Prevalence of congenital anomalies at birth among offspring of women at risk for a genetic disorder and with a normal second-trimester ultrasound

E LemyreL Dallaire


The goal of this study was to determine the prevalence and the nature of congenital anomalies found at birth in offspring of women who had a normal second-trimester ultrasound and/or amniocentesis. Two groups of women were studied in our prenatal diagnosis clinic between 1991-1997. Group 1 consisted of pregnant women who had an amniocentesis for advanced maternal age (AMA), or for familial chromosomal or monogenic disorders. Group 2 consisted of pregnant women attending the prenatal diagnosis clinic and who had no indication for amniocentesis. Those with an abnormal ultrasound and/or amniocentesis were excluded. At the time of delivery, a questionnaire was sent pertaining to perinatal complications and the anomalies detected during the neonatal period. From a total of 15, 370 questionnaires sent from 1991-1997, 10,823 (group 1, n = 8,877; group 2, n = 1,946) were returned (overall response rate, 70.4%). Mean maternal age was 36 years in group 1 and 29 years in group 2. The prevalence of perinatal complications was similar in the two groups. In each group, the prevalence of all unforeseen anomalies was 2.9%. In group 1, the distribution of those anomalies was: major anomalies, 67.7%; minor anomalies, 23.9%; and multiple congenit...Continue Reading


Jan 1, 1990·Women's Health Issues : Official Publication of the Jacobs Institute of Women's Health·K J Ryan
May 1, 1970·Acta paediatrica Scandinavica·H EkelundB Källén
Jan 1, 1970·Acta Paediatrica Scandinavica. Supplement·A Klemetti, L Saxén
Aug 1, 1981·International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics·E KujansuuR Tuimala
Dec 1, 1994·American Journal of Obstetrics and Gynecology·L F GonçalvesJ M Piper

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May 17, 2000·Current Opinion in Obstetrics & Gynecology·D Chitayat, R Babul-Hirji

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