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ECEGEN
Medical genetics specialist reviewing a family pedigree with a couple

ECEGEN Genetic Services

Consanguineous Marriage & Genetic Diseases

Risk of congenital anomalies in consanguineous marriages and preventive steps through genetic counseling.

Consanguineous marriages double the baseline risk of congenital anomalies compared to the general population. Pre-conception genetic counseling helps identify high-risk conditions early.

Congenital anomalies, which result in structural and/or functional pathologies in the body, can also be defined as birth defects or congenital malformations. Worldwide, 300,000 newborns lose their lives each year due to this cause. Genes play an important role in many congenital anomalies. Single-gene defects, chromosomal disorders, multifactorial inheritance, and environmental teratogens are among the most significant, and often preventable, causes of congenital anomalies. Consanguineous marriage can also increase the prevalence of rare genetic congenital anomalies. It nearly doubles the existing risk of neonatal and childhood death, intellectual disability, and other abnormalities. In some populations where consanguineous marriage is common, the incidence of genetic disorders such as Thalassemia, Cystic Fibrosis, and Hemophilia is considerably higher.

Couple reviewing a family pedigree with a genetics specialist in relation to consanguinity

Do consanguineous couples always have children with anomalies?

Even when both partners carry a recessive mutation inherited from a common ancestor, the chance of affected offspring is 25% per pregnancy. First-cousin marriages carry a 3–5% risk of major birth defects.

Couple attending a genetic counseling session

Are there precautions to take to have a healthy child?

Couples planning consanguineous marriage are strongly advised to receive premarital genetic counseling. Through Preimplantation Genetic Diagnosis (PGD) or prenatal diagnostic procedures, targeted preventive measures can be taken.

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