Fetal blood chromosome analysis: some new indications for prenatal karyotyping

Summary. Prenatal karyotyping using stimulated fetal blood lymphocytes was undertaken in 170 pregnancies between 16 and 36 weeks gestation for the following reasons-(1) mosaicism or marker chromo somes found in amniotic fluid culture; (2) a family history of X-linked mental retardation with fragile Xq28; (3) fetal abnormalities detected ultrasonographically; (4) late booking or amniotic fluid culture failure in patients with advanced age or balanced translocations; and ( 5 ) twin pregnancies discordant for a chromosomal anomaly. Forty-one karyotypic abnormalities were detected (24%). These were: 45,X (7 cases). trisomy 13 ( 5 cases), trisomy 18 (6 cases), trisomy 21 (4 cases), twin pregnancy where one twin had trisomy 21 (1 case), supernumerary marker chromosome (3 cases, one of which occurred in a twin pregnancy). triploidy (3 cases), X-linked mental retardation with fragile site at Xq28 in males (6 cases), fetal erythroleukaemia (3 cases including 2 cases with Turner's), Fanconi's anaemia (1 case), unbalanced chromosome translocation 47,XY+der22,t(l1;22) mat (1 case), mos 46,XXI8p-/46,XX.-18,+i(l8q) (1 case), 46,XXde1(2q) (1 case), and 46,XYt(5;17) de novo (1 case). In fetuses at high risk of a chromosome aberration. a rapidly obtaincd karyotype is helpful and fetoscopy and fetal blood sampling are justified in the second or third trimester.