Publications (2)5.23 Total impact
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Article: Maternal 3;13 chromosome insertion, with severe pre-eclampsia.
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ABSTRACT: A previously healthy young primigravida suffered very severe pre-eclampsia and was delivered at 32 weeks gestation. The baby was growth retarded with dysmorphic features, and died aged 4 days. Chromosome analysis of the baby revealed partial trisomy 13 resulting from recombination within a maternal insertion of part of 13q into 3p. To date, the maternal insertion has been identified in a further three members of the family and may have contributed to a number of spontaneous abortions, stillbirths and neonatal deaths in other family members. The various possibilities for recombination and malsegregation are discussed. An association between pre-eclampsia and trisomy 13 has been reported previously. To our knowledge this present paper constitutes the first report of partial trisomy for 13q occurring with pre-eclampsia.Clinical Genetics 02/1995; 47(1):17-21. · 3.13 Impact Factor -
Article: Practical experience using transabdominal chorionic villus biopsies taken after 16 weeks' gestation for rapid prenatal diagnosis of chromosomal abnormalities.
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ABSTRACT: Placental biopsy was performed on 81 patients at greater than 16 weeks' gestation. The major indication for such biopsies was an increased risk of chromosomal abnormality because of either abnormal ultrasound findings or late presentations for advanced maternal age. Six abnormal karyotypes resulting in elective termination were found. The use of rapid karyotyping by this procedure as an alternative to amniocentesis or fetal blood sampling is discussed.Prenatal Diagnosis 06/1989; 9(5):357-9. · 2.11 Impact Factor
