Prenatal genetic counseling and consanguinity

To evaluate the prevalence of consanguineous patients at a Western European prenatal genetic counseling clinic and to describe demographic as well as health-related characteristics of this patient group.

Retrospective analysis of 1964 primary consultations at the Prenatal Genetic Counseling Outpatient Clinic at the Medical University of Vienna General Hospital in Austria. Characteristics of consanguineous patients were compared with those of a control group of not-related unions.

A total of 8.9% (174/1964) of all patients lived in a consanguineous union, meaning they were related as second cousin or closer [78.7% (137/174) first cousin, 14.4% (25/174) second cousin, 6.3% (11/174) first cousin once removed or 0.6% (1/174) uncle/niece]. Consanguineous patients were significantly younger (26.6 ± 5.4 vs 30.4 ± 6.5, p < 0.01) and of non-Austrian background [92.5% (161/174) vs 32.8% (57/174), p < 0.01] than not-related controls. Forty-six per cent (80/174) were referred during an ongoing pregnancy. The main counseling issue was family history of consanguinity (ICD Z84.3) in 31.6% (55/174) of cases.

Estimations of the prevalence of consanguinity among the general population in Western Europe likely highly underestimate the evaluated prevalence among patients referred for prenatal genetic counseling. Counseling strategies need to take into consideration that consanguineous patients are more likely to be young and have an immigrant background.