C. Stoll et al., PARENTAL CONSANGUINITY AS A CAUSE OF INCREASED INCIDENCE OF BIRTH-DEFECTS IN A STUDY OF 131,760 CONSECUTIVE BIRTHS, American journal of medical genetics, 49(1), 1994, pp. 114-117
The risk for birth defects in the offspring of first cousin parents is
substantially higher than in the offspring of non-consanguineous pare
nts. As a general decline in the frequency of consanguineous marriages
was observed in this century, one wonders whether consanguinity is st
ill a factor in the appearance of birth defects in developed countries
. Based on our registry of congenital anomalies, we think that the ans
wer to this question is ''yes.'' In the population studied in Northeas
tern France, consanguineous matings were known in 1.08% of the cases w
ith congenital anomalies, vs. 0.28% in controls (P < 0.001). The frequ
ency of the malformations recorded paralleled the degree of consanguin
ity: out of 38 malformed children, 24 were seen in first cousin mating
s (10.5 times more frequent than in offspring of nonconsanguineous cou
ples), 8 in second cousin marriages, and 6 in more distantly consangui
neous matings. Consanguineous mothers were more often pregnant than no
nconsanguineous mothers (P < 0.01) and they had more stillbirths than
nonconsanguineous mothers. These results must be taken into account wh
en counseling consanguineous couples.