title: Evaluation of prenatal diagnosis by a registry of congenital anomalies.
abstract: Prenatal diagnosis performed by fetal karyotype and ultrasound scan is now a routine part of antenatal care in many countries. How many fetal anomalies are actually detected by these procedures? We have used our registry of congenital malformations to answer this question. In our region, prenatal diagnosis was performed in 23.1 per cent of fetuses with a chromosomal aberration and in 20.1 per cent of fetuses with non-chromosomal anomalies. Only 6.9 per cent of the pregnancies with fetuses with non-chromosomal anomalies were terminated. The sensitivity of prenatal diagnosis by ultrasonographic examination was much lower for isolated malformations (fetuses with only one anomaly) than for multiple malformed children, 15.3 and 48.3 per cent respectively, chromosomal anomalies excluded.
authors.affiliation: Institut de Puériculture, Centre Hospitalier Universitaire, Strasbourg, France.
authors.forename: C
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
authors.forename: S
authors.initials: S
authors.lastname: Finck
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D000328:Adult; D000013:Congenital Abnormalities / Q000175:diagnosis*; D005069:Evaluation Studies as Topic; D005260:Female; D005602:France; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012042:Registries; D012189:Retrospective Studies; D014463:Ultrasonography