Mr. Arjun (name changed) and Ms. Shilpa (name changed) are maternal cousins. They are planning to get married. There is no significant clinical history suggestive of any genetic disorder in the family apart from hypertension in their grandparents. Pre-marital genetic counselling was done, explaining to them the risk of genetic disorder in their children ,since they are related (consanguineous)
On performing Genetic Carrier Screening on Mr. Arjun and Ms. Shilpa, they were each found to be carriers of three deleterious mutations. These mutations cause autosomal recessive primary microcephaly (CEP135 gene), xeroderma pigmentosum (ERCC3 gene) and reticular dysgenesis (AK2 gene). Microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller than normal head.
Xeroderma pigmentosum is another genetic disorder in which there is a decreased ability to repair DNA damage and symptoms may include freckles, dry skin, and changes in skin pigmentation, nervous system problems, such as poor coordination, loss of intellectual function. The third condition, reticular dysgenesis is one of the rarest and most severe forms of combined immunodeficiency. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. All the three conditions are very severe and will need medical intervention that could alter the life of the couple.Thus , even in absence of any family history, they were found to be at risk of having an affected child with a genetic disorder not in one but three severe genetic disorders. . It is well known in literature that almost 80% of the couples screened do not have any family history and their carrier status is known only after the birth of a child with genetic disorder is born.
Summary
- Pre-marital carrier testing and genetic counselling can give an insight into the possibility of recessive disorder that is getting passed on through generations in families. Such couples can take informed decisions regarding their future and family planning decisions can be discussed after marriage.
- Counselling and prenatal testing in such cases can prove to be beneficial and opens multiple options on reproductive choices.
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MedGenome offers the most accurate Non-Invasive Prenatal Screening Test (NIPT), the Genetic Carrier Screening Test, Preimplantation Genetic Screening/Diagnosis (PGS/PGD) and Product of Conception testing.
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