The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations

American Journal of Medical Genetics. Part a
Joel Zlotogora, Stavit A Shalev

Abstract

The rate of malformations and major medical conditions in early childhood was analyzed in a single village according to the degree of relationship between the parents. In the village, 70-80% of the marriages are between descendants of the founders and therefore consanguineous. In the period 1992-2003, in 99 of 2,610 children, a major malformation was diagnosed at birth and seven additional fetuses were aborted because of a severe malformation. A significant medical condition was diagnosed in 38 additional children in early childhood. The total of 144 cases with malformations or a major medical condition represented 5.52% (95% CI: 4.64-6.4) of the live births. Three malformations/disorders were relatively frequent: Down syndrome, esophageal atresia, and profound deafness. The rate of malformations and significant medical conditions was 7.77% (95 CI: 5.68-9.86) when the parents were first cousins and 3.63% (95% CI: 2.11-5.15) when they were not related (P = 0.002, Fisher's exact test). Offspring of parents that were second cousins or closer but less than first cousin had a risk that was similar to the one of offspring of couples that were more distantly related. We propose therefore, that in inbred populations, all the couples th...Continue Reading

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Citations

May 11, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hanan HamamyAlan H Bittles
Mar 31, 2012·Genome Medicine·Stephen F KingsmoreCarol J Saunders
Jun 30, 2014·Journal of Community Genetics·Joël Zlotogora, Stavit A Shalev
Dec 30, 2014·BMC Medical Genomics·Guylaine D'AmoursEmmanuelle Lemyre
Aug 19, 2014·American Journal of Human Biology : the Official Journal of the Human Biology Council·Mohd Fareed, Mohammad Afzal
Nov 8, 2015·Best Practice & Research. Clinical Obstetrics & Gynaecology·Anne-Marie Nybo AndersenSarah Fredsted Villadsen
Feb 7, 2015·Journal of Community Genetics·Mubasshir AjazGurch Randhawa
Jun 16, 2015·BioMed Research International·Ariela Gordon-ShaagYutao Liu
Sep 19, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Fernanda DelgadoAnita E Beck
Nov 29, 2016·Annals of Human Biology·Mohd Fareed, Mohammad Afzal
Jun 30, 2016·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Olivia K GardnerPedro A Sanchez-Lara
Feb 2, 2018·Community Mental Health Journal·Yael LevaotIlana Shoham-Vardi
Apr 16, 2013·Optometry and Vision Science : Official Publication of the American Academy of Optometry·Ariela Gordon-ShaagEinat Shneor
Apr 4, 2020·Acta Obstetricia Et Gynecologica Scandinavica·Amihood Singer, Lena Sagi-Dain
Sep 7, 2018·Journal of Genetic Counseling·Sarah Josephi-TaylorEdwin P Kirk
Apr 10, 2019·Journal of Genetic Counseling·Sarah Josephi-TaylorEdwin P Kirk
Oct 11, 2021·Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology·Yael DInur-Schejter, Polina Stepensky

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