Sixteen years' experience of counselling, diagnosis, and prenatal detection in one genetic centre: progress, results, and problems
- PMID: 469894
- PMCID: PMC1012687
- DOI: 10.1136/jmg.16.3.166
Sixteen years' experience of counselling, diagnosis, and prenatal detection in one genetic centre: progress, results, and problems
Abstract
The work of one Genetic Centre over 16 years, covering about 14 000 kinships, is described. The numbers registered in a year increased from an average of 477 in the early 1960s to 1612 in 1976/1977. The increase is largely, but not entirely, attributable to the advent of prenatal diagnosis, and an account is given of our experience with this. In 1916 patients who had a successful amniocentesis, results indicative of fetal abnormality were found in 4.3% and a balanced translocation was found in an additional 0.9%. Results indicative of fetal abnormality were found in 3.5% of mothers referred because of a maternal age of 40 or more, 3.9% referred because of a high risk of neural tube defect, and 19.3% referred because of a high risk of an inborn error of metabolism. A number of cases with difficult diagnostic problems are described.
Similar articles
-
Antenatal monitoring of genetic disorders.Clin Obstet Gynaecol. 1979 Aug;6(2):259-93. Clin Obstet Gynaecol. 1979. PMID: 387326 Review. No abstract available.
-
Prenatal diagnosis of hereditary disease and congenital defects.Pediatr Ann. 1981 Feb;10(2):22-37. Pediatr Ann. 1981. PMID: 7220122 No abstract available.
-
Antenatal diagnosis of fetal abnormality.Midwife Health Visit Community Nurse. 1980 Feb;16(2):46-51. Midwife Health Visit Community Nurse. 1980. PMID: 6900873 No abstract available.
-
Genetic counseling before prenatal diagnosis for advanced maternal age: an important medical safeguard.Obstet Gynecol. 1983 Aug;62(2):155-9. Obstet Gynecol. 1983. PMID: 6866356
-
Genetics: update on prenatal screening and diagnosis.Obstet Gynecol Clin North Am. 2015 Jun;42(2):193-208. doi: 10.1016/j.ogc.2015.01.011. Obstet Gynecol Clin North Am. 2015. PMID: 26002161 Review.
Cited by
-
Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.J Med Genet. 1981 Jun;18(3):161-95. doi: 10.1136/jmg.18.3.161. J Med Genet. 1981. PMID: 7017147 Free PMC article. Review.
-
Recurrence risks for neural tube defects in a genetic counseling clinic population.J Med Genet. 1981 Aug;18(4):245-8. doi: 10.1136/jmg.18.4.245. J Med Genet. 1981. PMID: 7277415 Free PMC article.
-
Paul Polani and the development of medical genetics.Hum Genet. 2007 Jan;120(5):723-31. doi: 10.1007/s00439-006-0271-5. Hum Genet. 2007. PMID: 17066298 Free PMC article.
-
The development of clinical genetics.J Med Genet. 1981 Dec;18(6):405-9. doi: 10.1136/jmg.18.6.405. J Med Genet. 1981. PMID: 6801261 Free PMC article. No abstract available.
-
Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature.Hum Genet. 1995 Jul;96(1):119-29. doi: 10.1007/BF00214200. Hum Genet. 1995. PMID: 7607645 Review.
References
MeSH terms
LinkOut - more resources
Full Text Sources