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Clinical experience with 50 cases of first‐trimester fetal diagnosis by chorionic biopsy
Author(s) -
Anderson John C.,
Trent Ronald J.,
Smith Arabella,
Boogert Antheunis,
den Dulk Gesina,
Fisk Nicholas,
Warr Rhonda G.,
Shearman Rodney P.
Publication year - 1986
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.1986.tb113659.x
Subject(s) - fetus , prenatal diagnosis , chorionic villi , biopsy , medicine , obstetrics , karyotype , pregnancy , chorionic villus sampling , first trimester , cell free fetal dna , gynecology , pathology , chromosome , biology , genetics , gene
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 patientswere karyotyped. A DNA analysisfor the detection of homozygous β‐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 β‐thalassaemia.