CALL US NOW (+9242)-35181549

Informed choice in genetic screening for thalassaemia during pregnancy: audit from a national confidential inquiry

Authors: Darlison, Mary Petrou, John Old, Mark Layton and Lysandros Varnavides
Bernadette Modell, Rodney Harris, Beverley Lane, Maren Khan, Matthew

Download (PDF, 296KB)

Objective National audit of informed choice in
antenatal screening for thalassaemia.
Design Audit from the UK Confidential Enquiry into
Counselling for Genetic Disorders.
Setting Thalassaemia module of the UK Confidential
Enquiry into Counselling for Genetic Disorders.
Subjects 138 of 156 couples who had had a
pregnancy affected by a major â thalassaemia from
1990 to 1994.
Main outcome measures How and when genetic risk
was identified for each couple, and whether and when
prenatal diagnosis was offered.
Results Risk was detected by screening before or
during the first pregnancy in 49% (68/138) of couples
and by diagnosis of an affected child in 28% (38/138)
of couples. Prenatal diagnosis was offered in 69%
(274/400) of pregnancies, ranging from 94%
(122/130) for British Cypriots to 54% (80/149) for
British Pakistanis and from 90% in the south east of
England to 39% in the West Midlands. Uptake of
prenatal diagnosis was 80% (216/274), ranging from
98% (117/120) among British Cypriots in either the
first or second trimester to 73% (35/48) among
British Pakistanis in the first trimester and 39%
(11/28) in the second trimester. A demonstrable
service failure occurred in 28% (110/400) of
pregnancies, including 110 of 126 where prenatal
diagnosis was not offered and 48 of 93 that ended
with an affected liveborn infant.
Conclusion Although antenatal screening and
counselling for haemoglobin disorders are standard
practices in the United Kingdom, they are delivered
inadequately and inequitably. An explicit national
policy is needed, aiming to make prenatal diagnosis in
the first trimester available to all couples and
including ongoing national audit.