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Genetic counselling in prenatally diagnosed non-chromosomal fetal abnormalities

Current Opinion in Obstetrics & GynecologyPublished 1 April 2000
David Chitayat, Riyana Babul‐Hirji
Citations13
SJR quartileQ2
SJR score0.70
SNIP0.81

TL;DR

Advances in technology and skills have resulted in the improved detection of fetal ultrasound abnormalities by ultrasound and the development of new diagnostic methods has resulted in major advances in ability to detect microscopic and submicroscopic chromosome abnormalities as well as single gene disorders.

Abstract

Advances in technology and skills have resulted in the improved detection of fetal ultrasound abnormalities by ultrasound. In addition, the development of new diagnostic methods has resulted in major advances in our ability to detect microscopic and submicroscopic chromosome abnormalities as well as single gene disorders. This often enables us to provide the family with accurate information regarding the aetiology, prognosis, the risk of recurrence and the prenatal diagnosis options available in future pregnancies. Genetic counselling is important because this information should be communicated to the family in simple language, with care and sensitivity, so that the family can make decisions that are fully informed.

Keywords

Medicine