title: Prenatal diagnosis of tetraploidy.
abstract: A pregnancy was terminated at 24 weeks of amenorrhea when tetraploidy (92 XXXX) was diagnosed in fetal blood subsequent to ultrasonographic detection of a polymalformation syndrome. The severity of the neurological deficit in tetraploid infants and their death before 2 years of age require that prenatal diagnosis by cordocentesis be performed for analysis of fetal blood in cases of equivocal and nonspecific polymalformation syndrome and justify that medically-induced termination of pregnancy is suggested in the event of intrauterine tetraploidy diagnosis.
authors.affiliation: Département de Gynécologie Obstétrique, Biologie de la Reproduction, Centre Hospitalier Régional Universitaire de Nantes, France.
authors.forename: P
authors.initials: P
authors.lastname: Sagot
authors.forename: M F
authors.initials: MF
authors.lastname: Nomballais
authors.forename: A
authors.initials: A
authors.lastname: David
authors.forename: M
authors.initials: M
authors.lastname: Yvinec
authors.forename: M P
authors.initials: MP
authors.lastname: Beaujard
authors.forename: P
authors.initials: P
authors.lastname: Barrière
authors.forename: G
authors.initials: G
authors.lastname: Boog
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D000032:Abortion, Therapeutic; D000328:Adult; D001921:Brain / Q000002:abnormalities; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002971:Cleft Lip / Q000235:genetics; D017218:Cordocentesis; D005260:Female; D005312:Fetal Blood; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging / Q000235:genetics; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities; D008423:Maternal Age; D011123:Polyploidy; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D018566:Pregnancy, High-Risk; D016216:Ultrasonography, Prenatal