Clinical experience with 50 cases of first-trimester fetal diagnosis by chorionic biopsy.
Prenatal diagnosis by chorionic biopsy was undertaken between the eighth and 12th weeks of pregnancy in 50 patients at risk of chromosomal or genetic abnormalities. Samples from 45 patients were karyotyped. A DNA analysis for the detection of homozygous beta-thalassaemia was undertaken in five patients. The sample from one patient at risk of haemophilia in the fetus was subjected to DNA analysis after a male fetus was confirmed on karyotyping. Abnormal karyotypes were detected in four fetuses while three had homozygous beta-thalassaemia.
D000022:Abortion, Spontaneous / Q000209:etiology; D000328:Adult; D001706:Biopsy / Q000009:adverse effects; D002824:Chorionic Villi / Q000648:ultrastructure*; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D004247:DNA / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000379:methods*
D004247:DNA