Document Type

Journal Article

Publisher

Wiley

Faculty

Faculty of Health, Engineering and Science

School

School of Medical Sciences / Systems and Intervention Research Centre for Health

RAS ID

18197

Comments

This is the peer reviewed version of the following article: [Becker R., Keller T., Wegner R.-D., Neitzel H., Stumm M., Knoll U., Stark M., Fangerau H., & Bittles A. (2015). Consanguinity and pregnancy outcomes in a multi-ethnic, metropolitan European population. Prenatal Diagnosis, 35(1), 81-89], which has been published in final form here. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.

Abstract

Objective: The aim of the present study was to assess the risk of major anomalies in the offspring of consanguineous couples, including data on the prenatal situation. Methods: Over 20years (1993-2012), 35391 fetuses were examined by prenatal sonography. In 675 cases (1.9%), parents were consanguineous, with 307 couples (45.5%) related as first cousins, 368 couples (54.5%) beyond first cousins. Detailed information was retrieved on 31710 (89.6%) fetuses, (consanguineous 568: 1.8%). Results: Overall prevalence of major anomalies among fetuses with non-consanguineous parents was 2.9% (consanguineous, 10.9%; first cousins, 12.4%; beyond first cousins, 6.5%). Adjusting the overall numbers for cases having been referred because of a previous index case, the prevalences were 2.8% (non-consanguineous) and 6.1% (consanguineous) (first cousin, 8.5%; beyond first cousin, 3.9%). Further adjustment for differential rates of trisomic pregnancies indicated 2.0%/5.9% congenital anomalies (non-consanguineous/consanguineous groups), that is, a consanguinity-associated excess of 3.9%, 6.1% in first cousin progeny and 1.9% beyond first cousin. Conclusions: The prevalence of major fetal anomalies associated with consanguinity is higher than in evaluations based only on postnatal life. It is important that this information is made available in genetic counselling programmes, especially in multi-ethnic and multi-religious communities, to enable couples to make informed decisions.

DOI

10.1002/pd.4487

Access Rights

free_to_read

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