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Updated: Jul 17, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Mid-pregnancy genetic terminations of pregnancy--postnatal assessment and management
A L Christianson1, H J van den Berg, P van Rensburg
1Department of Human Genetics, University of Pretoria.
Study Objective:
To assess the need for and ability to apply a postnatal assessment protocol (PNAP), consisting of clinical examination, photographs, radiographs, chromosomal analysis and postmortems, of fetuses from mid-pregnancy genetic terminations of pregnancy.
Design:
Prospective hospital-based study.
Setting:
The maternity unit at the Pretoria Academic Hospital.
Main Results:
Fifty consecutively delivered fetuses were assessed by means of the PNAP after genetic termination of pregnancy. A definitive prenatal diagnosis was available in 17 (34%) cases. In 33 (66%) cases the termination was undertaken on the basis of a provisional prenatal diagnosis which was confirmed postnatally in 12 (24%) cases; a definitive postnatal diagnosis could not be confirmed in 5 (10%) cases. In the remaining 16 (32%) cases a totally different postnatal diagnosis was obtained. The definitive postnatal diagnoses in the 28 cases with provisional prenatal diagnoses were confirmed by clinical examination in 13 (26%), by chromosomal analysis in 7 (14%), by postmortem in 5 (10%) and with radiographs in 3 (6%). On retrospective analysis, 22 of the 33 provisional prenatal diagnoses could have been confirmed using available radiographs, chromosome results and photographs only.
Conclusions:
Genetic terminations of pregnancy are a subgroup of stillbirths for which a PNAP is essential to ensure that appropriate postnatal genetic counselling can be given to the parent(s).
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