title: Interest of biology in the management of pregnancies where a fetal malformation has been detected by ultrasonography.
abstract: The results of two French collaborative studies are reported with respect to chromosomal and biochemical analyses following the ultrasonographic detection of a fetal anomaly. Overall, chromosomal anomalies were observed in 14.8%, ranging from 8.6% in isolated single malformations to 40.5% in multiple fetal malformations associated with intrauterine growth retardation. Acetylcholinesterase (AChE) electrophoresis was performed on the amniotic fluid of 64 cases of ultrasonographically diagnosed isolated hydrocephalus. 8 cases of previously unsuspected open neural tube defects were diagnosed by AChE. Digestive microvillar enzyme assays were useful in the precise diagnosis of suspected gastrointestinal anomaly. The correlation of the results of ultrasonography and chromosomal and biochemical analyses is the basis for the diagnosis and the prognosis of pregnancy.
authors.affiliation: INSERM U 73, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Boue
authors.forename: F
authors.initials: F
authors.lastname: Muller
authors.forename: M L
authors.initials: ML
authors.lastname: Briard
authors.forename: J
authors.initials: J
authors.lastname: Boue
mesh_terms: D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D025063:Chromosome Disorders; D004796:Clinical Enzyme Tests; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000196:embryology; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005317:Fetal Growth Retardation / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000235:genetics; D007409:Intestinal Atresia / Q000175:diagnosis / Q000235:genetics; D007621:Karyotyping; D015337:Multicenter Studies as Topic; D009436:Neural Tube Defects / Q000175:diagnosis / Q000235:genetics; D011247:Pregnancy; D014463:Ultrasonography