Retrospective analysis of the outcomes of patients presenting for genetic counselling with fetal abnormalities
Date
2009-02-25T11:54:53Z
Authors
Todd, Caryn Jayne
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Abstract
ABSTRACT
Fetal abnormalities are congenital abnormalities that are identified prenatally, which
may be structural or functional in nature. Genetic counselling is a non-directive and
non-judgmental process of information-giving, at the same time as providing
psychosocial support. It is offered to women and their partners who have a fetal
abnormality detected during pregnancy. When a fetal abnormality is detected, the
patient can sometimes be offered a termination of pregnancy, and the decision of
whether or not to continue the pregnancy is made by the patient.
The first aim of this research was to conduct an audit of the genetic counselling
service provided by the Division of Human Genetics, NHLS and WITS, in order to
assess the level of service being offered to patients with diagnosed fetal
abnormalities. The second aim of the research was to determine what factors, if any,
influenced the decision patients made regarding whether to continue or interrupt their
pregnancy.
One hundred and seventy one files of women, who received genetic counselling for
an identified fetal abnormality during pregnancy from the division between 2002 and
2006, were included in the retrospective clinical audit.
The patients seen for genetic counselling represent 1.1 % of the estimated number of
women in Johannesburg who could have had abnormalities detected prenatally,
based on the prevalence of congenital disorders in the area and an ultrasound
prenatal detection rate of 56.2 %. Two thirds of patients who were offered TOP
chose to terminate their pregnancy. The most clinically significant predictor of the
decision to terminate an affected pregnancy was found to be an earlier gestation at
offer of TOP, which suggests that earlier detection and diagnosis of abnormalities is
beneficial to patients. Overall, 62 % of patients were not offered genetic counselling
follow-up appointments after conclusion of their pregnancy. The genetic counselling
service offered to patients thus needs to be improved, in particular, the follow-up
service patients receive after TOP or delivery is not adequate.
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Keywords
fetal abnormalities, genetic counselling