A conference report on preimplantation diagnosis techniques using BABI (blastomere analysis before implantation) is in GEN (15 Oct 1993), 1, 14-15. It also examines the efforts to isolate fetal cells from maternal blood.

Papers on FISH are J.L. Simpson & S. Elias, "Isolating fetal cells from maternal blood. Advances in prenatal diagnosis through molecular technology", JAMA 270 (1993), 2357-61; Y.L. Zheng et al., "Prenatal diagnosis from maternal blood: simultaneous immunophenotyping and FISH of fetal nucleated erythrocytes isolated by negative magnetic sorting", JMG 30: 1051-6. They used immunotesting of cells to overcome the problem of maternal contamination of the fetal cells.

A classroom experiment of cystic fibrosis carrier testing is reported in AJHG 53 (1993), 1352-5. It was done in a first year medical class, may be it is not ready for schools?! A letter on pregnancy testing for CF is in Lancet 342 (1993), 1112-3. See the following section on ethics on the use of predictive testing of Huntington's disease in practice, and also a paper in JMG 30: 1036-8.

Mother's serum screening for prenatal diagnosis of Down's is discussed in BMJ 307 (1993), 1211-2; and of trisomy 18 is reported in BMJ 307 (1993), 1455-8. The need for counseling after Down's is made in BMJ 307 (1993), 1005. The dangers of chorionic villi sampling are reported in AJMG 47 (1994), 1096-8. A book review of interest is in AJHG 53 (1993), 1371-2.

Brain scanning is reviewed in Science 262 (1993), 673-4.

An editorial on the growing research in preimplantation diagnosis is in Nature Genetics 6 (1994), 1-2. Approaches that may reduce the cost of the techniques to enable broad introduction are discussed.In a paper in that issue the successful use of primer extension amplification to deletions of muscular dystrophy gene is reported; Kristjiansson, K. et al., "Preimplantation single cell analyses of dystrophin gene deletions using whole genome amplification", Nature Genetics 6 (1994), 19-23. The use of preimplantation diagnosis for embryo sexing is reported in K.H. Cui et al., "Sex determination of preimplantation embryos by human testis-determining-gene amplification", Lancet 343 (1994), 79-83. A book review of Y. Verlinsky & A.M. Kuliev, eds., Preimplantation Diagnosis of Genetic Diseases: A New Technique in Assisted Reproduction (New York: Wiley-Liss, 1993, 155pp., US$60) is in AJHG 54 (1994), 117-9.

The mathematics behind population screening is discussed in R.A. Parker & J.A. Phillips, "Population screening for carrier status: Effects of test limitations on precision of carrier prevalence rates", AJMG 49 (1994), 317-22. Some additional papers on genetic disease are above, the development of testing strategies is discussed in Biotechnology 12 (1994), 111, 156-64. The use of first trimester endoscopy to take blood from the fetus is reported in O&G 82 (1993), 876-9.

The use of a probe for the gene for familial adenomatous polyposis in public health screening is discussed in S.M. Powell et al., "Molecular diagnosis of familial adenomatous polyposis", NEJM 329 (1993), 1982-7, 2028-9. The study found they could identify 82% of patients with clinically defined disease, using a mixture of protein and expression assays. The use of p53 mutations for cancer risk assessment is reviewed in Science 262 (1993), 1980-1.

Mammography is discussed in a series of papers in AJPH 84 (1994), 8-13, 43-67; JAMA 271 (1994), 152-3; and the US has recently set standards: BMJ 308 (1994), 79.

Noninvasive technology for diagnosis is reviewed in GEN (15 March 1994), 8, 22. It discusses a number of companies assaying saliva and sweat sampling methods. A device that automatically extracts DNA from body fluids, cultivates and conducts DNA base sequence reactions has been reported by Hitachi; GEN (15 Feb 1994), 26. It will be especially used for hepatitis C screening, which is common in Asia, as well as genetics.

A device that can detect adult-onset diabetes by shining a light beam into the eye, in a very simple test, has been made in the US; The Boston Herald (31 March), 4. A review of glucose sensors is TIBTECH 11 (1993), 285-91. On the merits of simple physical breast cancer screening, Lancet 343 (1994), 342-3.

A letter on calculation of risk of Down's syndrome from human chorionic gonadotrophin is Lancet 343 (1994), 490, 549-50; from HCG and AFP, Clin. Genetics 45: 1-4; and on early diagnosis Lancet 343 (1994), 802. Prenatal testing for cystic fibrosis is reported in Lancet 343 (1994), 172-3. On noninvasive testing at 5 weeks, Lancet 343 (1994), 802-3; and maternal blood testing, Lancet 343 (1994), 413-4.

Diagnostic methods for adult polycystic disease are reported in JMG 31 (1994), 115-20. Huntington's disease screening is discussed in Lancet 343 (1994), 487-8; on funding it in the UK see BMJ 308 (1994), 535.

Preimplantation diagnosis is reported in S. Munne et al., "Sex determination of human embryos using the polymerase chain reaction and confirmation by fluoresence in situ hybridisation", F&S 61 (1994), 111-7; K.H. Cui et al., "Sex determination of preimplantation embryos by human testis-determining-gene amplification", Lancet 343 (1994), 79-82, 549. Also on the use of FISH, AJMG 50 (1994), 180-6. A review of PCR techniques is Nature 368 (1994), 269-71.

The use of biochemical serum screening can reduce the use of amniocentesis, and presents negligible risk to the mother and fetus. A review is J.E. Haddow et al., "Reducing the need for amniocentesis in women 35 years of age or older with serum markers for screening", NEJM 330 (1994), 1114-8, 1151-2; N.C. Rose et al., "maternal serum a-fetoprotein screening for chromosomal abnormalities: A prospective study in women aged 35 and older", AJOG 170 (1994), 1073-80. An editorial questions the reasons why 35 is often used as a cut off age, and calls for general screening.

An increased miscarriage rate for transcervical chorionic villi sampling (CVS) compared to the transabdominal method is reported in O&G 83 (1994), 657-60. The issue of limb defects from CVS is reported in H.V. Firth et al., "Analysis of limb reduction defects in babies exposed to chorionic villus sampling",Lancet 343 (1994), 1069-71. The benefits of ultrasound in prenatal diagnosis are debated in New Scientist (21 March 1994), 14-5. A paper on screening for Down's in the second trimester is Eur. J. Obs. & Gyn. & Rep. Biology 55: 15-6. A method for rapid detection of Down's syndrome from uncultured amniotic cells uses DNA testing for a small tandem repeat marker, Lancet 343 (1994), 1197-8. Also on methods for fetal analysis, JAMA 271 (1994), 1079-80; Lancet 343 (1994), 1038-9, 1347; Eur. J. Obs. & Gyn. & Rep. Biology 55: 13-4, 17.

A method for detection of the mutation for familial adenomatous polyposis coli is applied in W.A. Eckert et al., "Presymptomatic diagnosis in families with adenomatous polyposis using polymorphic dinucleotide CA repeat markers flanking the APC gene", JMG 31 (1994), 442-7. On Huntington's testing, Lancet 343 (1994), 1232.

The use of magnetic resonance imaging for diagnosis is useful, but patients with metal objects in their bodies should not be scanned, BMJ 308 (1994), 1181-2. A metal object in one part of the body can affect any other part.

The continued need for antenatal syphilis screening is called for despite the rarity in BMJ 308 (1994), 1253-4. A French national breast screening program has commenced, Lancet 343 (1994), 1282, and cervical smear screening uptake is discussed in BMJ 308 (1994), 1272-6.

If Hubert Humphrey had been screened with PCR 9 years before he knew he had bladder cancer, the screen would have detected it; Nature 369 (1994), 13; NEJM (5 May). This makes the call for use of PCR stronger. Increasingly long sequences of DNA are being applied by PCR, up to 22kb is reported, and 35kb has ben claimed by some, Nature 369 (1994), 684-5. Also on PCR, Biotechnology 12 (1994), 506-9. A review of the project led by Leroy Hood at the University of Washington to develop new tools of molecular biology is Science 264 (1994), 206-9. A review of biotech nanotools, for example sequencing DNA on computer chip matrix gels, is Biotechnology 12 (1994), 468-71.

Developments in cell sorting methods, and their use in human disease are discussed in GEN (1 June 1994), 12, 14. One of the new techniques is called Laser Scissors, which can manipulate single sorted cells, for example to make chromosome microdissection. A list of companies making cell sorters is given.

A genetic screening technique to detect live bacteria in meat (which could be a health hazard), by measuring mRNA not DNA, is reported in New Scientist (4 June 1994), 19.

A method for searching for genes using fluorescent labels and lasers and electromagnetic traps is reported in M. Eigen & R. Rigler, "Sorting single molecules: Application to diagnostics and evolutionary biotechnology", PNAS 91 (1994),, 5740-7; Science 265 (1994), 32.

The US National Institute of Standards and technology is supporting a US$145 million 5 year program aimed at improving tools for DNA diagnostics; Biotechnology 12 (1994), 664. A book review of DNA Probes, is Biotechnology 12 (1994), 624. A discussion of the use of the "information highway" is in JAMA 271 (1994), 1955-6. A comparison of computer diagnosis systems is E.S. Berner et al., "Performance of four computer-based diagnostic systems", NEJM 330 (1994), 1792-6. The general performance was not great, pp. 1824-5.

A book review of K.B. Mullis et al., eds, The Polymerase Chain Reaction, Cambridge, MA., 1994, 458pp., US$79, is in Science 265 (1994), 818-9. A discussion of automated genotyping and linkage analysis is in Nature 370 (1994), 158; Nature Genetics 7 (1994), 390-5.

A comparison of alternative screening methods is made in Z.H. Miedzybrodzka et al., "Evaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity, specificity, and costs", JMG 31 (1994), 545-50. The best method found was ARMS - allele refractory mutation detection system. Also on CF screening, BMJ 308 (1994), 1451-2, 1469-72. Letters on clinical Alzheimer's disease screening are Lancet 343 (1994), 1564-5; 344: 275. A review on self examination and screening for breast cancer is BMJ 309 (1994), 168-74.

A review of 183 cases is M.I. Evans et al., "Efficacy of second-trimester selective termination for fetal abnormalities: International collaborative experience among the world's largest centers", AJOB 171: 90-4. A letter challenging the idea that chorionic villi sampling results in limb reduction defects is Lancet 344 (1994), 66. This comes from WHO studies, Lancet 343 (1994), 1420, which find similar incidence to the general population.

Book reviews of Edwards, R.G., ed., Preconception and Preimplantation Diagnosis of Human Genetic Disease (Cambridge University of Press 1993, US$100), are NEJM 331 (1994), 684-5; Biotechnology 12 (1994), 925. The use of FISH to visualise tumor amplification is reported in Guan, X.-Y. et al. "Identification of cryptic sites of DNA sequence amplification in human breast cancer by chromosome microdissection", Nature Genetics 8 (1994), 155-161, 107-8. A paper on genetic counseling risk is Curnow, R.N. "Carrier risk calculations for recessive diseases when not all the mutant alleles are detectable", AJMG 52 (1995), 108-14.

A review of branched DNA signal amplification is Biotechnology 12 (1994), 926, 8. It is an alternative to PCR, and allows quantification of the amount of test sequence, because it amplifies the probe signal, not the test sequence. A study of herpes simplex viral DNA in pregnant women found a 8 times higher rate than by culture methods currently used, suggesting the rate of transfer is higher, JAMA 272 (1994), 792-6; see also AJOG 171 (1994), 784-90. The use of PCR to detect congenital toxoplasmosis is NEJM 331 (1994), 695-9. A new journal called Clinical Molecular Pathology is being made from the BMJ group, to report on the development of molecular diagnosis. It will be part of the J. Clinical Pathology. A journal review of Screening, JAMA 272 (1994), 1078-9. A study of users of a breast cancer screening service is SSM 39 (1994), 1015-25; and Guthrie screening coverage in London depends on mobility of parents around the time of birth, and is uneven, BMJ 309 (1994), 372-4. See also BMJ 309 (1994), 382-6, 679.

A technique for improved FISH analysis of trisomy 21 (Down's), allowing detection in uncultured amniocytes is JMG 31 (1994), 679-85; and on trisomy 13, AJMG 52 (1995), 92-6. Comparison between amniocentesis and chorionic villi sampling (CVS) is in Nicolaides, K. et al. "Comparison of chorionic villus sampling and amniocentesis for fetal karyotyping at 10-13 weeks' gestation", Lancet 344 (1994), 435-9, 825-6, and the risks of limb defects from CVS are debated in Lancet 344 (1994), 476. A cost analysis of ultrasound imaging to detect fetal malformations is in O&G 84 (1994), 622-6, and finds the cost per case US$30,000. The use of chorionic gonadotropin to predict pregnancy outcome after assisted reproductive technology is in F&S 62 (1994), 333-8.

Preimplantation diagnosis to prevent hemophilia has been reported in Melbourne, Australia, Monash Bioethics Review 13(4) (1994), 7; Melbourne Age (18 Aug 1994).

There is much commercial interest in gene probes and tests, GEN (Dec 1994), 10, 35; and the US Dept. of Commerce's National Institute of Standards and Technologies has awarded a grant of US$31.5 million over five years to several research groups and the company Affymetrix Inc. to develop desk-top DNA screening tools, Nature 372: 8. A method for detecting a specific DNA sequence by the addition of chemicals to a test-tube could be a significant breakthrough in diagnostics, and it has been reported in New Scientist (5 Nov 1994), 21. A quantitative test for mRNA is reviewed in GEN (15 Oct 1994), 23. A general discussion of at-home tests is FDA Consumer (Dec 1994), 25-8.

A review of screening of infectious disease agents is NEJM 331 (1994), 1212-4. Use of chorionic villi sampling (CVS) for fetal RhD typing is reported in Lancet 344 (1994), 959-60. The use of ultrasound measurement of placental thickness as a predictor of homozygous alpha-thalassemia-1 in at risk is reported in Lancet 344 (1994), 988-9.

The use of first-trimester maternal serum alpha-fetoprotein as a marker for Down's syndrome is reported in Prenatal Diagnosis 14 (1994), 963-71. Four marker serum screening is recommended in Wald, N.J. et al. "Four-marker serum screening for Down's syndrome", Prenatal Diagnosis 14 (1994), 707-16. It has only a 2% false positive rate and detects 72% of affected pregnancies when combined with an ultrasound. A study finding a change in maternal decision away from abortion at 20 weeks is Wang, X. et al. "Experience with 500 prenatal diagnoses of sickle cell diseases: The effect of gestational age on affected pregnancy outcome", Prenatal Diagnosis 14 (1994), 851-7.

On the safety of amniocentesis, Baird, P.A. et al. "Population- based study of long-term outcomes after amniocentesis", Lancet 344: 1134-6, 1032, 1303-4; and the safety of CVS, Wang, B.T. et al. "Chorionic villi sampling: Laboratory experience with 4,000 consecutive cases", AJMG 53 (1995), 307-16, 182-6. The Canadian study of Baird et al. suggests it is quite safe.

In the USA there has been confusion over the use of mammography, Lancet 344 (1994), 1353.

A paper reporting the use of preimplantation diagnosis and sperm injection is Liu, J. et al. "Birth after preimplantation diagnosis of the cystic fibrosis F508 mutation by polymerase chain reaction in human embryos resulting from intracytoplasmic sperm injection with epididymal sperm", JAMA 272 (1994), 1858-60. The issues in amniocentesis methodology and cell culture failure are made complex as it appears that unusual amniocytes are less likely to grow in culture, Lancet 345 (1995), 78-9, 96+.

A technique for detecting individual DNA variation, by parallel DNA analysis using 2-D DNA electrophoresis is assessed in Biotechnology 13 (1995), 137-9. The use of population breast cancer screening for different age groups is assessed in Lancet 345 (1995), 205-7. The use of non-invasive tests for the most common sexually transmitted disease, Chlamydia trachomatis, is reported in Lancet 345 (1995), 207.

The use of a genetic probe for L1 neural cell adhesion molecule for prenatal detection of hydrocephalus at 10 weeks gestation is reported in Lancet 345 (1995), 161-2. Detection of fetal RhD DNA samples in transcervical samples (which are semi-invasive techniques), is reported in Lancet 345 (1995), 318-9.

A general discussion of detecting mutations is Nature Genetics 9 (1995), 103-5. A review of DNA diagnostic tools being developed is Nature Medicine 1 (1995), 102-3.

Several reviews are in the last 1994 issue of Prenatal Diagnosis, including: Simpson, J.L. & Elias, S. "Isolating fetal cells in maternal circulation for prenatal diagnosis", Prenatal Diagnosis 14 (1994), 1229-42; Delhanty, J.D.A. "Preimplantation diagnosis", Prenatal Diagnosis 14 (1994), 1217-27. The use of FISH to detect 14 cases of triploidy is reported in Prenatal Diagnosis 15 (1995), 1-5.

A paper reporting increased incidence of limb defects after CVS is O&G 85 (1995), 84-8. A review of a Canadian genetic services program is Surh, L.C. et al. "Delivery of molecular genetic services within a health care system: Time analysis of the clinical workload", AJHG 56 (1995), 760-8; on prenatal diagnosis over all of Canada in 1990, Prenatal Diagnosis 14 (1994), 1253-65.

A comparison of the use of three screening programs in Scotland is Rudiman, R. et al. "Comparison of uptake of breast screening, cervical screening, and childhood immunisation", BMJ 310 (1995), 229, 204-5. The uptake in Scotland in general is 72%, 78% and 96% respectively, but is higher in North East Scotland probably due to more active general practitioners, and economic well-being. A method to detect breast cancer cells at low frequencies, 10-7 among peripheral blood mononuclear cells, PNAS 92 (1995), 537-41. The use of Magnetic Resonance Imaging (MRI) to diagnose breast cancer is reviewed in Scientific American (March 1995), 42; (April), 42. Methods to detect atherosclerosis are discussed in MJA 162 (1995), 172-3.

Also for cancer screening, Hogervorst, F.B.L. et al. "Rapid detection of BRCA1 mutations by the protein truncation test", Nature Genetics 10 (1995), 208-12. More than 75% of the BRCA1 mutations result in shorter or truncated proteins, so this method could be widely used. Also on breast cancer screening, BMJ 310 (1995), 1002-5, 1339; NEJM 332 (1995), 1138-43; Lancet 345 (1995), 853-5; and on other cancer screening, Lancet 345 (1995), 994; PNAS 92 (1995), 3963-7; JAMA 273 (1995), 1559-60; MJA 162 (1995), 342, 396; J. Medical Screening 1 (1994), 206-8; NS (6 May 1995), 20-1. Attitudes to screening in Minnesota women are in JAMA 273 (1995), 1099-105. Self-screening for melanoma is recommended in BMJ 310 (1995), 912-6. A study showing that breast conservation and breast removal have the same result after breast cancer is Jacobson, J.A. et al. "Ten-year results of a comparison of conservation with masectomy in the treatment of stage I and stage II breast cancer", NEJM 332 (1995), 907-11.

A study from Australia of women's decisions in seeking prenatal screening is Halliday, J. et al. "Comparison of women who do and do not have amniocentesis or chorionic villus sampling", Lancet 345 (1995), 704-9. Prenatal genetic screening decision trees are discussed in BMJ 310 (1995), 791-4. Also on prenatal tests, AJMG 56 (1995), 428.

A successful use of preimplantation diagnosis for Tay Sachs is in Gibbons, W.E. et al. "Preimplantation genetic diagnosis for Tay-Sachs disease: successful pregnancy after pre-embryo biopsy and gene amplification by polymerase chain reaction", F&S 63 (1995), 723-8. Marker chromosome 21 dissection and FISH is reported in AJMG 56 (1995), 151-4; and on serum screening for Down's, SAMJ 85 (1995), 72-3. Electric current flow use in genetic testing is discussed in SA (May 1995), 33-4. A review of cost assessment is J. Medical Screening 1 (1994), 39-44. Use of small antibody VH domains as probes is reported in Biotechnology 13 (1995), 475-9. General gene screening is discussed in Human Molecular Genetics 4 (1995), 153-6. Methods for gene amplification are discussed in GEN (15 May 1995), 1, 24-5. On molecular medicine, NEJM 332 (1995), 1218-20, 1499-502.

Cui, K-H &Haan, E.A., "Optimal polymerase chain reaction amplification for preimplantation diagnosis in cystic fibrosis (delta F508)", BMJ 311 (1995), 536-41. A fast reliable test for the commonest genetic mutation responsible for cystic fibrosis. They claim that it will provide accurate preimplantation diagnosis and could contribute to a substantial reduction in the number of children born with cystic fibrosis. In a commentary J A Raeburn pinpoints one of the dilemmas of their technique (p 540), which favours the implantation of normal homozygotes rather than heterozygotes. A rapid method for PCR from single cells in preimplantation diagnosis is in F&S 64 (1995), 255-60.

The clinical utility of genetic probes was discussed at a conference, Advances in Genetic Diagnoses for Infectious Diseases, reviewed in GEN (July 1995), 1, 38. The dilemmas of multiple mutations for neurofibromatosis and use for screening in a family are reported in JMG 32 (1995), 470-4; see also Human Molecular Genetics 4 (1995), 975-81. On cancer screening, MJA 162 (1995), 625-9; Lancet 345 (1995), 1629; 346 (1995), 236, 244-7, 436-9.

A letter on serum screening is in F&S 64 (1995), 214-5; and a finding that one in three women with a false positive screen for Down's syndrome may experience an adverse pregnancy outcome is O&G 86 (1995), 255-8. The lack of reporting of Down's syndrome cases that are diagnosed is criticised even in Britain, one of the most organised countries for such screening, Alberman, E. et al. "Down's syndrome births and pregnancy terminations in 1989 to 1993: preliminary findings", Br.J.O&G 102 (1995), 445-7.

A study of preimplantation diagnosis for genes associated with cancer is being planned at Hammersmith Hospital in London, one of the pioneers of preimplantation diagnosis, GenEthics News 8 (Sept/Oct 1995), 1-2.

An editorial titled "Risk assessment and religion", looks at the association of DDT and breast cancer some genetic disease with religious groups, Nature Genetics 11 (1995), 105-6. The study comes from a paper, Struewing, J.P. et al. "The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals", Nature Genetics 11 (1995), 198-200, 113-4; Lancet 346 (1995), 960. It also discusses an ethical issue in screening, the samples were delinked from names, so 8 individuals found to be carrying BRCA1 cannot be easily contacted - is their an ethical duty to contact the persons? A comment on origins of this Jewish population is Nature Genetics 11 (1995), 13-5. Also on BRCA1, Nature 377 (1995), 299-300.

A method for direct germ-line mutation screening in endocrine neoplasia is applied in JAMA 274 (1995), 1149-51. Mammographic screening cost effective-ness is reviewed in JAMA 274 (1995), 881-4. A survey of neonatal screening in the UK finds that 99% are screened for PKU and congenital hypothyroidism, but many less for other disorders; BMJ 311 (1995), 726. Down's syndrome screening is reviewed in NEJM 333 (1995), 532.

The use of DNA sequencing of the p53 gene to provide predictive information about the response of patients with breast cancer to therapy is reviewed in Bergh, J. et al. "Complete sequencing of the p53 gene provides prognostic information in breast cancer patients, particularly in relation to adjuvant systemic therapy and radiotherapy", Nature Medicine 1 (1995)1,0 29-32; GEN (1 Nov 1995), 3. Changes in the incidence and mortality of breast cancer are seen in England and Wales since screening, BMJ 311 (1995), 1391-5. Factors which determine newborn screening tests are studied in AJMG 59 (1995), 417-20.

Integrated Genetics has announced a new genetic test, Multiple Allele-Specific Diagnostic Assay (MASDA) for multiple screening of mutations. Hundreds of patient samples can be tested together for the presence of more than a hundred mutations, Gene Therapy Newsletter 17 (1995), 5. In the first phase DNA probes are used, and in the second phase the positive samples are removed and sequenced. A cost analysis of cystic fibrosis testing in the UK suggests costs between 40-90,000 pounds per affected pregnancy detected, Cuckle, H.S. et al. "Cost effectiveness of antenatal screening for cystic fibrosis", BMJ 311 (1995), 1460-4.

A study of risk perception is Atkinson, S.J. & Farias, M.F. "Perceptions of risk during pregnancy amongst urban women in Northeast Brazil", SSM 41 81995), 1577-86. Fetal behaviour as a test of fetal well-being is advocated in Br.J.O&G 102 (1995), 595-7, 597-600. The uptake of amniocentesis for Down's syndrome is estimated to be 40-50% among older women in the UK, and decision analysis for Down's is discussed in BMJ 311 (1995), 1371-3. A high selective miscarriage rate for Down's is found between CVS sampling at 10 weeks and by term 54% are lost, Br.J.O&G 102 (1995), 798-801. Serum screening marker levels are reviewed in Cuckle, H. "Improved parameters for risk estimation in Down's syndrome screening", Prenatal Diagnosis 15 (1995), 1057-65. A significant decrease in Down's syndrome births is reported in Israel due to screening, Shohat, M. et al. "Amniocentesis rate and the detection of Down syndrome and other chromosomal abnormalities in Israel", Prenatal Diagnosis 15 (1995), 967-70. Ethnic differences in the outcome of serum screening for Down's syndrome are reported in BMJ 312 (1996), 94-5. Determinants of the optimal time in gestation for prenatal fetal tests is discussed in AJOG 173 (1995), 1357-63.

A review of developments in obstetrics is BMJ 311 (1995), 1209-12. Tay Sachs disease prevention in Australia is discussed in MJA 163 (1995), 298-300. Diagnosis of Fragile X diagnosis in New Zealand is reported in NZMJ 108 (1995), 404-6. Preimplantation diagnosis of Marfan syndrome is reported in Nature Medicine 1 (1995), 798-803. Molecular diagnostic techniques for infectious diseases are also developing, TIBTECH 13 (1995), 413-5.

Non-invasive prenatal diagnosis and FISH is progressing as isolation of fetal cells from maternal blood becomes more efficient, Lancet 346 (1995), 1153; Prenatal Diagnosis 15 (1995), 641-6, 889-96, 897-905, 907-12, 913-9, 921-31. A call for routine hepatitis B testing at 14 weeks of pregnancy has been made in BMJ 311 (1995), 1195-7. An increase in cytogenetic abnormalities in first trimester CVS is reported for IVF pregnancies in Prenatal Diagnosis 15 (1995), 975-80.

The Canadian Task Force on Periodic Health Examination reports on prenatal screening for, and diagnosis of Down syndrome in CMAJ 154 (1996), 465; and a survey of the extent of UK screening is in Lancet 347 (1996), 330. There are some ethnic variations, see Gilbert L et al. "Ethnic differences in the outcome of serum screening for Down's syndrome", BMJ 312 (1996), 94-5. Elevated hCG is also associated with poor pregnancy outcome, O&G 87 (1996), 217-22. A study showing maternal serum alpha-fetoprotein is a better indicator of adverse fetal outcome than amniotic fluid AFP is O&G 87 (1996), 2136.

Genetic testing for common cancers is advancing, but there are still some problems, Nature Medicine 2 (1996), 156-8; Lancet 346 (1995), 1645-6. The dilemmas of testing from BRCA1 are discussed in O&G 87 (1996), 306-9. Successful results are observed in Brock DJH "Prenatal screening for cystic fibrosis: 5 years' experience reviewed", Lancet 347 (1996), 148-50.

Biotechnology research into making therapeutics for diagnostics is reviewed in GEN (15 Jan 1996), 3. In one year the investment seems to have tripled, based on the final quarter of 1995 and 1994. A method to detect long trinucleotide repeats in the genome by FISH is in Nature Genetics 12 (1996), 183-5. OncorMed, Inc. is beginning a clinical validation study with The Johns Hopkins University School of Medicine of a new test to improve the way bladder cancer is diagnosed and treated. The new test uses urine samples to detect bladder cancer, and is so far 95% accurate in patients with suspicious bladder lesions, and is noninvasive, Science 271 (1996), 662. Some criticism has been made about the financial relationships of this company with the university on the HUM-MOLGEN Internet discussion group. It does raise general ethical questions about who should be chosen to conduct clinical trials.

The use of a single fetal cell from maternal blood in 6 out of 10 patients is reported in Sekizawa, A. et al. "Prenatal diagnosis of the fetal RhD blood type using a single fetal nucleated erythrocyte from maternal blood", O&G 87 (1996), 501-5. The use of maternal blood samples to predict sex in 12/13 cases is reported in Brit. J. O&G 103 (1996), 219-22. Amniotic fluid can also be used with PCR, O&G 87 (1996), 419-22. Cost effectiveness of antenatal screening for cystic fibrosis is discussed in BMJ 312 (1996), 908-10.

A paper suggesting reasons for anatomical and age specificity of digital (hand) abnormalities in CVS is AJMG 62 (1996), 173-9; also Lancet 347 (1996), 484-5. However a study of 138996 pregnancies tested with CVS involving 77 infants with limb defects found no extra risk of limb defects from CVS, Froster UG. & Jackson, L. "Limb defects and chorionic villus sampling: results from an international registry, 1992-4", Lancet 347 (1996), 489-94. A follow-up of children whose mothers had amniocentesis finds no affect on child development, Brit. J. O&G 103 (1996), 214-8. Reviews include: early amniocentesis, Prenatal Diagnosis 15 (1995), 1259-73; ultrasound, Prenatal Diagnosis 15 (1995), 1241-57; and preimplantation diagnosis, Prenatal Diagnosis 16 (1996), 137-42.

Serum screening for Down's syndrome is discussed in Lancet 347 (1996), 906-7; BMJ 312 (1996), 974; and it is found that the range of risk cut off for screening that UK groups use is between 1 in 100 and 1 in 350 risk. Earlier screening markers are suggested in Krantz, DA. et al. "First-trimester Down syndrome screening: Free b-human chorionic gonadotropin and pregnancy-associated plasma protein A", AJOG 174 (1996), 612-6; and nicked free b-subunit of chorionic gonadotropin, AJOG 174 (1996), 609-11. False negative rates are discussed in Lancet 347 (1996), 965-6; also Prenatal Diagnosis 15 (1995), 1227-40, 16 (1996), 35-8. A study has shown dried blood samples can also be used, Macris, JN. et al. "Prenatal maternal dried blood screening with alpha-fetoprotein and free beta-human chorionic gonadotropin for open neural tube defect and Down syndrome", AJOG 174 (1996), 566-72.

A review of probes that light up when they bind is Tyagi, S. & Kramer, FR. "Molecular beacons: Probes that fluoresce upon hybridization", Nature Biotechnology 14 (1996), 303-8; NS (16 March 1996), 24. A method for detection of trinucleotide repeats using PCR and DNA hybridization is in AJMG 67 (1996), 85-91. On the development of multiplex FISH techniques, Speicher, MR. et al. "Karyotyping human chromosomes by combinatorial multi- FISH", Nature Genetics 12 (1996), 368-75, 341-44. A letter on screening for genetic mutations is Nature 380 (1996), 207; and on biosensor development, Biotechnology 13 (1995), 1056-8. Use of proton magnetic resonance spectroscopy to analyze brain tumours has bee refined in Nature Medicine 2 (1996), 323-5.

A report from 5161 cases of prenatal cystic fibrosis screening is AJHG 58 (1996), 823-5. Prenatal diagnosis of hemoglobin disorders is reviewed in Prenatal Diagnosis 15 (1995), 1275-95. Presymptomatic diagnosis of the APC gene using semiautomatic DNA analysis is reported in JMG 33 (1996), 244-7; and a review of Huntington's disease gene analysis in New Zealand, NZMJ 109 (1996), 27-30.

The introduction of FISH techniques into regular lab work is predicted in GEN (15 May 1996), 1, 26. A fluorescent marker of gene transfer has been found, Nature Biotechnology 14 (1996), 576. Reviews on PCR include, Nature 381 (1996), 445-6, 567-8; TIBTECH 14 (1996), 112-4; NS (11 May 1996), 42-3. Letters on limb defects and CVS are in Lancet 347 (1996), 1406-8. In general, BioEssays 18 (1996), 169.

Dimeric inhibin A is recommended as a further serum screening marker, NEJM 334 (1996), 1231-6. Also on methodology of Down's syndrome screening, AJMG 63 (1996), 376-85. A summary of the results of prenatal screening in Maine is NEJM 334 (1996), 1409-10; which suggests the reduction in Down's syndrome births of total has been 46% between 1990-1993. Obstetricians and family physicians have significantly different uses of serum screening, AJO&G. 174 (1996), 1361-5. Computer software is developing to analyze serum screening, Lancet 347 (1996), 1553-4. A newer method of detection is first trimester nuchal translucency, Lancet 347 (1996), 1625-6; and on ultrasound improvements, SA (June 1996), 32-3. Male fetal Cells have been detected in women 27 years after birth, PNAS 93 (1996), 705-8.

Increased role of genetics in primary care is called for in JMG 33 (1996), 346-8; Nature Medicine 2 (1996), 710-1; MJA 164 (1996), 455-6. The use of microsatellite alterations to predict cancer risk is reported in Nature Medicine 2 (1996), 682-5. Presymptomatic diagnosis of familial-resistant nephrotic syndrome has been performed, Lancet 347 (1996), 1650-1; and hereditary glomus tumours, JMG 33 (1996), 379-83; and prenatal diagnosis of batten's disease, Lancet 347 (1996), 1014-5.

Quality assurance in metaphase FISH is assessed in AJMG 64 (1996), 539-45. PCR can be used to determine fetal RhD status on uncultured amniocytes, O&G 88 (1996), 207-10. Preimplantation diagnosis of beta-thalassemia is reported in Lancet 347 (1996), 1696. On genetic counseling for isolated carriers of muscular dystrophy see AJMG 64 (1996), 573-80. A new blood test may replace tissue biopsies for cancer, NS (31 August 1996), 14.

A quadruple test for Down's syndrome is being developed, BMJ 313 (1996), 380.

Criticism of female athletes in the Olympics being sex tested continues 4 years after the last Olympics, because they were still being used, JAMA 276 (1996), 177-8. On testing for drug abuse in sport, Lancet 348 (1996), 41-3.

Genetic tests for familial hypercholesterolemia have been described, Baron H. et al. "Oligonucleotide ligation assay (OLA) for the diagnosis of familial hypercholesterolemia", Nature Biotechnology 14 (1996), 1279-82, 1227. The system described by Baron et al. represents one of a number of technologies that will benefit some patients at risk of premature atherosclerosis and CAD.

An alternative to surgically obtaining samples for DNA analysis in mice has been reported, Irwin, MH. et al. "Identification of transgenic mice by PCR analysis of saliva", Nature Biotechnology 14 (1996), 1146-8. Techniques to allow detection of cancer from mutated DNA in plasma is Lancet 348 (1996), 628; Nature Medicine 2 (1996), 1033-5, 1035-7. On PCR see Cell 86 (1996), 707; Nature 383 (1996), 683-4.

New methods for probing all chromosomes with different colours in FISH are reviewed in Nature Genetics 14 (1996), 10-1, 86-9, 116. An new enzyme-linked oligonucleotide assay is reported in Nature Biotechnology 14 (1996), 1021-7. A review of a database for broad use also in environmental biology is Wheeler, E. et al. "The oligonucleotide probe database", AEM 62 (1996), 3557-9.

Preimplantation diagnosis of beta-thalassemia using non-radiative single-strand conformation polymorphism analysis is reported in Lancet 348 (1996), 620-1. Prenatal diagnosis of Fragile X is discussed in Lancet 348 (1996), 967-8; and of adrenoleukodystrophy, NZMJ 109 (1996), 312-5. Early amniocentesis is associated with higher rate of miscarriage, JAMA 276 (1996), 591. Fetal echocardiography is recommended as a routine addition to ultrasound to test for heart disease, Lancet 348 (1996), 836, 854-7. On the antenatal screening of thyroid antibodies as a predictor of post-partum mood disorder, Lancet 348 (1996), 906-7. A report on a UK company developing tests for Down's syndrome for analysis of fetal cells in the maternal blood, NS (5 Oct. 1996), 28.

DNA microchips for screening are reviewed in Nature Genetics 14 (1996), 367-70, 441-7, 457-60. The use of expression monitoring by hybridization to high-density oligonucleotide arrays, is reviewed in Nature Biotechnology 14 (1996), 1675-80. A fiber-optic DNA biosensor microarray for the simultaneous analysis of multiple DNA sequences is described in Nature Biotechnology 14 (1996), 1681-4. Open sandwich ELISA is described in Nature Biotechnology 14 (1996), 1714+. Book reviews of interest include Science 274 (1996), 934-5.

Isolation of fetal blood cells in maternal blood has been used for prenatal diagnosis tests for sickle cell anemia and thalassemia, Cheung, MC. et al. "Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood", Nature Genetics 14 (1996), 264-8; 239-40; Lancet 348 (1996), 1230. A review is Heiskanen, M. et al. "Visual mapping by high resolution FISH", TIG 12 (1996), 379-82. Quality assurance for FISH is discussed in AJMG 65 (1996), 190-6. Preimplantation embryo chromosome analysis is reported in F&S 66 (1996), 781-6. See also Nature Genetics 14 (1996), 312-5, 487. A paper describing a marker for use after 10 weeks in pregnancy is Hewitt, BG et al. "Correlation between nuchal thickness and abnormal karyotype in first trimester fetuses", MJA 165 (1996), 365-8.

In general on genetics in cancer care (also see above), NEJM 335 (1996), 1455-6; JAMA 276 (1996), 1470-1; and screening for vaginal cancer, NEJM 335 (1996), 1599-1600; and pap smears MJA 164 (1996), 429-31. On screening for gastric cancer, Lancet 348 (1996), 1231. A general discussion of primary care is Lancet 348 (1996), 1431-2. A blood test for Prader-Willi syndrome is described in Lancet 348 (1996), 1068-9.

The rapid identification of intact microorganisms using mass spectrometry is described in Nature Biotechnology 14 (1996), 1584-6.

The use of transmission electron microscope analysis of longitudinal chromosome sections for Fragile X is reported in AJMG 68 (1997), 445-9. On preconception diagnosis, Malter, H. et al. "Characterization of the full fragile X syndrome mutation in fetal gametes", NatGen 15 (1997), 165-70. Fetal blood cells through maternal blood tests is developing more as a test, SA (Jan 1997), 38. On fetal RhD typing, O&G 88 (1996), 1061-7.

On models of antenatal care and economics, SSM 44 (1997), 371-80. On PET scans and screening risks in general, NS (18 Jan, 1997), 38-9. Screening for neuroblastoma may not reduce mortality for the disease, Lancet 348 (1996), 1672, 1682-7.

The use of DNA tests and FISH on chips is reviewed in Nature 385 (1997), 202-3. In general on molecular tests, BMJ 314 (1997), 5-6, 126-9, 203-6; The FDA gave Vysis Inc. permission to market a DNA FISH probe called CEP8 Spectrum Orange, to identify chromosome 8 in myeloid disorders, GEN (1 Jan 1997), 24. On Down syndrome screening with nuchal translucency, Lancet 348 (1996), 1740.

A new kit for screening genes that are turned off or on is called a PCR-Select cDNA Subtraction test, which compares two cells, GEN (15 Feb 1997), 1, 12. A review of biochemical genetics in genetic disease testing is AJMG 69 (1997), 1-6. A test using reverse transcriptase (RT) PCR is being introduced to test for thyroid cancer in patients, GEN (15 March 1997), 1, 28, 32; also, TIBTECH 14 (1996), 478-83. On mutation detection, Nature Biotechnology 15 (1997), 318; TIG 13 (1997), 43-6; Abramowitz, S. "Towards inexpensive DNA diagnostics", TIBTECH 14 (1996), 397-401; O'Donnell-Maloney, MJ, et al. "The development of microfabricated arrays for DNA sequencing and analysis", TIBTECH 14 (1996), 401-7; also TIBTECH 15 (1997), 42-4.

A review is Stranc, LC. et al. "Chorionic villus sampling and amniocentesis for prenatal diagnosis", Lancet 349 (1997), 711-4. On transabdnominal CVS, Prenatal Diagnosis 17 (1997), 125-33. A new serum marker, Schwangerschaftsprotein 1 has been reported, Prenatal Diagnosis 17 (1997), 101-8. On the risks of trisomy 21 and screening, BMJ 314 (1997), 720-1.

Use of PCR to screen CF carriers in a pregnant population has been conducted in UCLA, AJHG 60 (1997), 935-47; also AJOG 176 (1997), 268-70. Also on CF, Science 275 (1997), 1324-6.

A trial of breast self-examination in the UK has not shown it to be very useful, Lancet 349 (1997), 779; raising questions for breast cancer screening, BMJ 314 (1997), 764-5, 864-7; as in the USA, Nature Medicine 3 (1997), 251, 255; JAMA 277 (1997), 519-20.

A new kit for screening genes that are turned off or on is called a PCR-Select cDNA Subtraction test, which compares two cells, GEN (15 Feb 1997), 1, 12. A review of biochemical genetics in genetic disease testing is AJMG 69 (1997), 1-6. A test using reverse transcriptase (RT) PCR is being introduced to test for thyroid cancer in patients, GEN (15 March 1997), 1, 28, 32; also, TIBTECH 14 (1996), 478-83. On mutation detection, Nature Biotechnology 15 (1997), 318; TIG 13 (1997), 43-6; Abramowitz, S. "Towards inexpensive DNA diagnostics", TIBTECH 14 (1996), 397-401; O'Donnell-Maloney, MJ, et al. "The development of microfabricated arrays for DNA sequencing and analysis", TIBTECH 14 (1996), 401-7; also TIBTECH 15 (1997), 42-4.

A review is Stranc, LC. et al. "Chorionic villus sampling and amniocentesis for prenatal diagnosis", Lancet 349 (1997), 711-4. On transabdnominal CVS, Prenatal Diagnosis 17 (1997), 125-33. A new serum marker, Schwangerschaftsprotein 1 has been reported, Prenatal Diagnosis 17 (1997), 101-8. On the risks of trisomy 21 and screening, BMJ 314 (1997), 720-1.

Use of PCR to screen CF carriers in a pregnant population has been conducted in UCLA, AJHG 60 (1997), 935-47; also AJOG 176 (1997), 268-70. Also on CF, Science 275 (1997), 1324-6.

A trial of breast self-examination in the UK has not shown it to be very useful, Lancet 349 (1997), 779; raising questions for breast cancer screening, BMJ 314 (1997), 764-5, 864-7; as in the USA, Nature Medicine 3 (1997), 251, 255; JAMA 277 (1997), 519-20.

A recommendation to use 2 year screening for prostrate cancer in older men instead of more frequently is made in JAMA 277 (1997), 1456-60; and on mammograms 1-2 years, JAMA 277 (1997), 1181. On the expanding use of PCR, GEN (1 May 1997), 9, 31. A study found differences in Japanese and Western pathologists criteria for gastric carcinoma, Lancet 349 (1997), 1725-9, 1711. Microsatellite analysis of urine can screen for bladder cancer, NatMed 3 (1997), 621-4.

A report on the Dutch system of multi-center registration for genetic disorders and malformation syndromes is AJMG 70 (1997), 444-7. A review of using FISH for sex chromosome markers is AJMG 71 (1997), 1-7.

More education is called for in Hong Kong to increase uptake of thalassemia testing, NEJM 336 (1997), 1298-301. Preimplantation diagnosis is expected to increase in the Netherlands, BMJ 314 (1997), 1435; and in general on the tests, J. Assisted Reproduction & Genetics 14 (1997), 72-5. Papers on genetic information include, De Witte, JI. & Welie, JVM. "The status of genetic material and genetic information in the Netherlands", SSM 45 (1997), 45-9; and De Witte, JI. & Have HT. "Ownership of genetic material and information", SSM 45 (1997),51-60.

In general on screening for genetic diseases, NEJM 336 (1997), 1314-6. Risks of CVS and amniocentesis are discussed in Lancet 349 (1997), 1395-7; and on ultrasound age estimates are useful for Down syndrome tests, AJOG 176 (1997), 1056-61. A report of the 2.5 million women who received serum screening for Down syndrome in the USA is Palomaki, GE. et al. "Maternal serum screening for Down syndrome in the United States: A 1995 survey", AJOG 176 (1997), 1046-51. Most cases of triploidy can be recognized at 10-14 weeks gestation, AJOG 176 (1997), 550-4. A UK woman has been given 300,000 pounds in a court by the Dept. of Defense after being given wrong information and stopped from having an amniocentesis, though she had a Down's syndrome child, BMJ 314 (1997), 1368.

A diagnostic test for trisomy 21 using FISH techniques has been approved for sale in France (and thus Europe), called TriGen, from Vysis Inc., GEN 17(August 1997), 28. Also on FISH, NatGen 16 (1997), 217-8; AJHG 61 (1997), 16-7. In general on genetic screening methods, TIBTECH 15 (1997), 42-4. The question whether routine prenatal screening for congenital heart disease should be done is addressed in a study which found little impact, AJPH 87 (1997), 962-7.

Discussion of alternative markers for chromosome aneuploidies like Down syndrome fetal screening include O&G 89 (1997), 355-8, 941-4; Prenatal Diagnosis 17 (1997), 101-8, 301-4, 333-41. See also a case of trisomy 21 without Down syndrome phenotype, JMG 34 (1997), 597-600.

A UK NHS report has recommended screening for Fragile X is cost effective, J. Medical Screening 4 (1997), 60-94; BMJ 315 (1997), 208. The costs of screening people with family history of colorectal cancer is assessed in BMJ 314 (1997), 1779-80. On a comprehensive method for assessing genetic risks of chronic conditions in adulthood, AJMG 71 (1997), 315-24. A book review on medical imaging is Science 276 (1997), 1996-7.

The method of keeping records is reported in Halliday, J. et al. "Use of record linkage between a statewide genetics service and a birth defects/congenital malformations register to determine use of genetic counseling services", AJMG 72 (1997), 3-10. On the care needed to read papers reporting screening results, BMJ 315 (1997), 318, 540-3.

PCR can be used to define infectiousness among people infected with hepatitis C, BMJ 315 (1997), 333-7. On false positives with PCR, AJMG 72 (1997), 241. Circulating cancer cells can be diagnosis by reverse transcription-PCR, JAMA 278 (1997), 476-7.

Cost savings are calculated for persons at risk of cystic fibrosis, Duchenne muscular dystrophy, myotonic dystrophy, fragile X syndrome in van der Riet, AAPM et al. "Cost effectiveness of DNA diagnosis for four monogenic diseases", JMG 34 81997), 741-5. The roles of imagers in the developing world is discussed in Lancet 350 (1997), 426-9. On fetal DNA in mother's blood serum, Lo, YMD. et al. "Presence of fetal DNA in maternal plasma and serum", Lancet 350 (1997), 485-7. Early amniocentesis has similar risk of pregnancy risk to CVS, Sundberg, K. et al. "Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus sampling", Lancet 350 (1997), 697-703. A study suggesting fetal nuchal translucency is not so developed as a reliable predictor of Down's syndrome is Lancet 350 (1997), 754.

Methods to predict Down syndrome using differential increases in Alpha-fetoprotein (AFP), hcG and uE3 in twin pregnancies are reported in AJMG 73 (1997), 109-12. AFP levels should be adjusted in insulin-dependent diabetes mellitus, AJMG 75 (1998), 176-8; also on triple test, Lancet 350 (1997), 1295; O&G 90 (1997), 370-4, 769-74. There is a need to introduce ultrasound more in the developing world if practitioners are trained well, Lancet 350 (1997), 1330; BMJ 315 (1997), 760-1. There may be too much scanning in industrialized countries, Brit. J. O&G 104 (1997), 1223-4. However fetal nuchal transparency may be linked to Down syndrome detection, Lancet 350 (1997), 1629-32; NEJM 337 (1997), 1654-8, 1689-90. Fetal cells in maternal blood can be monitored, and in Down syndrome there was a sixfold increase in the number of fetal cells circulating, Bianchi, DW. et al. "PCR quantification of fetal cells in maternal blood in normal and aneuploid pregnancies", AJHG 61 (1997), 822-9, 806-9. Fetal echocardiography can be used to predict chromosomal abnormality, Lancet 350 (1997), 930. A review of genetic diagnosis before implantation is BMJ 315 (1997), 828-9. On CVS versus amniocentesis, Lancet 350 (1997), 1253-4. A related book review is in BMJ 315 (1997), 1169.

Commercial release of genechip technology and the CYP450 genechip has been made for looking at cytochrome P450, GEN 17 (Dec 1997), 1, 14, 34. Myriad genetics plans to launch a gene test for high blood pressure for those sensitive to sodium intake, in the AGT promoter of angiotensinsinogen, GEN 17 (Dec 1997), 27. Gamera Bioscience corporation has produced a disc-based analysis system for multiple genetic tests, GEN 17 (15 Oct 1997), 27, 42. A review of DNA chips is Ramsay, G. "DNA chips: State-of-the art", NatBio 16 (1998), 40-44; 27-32; also 25. Numerous companies and academic groups are developing novel approaches to DNA sample preparation, probe synthesis, target labeling, and readout that make array design more flexible. See also Saizieu, A. de et al. "Bacterial transcript imaging by hybridization of total RNA to oligonucleotide arrays", NatBio 16 (1998), 45-8. On multicolour FISH, TIG 13 (1997), 475-9.

There are a variety of new methods for detection; Tyagi, S. et al. "Multicolor molecular beacons for allele discrimination", NatBio 16 (1998), 49-53. Molecular beacons are hairpin-shaped oligonucleotide probes that report the presence of specific nucleic acids in homogenous solutions. When they bind to their targets they change conformation and become fluorescence. Drmanac, S. et al. "Accurate sequencing by hybridization for DNA diagnostics and individual genomics", NatBio 16 (1998), 54-8; Griffin, TJ. et al. "Genetic analysis by peptide nucleic acid affinity MALDI-TOF mass spectrometry", NatBio 15 (1997), 1368-72; Little, DP. et al. "Mass spectrometry from miniaturized arrays for full comparative analysis", NatMed 3 (1997), 1413-6.

Reports on screening programs in Malta and Italy for thalassemia are in EuroScreen 8 (Autumn 1997), 4-9; and an audit of hemoglobin disorder screening in London over 20 years is BMJ 315 (1997), 779-84, 784-5; and in USA, JAMA 278 (1997), 1273-7. A summary of Fragile X programs is BMJ 315 (1997), 1174-5, 1223-6. On genetic screening for endocrine surgical disorders and breast cancer, Hospital Today (Delhi), II (No. 13, Dec 1997), 11--6; and colorectal cancer, JAMA 278 (1997), 1278-81.

Breast self-examination techniques reduce risk of death from breast cancer, CMAJ 157 (1997), 1205-12, also 1225-; NEJM 337 (1997), 1850. On breast screening in populations, BMJ 315 (1997), 1356-9; JAMA 278 (1997), 2105-8; and cervical screening, Lancet 350 (1997), 1010. There are nutritional benefits of screening for neonatal CF, NEJM 337 (1997), 963-9; and 15 more diseases are being added in the UK, BMJ 315 (1997), 901. On gestational diabetes screening, NEJM 337 (1997), 1591-6, 1625-6.

The FDA approved the Oncor Inform 153 HER-2/neu breast cancer test, the first time it has approved a predictive gene test for cancer, GEN 18 (15 Jan 1998), 28; BMJ 316 (1998), 168. On mammography, MJA 167 (1997), 516-7, 521-4; and cervical screening, MJA 167 (1997), 460-1; Lancet 351 (1998), 269. The breast cancer mortality rates in Australia are analyzed in MJA 168 (1998), 11-4. Debate on prostrate screening is BMJ 316 (1998), 329, 484; MJA 167 (1997), 240-1. On Apolipoprotein screening in children in Australia, MJA 168 (1998), 61-4. Neonatal screening for cystic fibrosis does not yet show benefit, BMJ 316 (1998), 404-5; however screening for deafness does, BMJ 316 (1998), 1-2.

Early amniocentesis before 13 weeks has some increased risk of miscarriage, Lancet 351 (1998), 226-7, 242-7. More than half ultrasound of the examinations in a Canadian study were classified as inappropriate, Thompson, E et al. "Are rural general practitioner - obstetricians performing too many prenatal ultrasound examinations? Evidence from western Labrador", CMAJ 158 (1998), 307-13. A study of nuchal thickness in trisomy 21 fetuses is O&G 91 (1998), 78-81. On prenatal care, O&G 91 (1998), 169-73. On organ screening and triple test for trisomy 21, Amer. J. O&G. 178 (1998), 40-4.

Sequence comparisons using high density oligonucleotide arrays are reported in NatGen 18 (1998), 155-8. On the reliability of DNA-based sex tests, NatGen 18 (1998), 103.

The impact of fetal sex on the risk calculations from biochemical marker tests is discussed in AJMG 76 (1998), 369-71. Trisomy 18 screening is discussed in O&G 91 (1998), 636-7. There are differences in collagen type VI gene expression in the skin of trisomy 21 fetuses, O&G 91 (1998), 319-23. Prenatal diagnosis of fetal Phc genotype can be performed from peripheral maternal blood, O&G 91 (1998), 506-10.

Reviews of the new genetics in clinical practice are BMJ 316 (1998), 570, 618-20, 767-70. Fast genetic diagnosis can be performed by weighing DNA, Science 279 (1998), 2044-5. On spectral genotyping of human alleles, Science 279 (1998), 1228-9. A review of oligomer-chip technology is TIBTECH 15 (1997), 465-69; and of capillary electrophoresis for point-mutation screening, TIBTECH 15 (1997), 448-58. Rapid methods for genetic characterization are reviewed in NatGen 18 (1998), 195-7. On imaging of pulmonary embolism, BMJ 316 (1998), 490-1.

A comparison in the state of Missouri, USA, found that the number of visits to genetics clinics doubled between 1985 and 1995, AJMG 78 (1998), 217-25. On medical genetics services in the UK, JMG 35 (1998), 441-2. A new journal is Genetic Medicine from Wiley and Sons, UK. A review of mutation databases on the web is JMG 35 81998), 529-33; TIG 14 (1998), 205-6.

On the growth in use of FISH in prenatal diagnosis, GenEng News 18 (15 June 1998), 20, 37. Fetal DNA can be readily detected in maternal serum, Lo YMD. et al. "Quantitative analysis of fetal DNA in maternal plasma and serum: Implications for noninvasive prenatal diagnosis", AJHG 62 (1998), 768-75, 763-4. See also NEJM 337 (1998), 1186-91. The development of PCR tests for real-world commercial applications is reviewed in GenEng News 18 (15 May 1998), 1, 12, 30. Advanced technology for cell DNA analysis is reported in Cheng, E. et al. "Preparation and hybridization analysis of DNA/RNA from E. coli on microfabricated bioelectronic chips", NatBio 16 (1998), 541-6; 509, 513. Escherichia coli were separated from a mixture containing human blood cells by means of dielectrophoresis and then subjected to electronic lysis followed by proteolytic digestion on a single microfabricated bioelectronic chip. An alternating current electric field was used to direct the bacteria to 25 microlocations above individually addressable platinum microelectrodes. A review on the use of microarrays for screening and research is TIBTECH 16 (1998), 301-6. On a sensitive method to analyze DNA damage, Science 280 (1998), 1066-9.

Discussion of tamoxifen, and other therapies for breast cancer prevention is in CMAJ 158 (1998), 1613-25. On BRCA1 testing, JAMA 279 (1998), 955-7; Lancet 351 (1998), 1753-4; and p53, NatMed 4 (1998), 632; and nonpolyposis colorectal cancer, NEJM 337 (1998), 1481-7, 1537-8. There is a high rate of false positive results with normal breast cancer tests, BMJ 316 (1998), 1263; see also NEJM 337 (1998), 1145-6; Lancet 351 (1998), 1129-31; Science News 153 (1998), 244. On carrier testing for CF, MJA 168 (1998), 375-6; screening for alpha thalassemia carriers, NEJM 337 (1998), 1298-301; and screening for genetic disease, NEJM 337 (1998), 1314-6; BMJ 316 (1998), 1360-3.

A study suggesting that second trimester amniocentesis is not associated with extra fetal loss is TongSong, T. et al. "Amniocentesis-related fetal loss: A cohort study", O&G 92 (1998), 64-7. Maternal age rate risks estimates for Down syndrome in USA are in JMG 35 81998), 482-90; AJO&G 178 (1998), 871-2. Screening for Down syndrome in first trimester is possible with pregnancy-associated protein A and hCG, Haddow, JE. et al. "Screening of maternal serum for fetal Down syndrome in the first trimester", NEJM 337 (1998), 955-61. A call for rational Down syndrome screening policy is AJPH 88 (1998), 551-7, 558-9. Nuchal translucency can be screened also, usually without consent, BMJ 316 (1998), 1027. A trial suggesting earlier screening for Down syndrome is BMJ 316 (1998), 1111.

A report on non-invasive sexing of preimplantation embryos using expression of a green fluorescent marker protein from jellyfish is NatGen 19 (1998), 220-2. Three births after polar body analysis as preimplantation diagnosis for cystic fibrosis are reported in AJOG 178 (1998), 1298-306. On neonatal testing for CF, BMJ 317 (1998), 411-2. A method to screen phenotype to find lethal mutations in mice embryos is PNAS 95 (1998), 7485-90.

Methods for direct allelic variation scanning at a genome level using DNA chips are tested on yeast in Science 281 (1998), 1122, 1194-7. On DNA diagnostics and biochips, NatBio 16 (1998), 725. There are questions over the reliability of PCR, NS (15 August 1998), 18-9. In general on mutation testing, NatGen 19 (1998), 225-32. On use of FISH and flow cytometry for determining the replication history and potential replication capacity of different types of cells from the same piece of tissue, NatBio 16 (1998), 723-4.

A PCR based test for Down syndrome is described in Verma, L. et al. "Rapid and simple prenatal DNA diagnosis of Down's syndrome", Lancet 352 (1998), 9-12. A nuchal translucency test can be used to increase detection of Down syndrome, Snijders, RJM et al. "UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation", Lancet 352 (1998), 336-7, 343-6; BMJ 317 (1998), 368. Maternal age-specific risk of Down syndrome in Asian populations is summarized in Prenatal Diagnosis 18 (1998), 675-82. Also on Down testing, Prenatal Diagnosis 18 (1998), 585-9; and aneuploidy testing on a population level, Prenatal Diagnosis 18 (1998), 683-92. A review of thalassemia testing in Australia is Prenatal Diagnosis 18 (1998), 591-8; MJA 169 (1998), 215-9. A review of first trimester pregnancy testing is Prenatal Diagnosis 18 (1998), 537-43.

Methods to predict cancer risk from environmental exposures are reviewed in EST 33 (1998), 312-6A. On genetic testing for cancer, JAMA 280 (1998), 1612-3; BMJ 317 (1998), 88-9, 360-1, 376-9, 368. The Australian breast cancer screening system is described in MJA 169 (1998), 179-80. Tissue microarrays for screening are described in NatMed 4 (1998), 767-8, 844-7. Calculation of the numbers to use for screening is reviewed in BMJ 317 (1998), 307-12.

Developments in PCR techniques are discussed in GEN (15 Oct. 1998), 16, 38. Preimplantation diagnosis of thalassemia is discussed in J. Assisted Reproduction & Genetics 15 (1998), 219-25; and on Marfan's syndrome, pp. 281-4; also pp. 302-7. A review is Mutton, D. et al. "Trends in prenatal screening for and diagnosis of Down syndrome: England and Wales, 1989-97", BMJ 317 (1998), 922-3; also pp. 923-4. The rate of thalassemia is rising among British Asians but falling among Cypriots due to use of screening, BMJ 317 (1998), 761-2.

Methods to analyze diversity between many samples as discussed in NatGen 20 (1998), 207-11; and data management and arrays are discussed in NatGen 20 (1998), 19-23; Science 281 (1998), 396-400. An in vivo system of ultrasound machines could resolve structures over 10mm in size, successfully, Lancet 352 (1998), 1182-6. They may reduce the need for amniocentesis, SA (Nov. 1998), 28-9; however, first trimester ultrasound also has ethical implications, BMJ 317 (1998), 694-5.

The false positive rate for breast cancer screening is lower in older women, BMJ 317 (1998), 599. The search for a biomarker for ovarian cancer continues, JAMA 280 (1998), 739, 719+. One protein p27 may be a marker for prostrate cancer, BMJ 317 (1998), 701. On cholesterol screening, BMJ 317 (1998), 1125-30. An economic evaluation of cystic fibrosis screening is Rowley, PT. e al. "Prenatal screening for cystic fibrosis carriers: An economic evaluation", AJHG 63 (1998), 1160-74.

A review of DNA chips is NS (14 Nov. 1998), 46-50. While most DNA chips are flat a patent (US # 5,843,767) has been issued for Gene Logic (Gaithersburg, MD, USA)'s Flow-thru Chip microarray device which has microscopic channels throughout the device which the sample passes through, GEN (Jan 1999), 1, 8, 34. Drug target validation can be assessed by DNA microarrays, NatMed 4 (1998), 1293+. Real-time RT-PCR after laser-assisted cell picking is reported in NatMed 4 (1998), 1329-33. Genotyping by mass spectrometry is possible, Ross, P. et al. "High level multiplex genotyping by MALDI-TOF mass spectrometry", NatBio 16 (1998), 1347-51; Laken SJ. "Genotyping by mass spectrometric analysis of short DNA fragments", NatBio 16 (1998), 1352-6; 1314-5.

It may be possible to do repeated FISH on the same blastomeres in preimplantation diagnosis, F&S 70 (1998), 729-33. Letters on antenatal screening for Down syndrome are in Lancet 352 (1998), 1631-2; 1862-3; SA (Nov. 1998), 28-9. A cost analysis suggests routine trisomy 18 screening is not justified, AJOG 179 (1998), 1220-4; but if Down syndrome detection rate is above 74% it is, Vintzileous, AM. et al. "An economic evaluation of second-trimester genetic ultrasonography for prenatal detection of Down syndrome, AJOG 179 (1998), 1214-9. However, ultrasound can detect about half of malformed babies, as found in an Oxford study, Boyd, PA. et al. "6-year experience of prenatal diagnosis in an unselected population in Oxford, UK", Lancet 352 (1998), 1577-81. There are a growing number of tests for pregnant women, Lancet 352 (1998), siv24. Early amniocentesis is becoming less popular in the UK, Brit.J.O&G 105 (1998), 1242-3. A report from UK screening in minority populations is Atkin, K. et al. "Screening and counselling for sickle cell disorders and thalassemia: The experience of parents and health professionals", SSM 47 (1998), 1639-51.

Physician behaviour is important in determining which tests are requested, JAMA 280 (1998), 2036. A new cervical smear test may improve accuracy, BMJ 317 (1998), 1611. Biochemical markers may help identify battered children, NS (28 Nov. 1998), 21. On gene testing for von Hippel-Lindau disease, MJA 169 (1998), 422-4.

A report from 35 thousand amniocentesis examinations in the University of Montreal over 20 years is AJMG 82 (1999), 149-54. Down syndrome screening risks are reviewed in Brit. JOG 106 (1999), 108-15, 371-2. On the ethics and value of medical screening, HCR 29 (No. 1, Jan. 1999), 26-37. A review of imaging of the fetus is SA (3/99), 76-81. A commentary on routine ultrasound screening in low risk pregnancies is O&G 93 (1999), 607-10. The development of fetal DNA tests from maternal blood is reviewed in NS (13 Feb. 1999), 13. However fetal DNA is rapidly cleared from maternal plasma, AJHG 66 (1999), 218-224.

There are still a number of suboptimal practices in commercial genetic testing, McGovern, MM. et al. "Quality assurance in molecular genetic testing laboratories", JAMA 281 (1999), 835-40; 845-7. Motorola has committed itself to making biochips, NS (20 March 1999), 15; and in general, NatGen 21 (1999), 61-2; Science 283 (1999), 17-8, 61. On preimplantation diagnosis for Marfan syndrome, F&S 71 (1999), 163-6; and Down syndrome, JMG 36 (1999), 45-50. A call for the upper age limit for cancer screening to be raised is BMJ 318 (1999), 831. A new method for detection of the Huntington disease trinucleotide expansion is reported in Human Mutation 13 (1999), 232-6. RNA surveillance is another method for testing, TIG 15 (1999), 74-80. Methods to study genetic hybrids are reviewed in Ecology 80 (1999), 361-70. Electrical signals can pass along DNA and there are insulators if multiple pairings of AT are found, NS (13 Feb. 1999), 19.