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Prenatal diagnosis of homozygous α°‐thalassaemia by direct DNA analysis of chorionic villi in Singapore
Author(s) -
TAN J. A. M. A.,
WONG H. B.,
KITZIS A.,
YAP E. H.,
ANANDAKUMAR C.,
TAY S. H. J.
Publication year - 1989
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1989.tb01442.x
Subject(s) - medicine , prenatal diagnosis , chorionic villi , fetus , chorionic villus sampling , obstetrics , umbilical cord , gestation , thalassemia , hemoglobinopathy , pregnancy , restriction enzyme , dna , genetics , hemolytic anemia , immunology , biology
First‐trimester prenatal diagnosis by DNA analysis was carried out for seven pregnancies at risk for homozygous α°‐thalassaemia. Transabdominal placental biopsy was carried out at 10–12 weeks’gestation. The presence of α‐globin genes in the fetal DNA was determined by restriction endonuclease mapping and hybridization with cloned α‐globin probe. Homozygous α°‐thalassaemia was detected in two fetuses and the pregnancies were interrupted. α°‐thalassaemiat in both cases was confirmed by electrophoresis of the umbilical cord blood where only haemoglobin Bart's was detected. The remaining five fetuses were diagnosed as normal or as possessing α°‐thalassaemia‐1 trait and the pregnancies are being carried to term. The use of DNA analysis in prenatal diagnosis of fetuses at risk for homozygous α°‐thalassaemia enables detection of the haemoglobinopathy at 10 weeks’gestation.