Parental consanguinity in specific types of congenital anomalies

Am J Med Genet. 2001 Jul 22;102(1):36-43. doi: 10.1002/1096-8628(20010722)102:1<36::aid-ajmg1394>;2-m.


Parental consanguinity, as a recognized risk factor for congenital anomalies, has mainly been studied with a focus on the types of parental relationships and their effects on genetic syndromes or birth defects in general. The present work analyzed the association between parental consanguinity and congenital anomalies, split, when possible, into clinical subtypes, in an attempt to obtain some insight into their recognized etiological heterogeneity. The material consisted of 34,102 newborn infants, affected by one of 47 selected congenital anomaly types, ascertained by the Latin-American Collaborative Study of Congenital Malformations (ECLAMC) during the period from 1967 to 1997. The consanguinity rate for each congenital anomaly type was compared with that of the population under study (0.96%), and the potentially confounding effect of six selected variables was controlled through a conditional logistic regression analysis for those congenital anomalies significantly associated with consanguinity. Pre-occurrence rates for the same congenital anomaly in sibships of consanguineous and non-consanguineous cases were compared. A significant association with parental consanguinity was observed for three congenital anomaly types: hydrocephalus, postaxial hand polydactyly, and bilateral cleft lip +/- cleft palate, while three additional anomalies, namely, cephalocele, microcephaly, and hand + foot postaxial polydactyly, showed a positive association, but statistical significance disappeared after adjustment for confounders, probably owing to sample size reduction. The association between consanguinity and Down syndrome was mainly due to the confounding effect of maternal age, while for hydrops fetalis and 2-3 toe syndactyly, the observed positive association could not be tested for confounders due to sample size reduction.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cleft Lip / genetics
  • Cleft Palate / genetics
  • Congenital Abnormalities / genetics*
  • Consanguinity*
  • Down Syndrome / genetics
  • Encephalocele / genetics
  • Female
  • Humans
  • Hydrocephalus / genetics
  • Hydrops Fetalis / genetics
  • Infant, Newborn
  • Male
  • Microcephaly / genetics
  • Polydactyly / genetics
  • Syndactyly / genetics