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Updated: Jun 16, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Genetic counseling for fetal abnormalities in a South African community
Caryn Todd1, Tabitha Haw, Jennifer Kromberg
1Human Genetics Division, University of the Witwatersrand and National Health Laboratory Service, PO Box 1038, Johannesburg, South Africa.
Abstract:
Fetal abnormalities are congenital abnormalities identified prenatally. Women who have a fetal abnormality detected often have to make difficult decisions regarding continuation or termination of the pregnancy. The aims of this research project were: to investigate some of the factors that influenced the decision to terminate a pregnancy in which fetal abnormalities were diagnosed; and to determine the implications for genetic counseling practice in South Africa. The study was retrospective and file-based. A total of 171 women counseled for fetal abnormalities, between 2002 and 2006, were identified and relevant data were collected from their records. Altogether 116/170 (68.2%) women were offered termination of pregnancy, and 73/113 (65%) requested the procedure. Early gestation, gestation at the time termination was offered, and ethnicity of the patient, were significantly associated with a termination request. Black patients were less likely to request termination, but more likely to receive a late diagnosis than other patients. Genetic counselors need to adopt an advocacy and educational role to improve this situation. Furthermore, a better understanding of the cultural and ethnicity-related issues is required.
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