Prenatal genetic diagnosis in 3000 amniocenteses

The New England Journal of Medicine
M S GolbusB D Hall

Abstract

We analyzed 3000 consecutive amniocenteses for prenatal diagnosis to assess the frequency of abnormalities, safety of the procedure, technical and interpretive difficulties and overall diagnostic accuracy. Chromosomal abnormalities were detected in 2.4 per cent of the 2404 pregnancies tested because of advanced maternal age (greater than or equal to 35 years), in 1.2 per cent of 240 monitored because of prior trisomy 21 and in 9.1 per cent of 55 examined for other cytogenetic indications. Mosaicism was detected in 0.4 per cent, and unexpected translocations in 0.4 per cent. Amniotic fluid was obtained on the first attempt in 99.3 per cent of the last 1000 cases, and cultures established from 99.7 per cent of patients attending our clinic. The fluid was discolored in 1.2 per cent of patients, a quarter of whom had missed abortions. The rate of spontaneous abortion after amniocentesis was 1.5 per cent. There were 14 diagnostic errors, six serious enough to affect the outcome of pregnancy. The karyotyping error rate was 0.07 per cent. We conclude that prenatal diagnosis is safe, highly reliable and extremely accurate.

References

Apr 1, 1991·Prenatal Diagnosis·R L AndersonM S Golbus
Dec 1, 1995·Prenatal Diagnosis·R D Wilson
Aug 1, 1981·International Ophthalmology·R G WeleberN R Buist
May 1, 1984·European Journal of Obstetrics, Gynecology, and Reproductive Biology·W HolzgreveM S Golbus
Jan 16, 1994·Harefuah·M Shohat, P Merlob
Jun 4, 2013·Best Practice & Research. Clinical Obstetrics & Gynaecology·Dilly O C Anumba
May 15, 2013·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Chrysoula Margioula-SiarkouDavid Rousso
Jul 2, 1998·Obstetrics and Gynecology·T TongsongA Yampochai
May 17, 1980·Lancet·J T MascarelloT G Moyers
May 17, 1980·Lancet·P Lowthian
Mar 22, 1986·Lancet·L G JacksonM A Barr
Jan 18, 1986·Lancet·D MaxwellD Coleman
Jan 1, 1981·Journal of Biosocial Science·A R Boon
Jun 7, 1979·The New England Journal of Medicine·P R Wyatt
Sep 6, 1979·The New England Journal of Medicine·J C Fletcher
Sep 13, 1979·The New England Journal of Medicine·A J CohenR S Brown
Sep 27, 1979·The New England Journal of Medicine·H R Scholte, H F Busch
May 1, 1980·Proceedings of the National Academy of Sciences of the United States of America·J A PhillipsK D Smith
Sep 1, 1981·The Journal of Legal Medicine·J M Nolan-Haley
Dec 1, 1986·The Journal of Legal Medicine·R H Blank
Jul 1, 1989·Journal of Reproductive and Infant Psychology·M P M Richards
Jan 1, 1983·Issues in Health Care of Women·W J Fibison
Jan 1, 1983·Issues in Health Care of Women·W J Fibison, B L Davies
Jan 1, 1983·Issues in Health Care of Women·B L Davies
Jan 1, 1983·Social Biology·R L Andreano, D W McCollum
Jun 29, 2011·Epidemiologic Reviews·Wylie BurkeJames P Evans
Dec 25, 2004·Obstetrical & Gynecological Survey·Sureshbabu N AhanyaMichael G Ross
Sep 1, 1979·Journal of Advanced Nursing·B L Davies, W J Boniface
May 12, 1990·BMJ : British Medical Journal·J J WienerS C Farrow
Sep 1, 1994·Journal of Medical Ethics·J A Boss
Oct 9, 2009·Reproductive Biology and Endocrinology : RB&E·Norbert GleicherDavid H Barad
Jan 1, 1981·The British Journal of Radiology·E R Reddy
Aug 1, 1991·American Journal of Public Health·D C WertzR W Erbe
Jun 1, 1982·European Journal of Obstetrics, Gynecology, and Reproductive Biology·H J KwikkelN Exalto
Oct 30, 2004·Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology·A AntsaklisD Aravantinos
Jun 1, 1986·American Journal of Obstetrics and Gynecology·W A HoggeM S Golbus
Jun 1, 1986·American Journal of Obstetrics and Gynecology·E M ZornF R Tennant
Oct 15, 1984·American Journal of Obstetrics and Gynecology·L S AlgerD A Nagey
Jun 1, 1987·American Journal of Obstetrics and Gynecology·F W HansonS Samuels

Citations

Nov 27, 1976·Lancet·R E Christianson
Mar 1, 1977·American Journal of Epidemiology·P A Jacobs
Feb 1, 1978·Clinical Genetics·M L RodriguezH Hoehn
Sep 1, 1978·Clinical Genetics·S C LevineM S Golbus
Nov 1, 1977·Acta paediatrica Scandinavica·X CarbonellJ Egozcue
Sep 27, 1976·JAMA : the Journal of the American Medical Association
Aug 1, 1975·American Journal of Obstetrics and Gynecology·B D BlumbergK H Hanson
May 1, 1975·Clinical Genetics·G R SutherlandA D Bain
Jul 7, 1971·Nature: New Biology·A T SumnerR A Buckland
Mar 23, 1974·Lancet·M R Creasy, J A Crolla
Mar 30, 1974·Lancet·G A Machin
Jul 1, 1974·Acta paediatrica Scandinavica·A Lindsjö
May 1, 1974·The Journal of Pediatrics·A D BloomA R Burdi
Jun 1, 1974·Pediatric Research·D M CoxJ L Hamerton

Related Concepts

Inborn Errors of Metabolism
Autosomal Chromosome Disorders
Cytogenetics
Amniotic Fluid - Specimen Type
Tomography, Ultrasonic
Aneuploid Cell
Abortion, Tubal
Gestational Age
Down Syndrome
Multiple Pregnancy

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