title: [The value of prenatal chromosomal diagnosis in cases of fetal abnormalities: results obtained in 468 pathological pregnancies].
abstract: The authors report the results of 468 foetal karyotypes performed on amniotic fluid or foetal blood samples after ultrasound discovery of foetal anomalies. A total of 46 chromosomal aberrations (10%) were detected. The rates of anomalies vary considerably according to the alarm sign; very high (greater than 30%) in cases of multiple malformations, foetal hydrops or foetal death, low (less than or equal to 2%) in cases of poly- or oligohydramnios and foetal growth retardation without detectable malformation. In addition to these chromosomal diagnoses, further investigations enabled in 9 cases the diagnosis of genetic autosomal recessive disorders. Our results which are comparable with those reported in the literature, demonstrate the importance of prenatal diagnosis in cases of pathological pregnancies, with regard to obstetrical and perinatal management as well as to genetic counseling.
authors.affiliation: Laboratoire de cytogénétique, Hôpital Brugmann, Bruxelles.
authors.forename: E
authors.initials: E
authors.lastname: Vamos
authors.forename: C
authors.initials: C
authors.lastname: Elmer
authors.forename: S
authors.initials: S
authors.lastname: Lévi
authors.forename: N
authors.initials: N
authors.lastname: el Khazen
authors.forename: C
authors.initials: C
authors.lastname: Donner
authors.forename: F
authors.initials: F
authors.lastname: Avni
authors.forename: F
authors.initials: F
authors.lastname: Rodesch
mesh_terms: D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D025063:Chromosome Disorders; D000013:Congenital Abnormalities / Q000175:diagnosis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis*; D011296:Prenatal Diagnosis
vernacular_title: Intérêt du diagnostic chromosomique prénatal en cas d'anomalies foetales: résultats obtenus dans 468 grossesses pathologiques.