DefinePK

Research Objective

To assess the frequency of abnormalities in the descendants of consanguinity couples.

Methodology

A cross-sectional survey was conducted from February 1, 2021, to October 1, 2021, with consanguinity couples residing in Pakistan or abroad. The study received approval from the Institutional Bioethics Committee (IBC) of Karachi University. A structured survey was designed after extensive literature review on PubMed, Scopus, Medline, Web of Science, Direct Science, Springer, and Google Scholar. The survey form comprised three sections: fundamental and marriage-associated demographics, pre- and post-natal characteristics of normal and special children, and extended family details and perceptions regarding cousin marriage. Data was collected using snowball sampling. SPSS v.28 was used for statistical analysis to predict the association of variables with the existence and non-existence of special children.

Methodology Flowchart

                        graph TD;
    A["Ethical Approval"] --> B["Literature Review"];
    B --> C["Survey Design"];
    C --> D["Data Collection via Snowball Sampling"];
    D --> E["Data Analysis using SPSS v.28"];
    E --> F["Results Interpretation"];
    F --> G["Conclusion"];                    

Discussion

The study suggests that consanguinity is associated with a higher probability of abnormalities in descendants, likely due to the increased chance of sharing pathological alleles. While most consanguinity couples had normal descendants, a notable percentage reported special children. The findings highlight associations between special children and various demographic, prenatal, and familial factors. The authors emphasize the need for increased awareness regarding the risks of consanguineous marriages and suggest genetic counseling as a prudent measure. Limitations include potential inaccuracies in self-reported data and the reliance on snowball sampling.

Key Findings

Out of 503 consanguinity couples surveyed, 92.6% had normal descendants, while 7.3% had special descendants. Reported abnormalities included ADHD (24.3%), impaired vision (16.2%), Cerebral Palsy (13.5%), dumbness (13.5%), Autism (10.8%), mental retardation (8.1%), deafness (8.1%), cardiac issues (2.7%), and Down's syndrome (2.7%). No cases of multiple sclerosis, thalassemia, Tay Sach's disease, or Schizophrenia were reported. The existence of special children was statistically associated with the mother's blood group, delivery type, gestational age, birth weight, type of specialty, and IQ of children. First cousin marriages in extended families, reasons for cousin marriage, views about cousin marriage, and willingness to marry children to cousins were also significantly associated with the presence of special children.

Conclusion

Consanguinity is associated with several abnormalities in descendants, observed in 7.3% of the surveyed population. Further research is needed to elucidate the exact mechanisms. Genetic counseling is recommended to mitigate the genetic, social, and economic burdens associated with abnormalities linked to consanguinity.

Fact Check

* Date Range: The survey was conducted from 01-Feb-2021 to 01-Oct-2021. (Confirmed)
* Sample Size: 503 consanguinity couples participated in the survey. (Confirmed)
* Abnormality Frequency: 7.3% of consanguinity couples had special descendants. (Confirmed)

Mind Map