Ammara Rafique, Hajra Naz.
Association of Consanguinity with Abnormalities in the Descendants.
J Bahria Uni Med Dental Coll Jan ;13(1):34-9.

Objective: Consanguinity is often related to several abnormalities in descendants. This survey assessed the frequency of abnormalities in the descendants of consanguinity couples. Study Design & Setting: The cross-sectional survey was conducted from 01-Feb-2021 to 01-Oct-2021 with consanguinity couples residing in Pakistan or abroad. Methodology: Institutional Bioethics Committee (IBC) of Karachi University approved the study. Extensive research on PubMed, Scopus, Medline, Web of sciences, Direct Science, Springer, and Google scholar was carried out to design a structured survey after exploring major factors for special children.The form was divided into three sections encompassed fundamental and marriage-associated demographics, pre-and post-natal characteristics of normal and special children, extended family details, and perceptions regarding cousin marriage. Using snowball sampling, particularly the chain-referral method, data was collected. SPSS v.28 was used to predict the association of each variable with the existence and nonexistence of special child/children. Results: Among 503 consanguinity couples, 92.6% had none or normal descendants whereas 7.3% had special descendants of their own or from other cousin marriages in their extended families. Abnormalities including ADHD (n=9, 24.3%), Autism (n=4, 10.8%), cardiac issues (n=1, 2.7%), CP (n=5, 13.5%), deafness (n=3, 8.1%), Downs syndrome (n=1, 2.7%), dumbness (n=5, 13.5%), impaired vision (n=6, 16.2%), and mental retardation (n=3, 8.1%) were reported. However, no case of multiple sclerosis, thalassemia, Tay Sachs disease, or Schizophrenia was reported. Conclusion: Consanguinity precipitated several abnormalities in 0.073% of the population.

PakMediNet -Pakistan's largest Database of Pakistani Medical Journals -