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Prenatal diagnosis of homozygous α°-thalassaemia by direct DNA analysis of chorionic villi in Singapore |
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| Authors: | J. A. M. A. TAN MSc Research Fellow. H. B. WONG FRCP FRCP FRACP DCH Visiting Professional Consultant. A. KITZIS MD PhD Assistant Professor. E. H. YAP PhD Associate Professor. C. ANANDAKUMAR MRCOG Senior Lecturer. S. H. J. TAY MMed MRACP MD FRACP PhD Professor Head. |
| Affiliation: | Departments of Paediatrics, National University of Singapore, Singapore.;Institut de Pathologie Moléculaire, Paris, France;Departments of Microbiology, National University of Singapore, Singapore.;Departments of Obstetrics and Gynaecology, National University of Singapore, Singapore. |
| Abstract: | Abstract 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. |
| Keywords: | chorionic villi DNA analysis prenatal diagnosis restriction endonuclease thalassaemia |