title: Evaluation of prenatal diagnosis of cleft lip/palate by foetal ultrasonographic examination.
abstract: Ultrasound scans in the midtrimester of pregnancy are now a routine part of antenatal care in many countries. This type of screening procedure can detect serious foetal anomalies. Thanks to our registry of congenital anomalies a study was undertaken. The objective of the study was to evaluate prenatal detection of cleft lip (palate)(CL/P) by routine ultrasonographic examination of the foetus in 265679 consecutive pregnancies from 1979 to 1998. The percentage of prenatal detection of CL/P was low. For isolated malformation (foetuses with only CL/P) the detection rate was low: 17.8%; however, this detection rate increased from 5.3% during the period 1979-1988 to 26.5% during the period 1989-1998, for foetuses with associated malformations (foetuses with CL/P and one or more additional major malformations) these detection rates were 34.6, 13. 3 and 50.0%, respectively. In foetuses with associated malformations with CL/P this detection rate was higher for chromosomal abnormalities with CL/P and for non-syndromic, non-chromosomal multiply malformed children with CL/P than for non-chromosomal recognized syndromes with CL/P.
authors.affiliation: Service de génétique médicale, hôpital de Hautepierre, centre hospitalo-universitaire, Strasbourg, France. claude.stoll@chru-strasbourg.fr
authors.forename: C
authors.initials: C
authors.lastname: Stoll
authors.forename: B
authors.initials: B
authors.lastname: Dott
authors.forename: Y
authors.initials: Y
authors.lastname: Alembik
authors.forename: M
authors.initials: M
authors.lastname: Roth
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology; D002869:Chromosome Aberrations / Q000453:epidemiology; D025063:Chromosome Disorders; D002971:Cleft Lip / Q000000981:diagnostic imaging* / Q000196:embryology / Q000453:epidemiology; D002972:Cleft Palate / Q000000981:diagnostic imaging* / Q000196:embryology / Q000453:epidemiology; D005260:Female; D005602:France / Q000453:epidemiology; D006771:Hospitals, Maternity; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D012042:Registries; D013577:Syndrome; D014314:Trisomy; D016216:Ultrasonography, Prenatal