title: Impact of prenatal diagnosis on livebirth prevalence of children with congenital anomalies.
abstract: The objectives of this study were to describe the impact of prenatal diagnosis on the birth prevalence of congenital anomalies over 21 years (1979-1999) in a well defined population in northeastern France (13,500 births per year). The material for this study came from the analysis of data from multiple sources on births and terminations of pregnancy after prenatal diagnosis of congenital anomalies in 279,642 consecutive pregnancies of known outcome. The study period was divided into three subgroups 1979-1988, 1989-1993 and 1994-1999. Between 1979-1988, 1989-1993 and 1994-1999, prenatal detection of congenital anomalies increased, respectively, from 12.0% to 25.5% and to 31.7%. Termination of pregnancy (TOP) increased in the same proportions during the three time periods. However, the increase of TOP was much higher for chromosomal anomalies than for nonchromosomal congenital anomalies. The birth prevalence of Down's syndrome fell by 80% from 1979-1988 to 1994-1999. Sensitivity of prenatal detection of congenital anomalies and TOPs were lower for isolated cases (only one malformation present in the fetus) than for multiple malformations in the same fetus. Sensitivity varied with the type of malformations: it was high for neural tube defect (79.7%) and urinary anomalies (50.7%) and low for congenital heart defects (16.4%). In conclusion, the introduction of routine prenatal diagnosis has resulted in a significant fall in the birth prevalence of children with congenital anomalies. However, this fall varied with the types of congenital anomalies.
authors.affiliation: Service de Génétique Médicale, Hôpital de Hautepierre, Centre Hospitalo-Universitaire, Strasbourg, France. claude.stoll@chru-strasbourg.fr
authors.forename: Claude
authors.initials: C
authors.lastname: Stoll
authors.forename: Y
authors.initials: Y
authors.lastname: Alembik
authors.forename: B
authors.initials: B
authors.lastname: Dott
authors.forename: M P
authors.initials: MP
authors.lastname: Roth
mesh_terms: D002869:Chromosome Aberrations; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D005602:France / Q000453:epidemiology; D006801:Humans; D009436:Neural Tube Defects / Q000175:diagnosis / Q000453:epidemiology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D015995:Prevalence