The Journey of Mr. Arjun and Ms. Shilpa

Mr Arjun (name changed) and Ms Shilpa (name changed) are maternal cousins who were planning to get married. There was no significant clinical history suggestive of any genetic disorder in either of their families, except for a history of hypertension in their grandparents. As they are related by blood (a consanguineous union), they underwent pre-marital genetic counselling to understand the potential risk of genetic disorders in their future children.

Following counselling, both individuals opted for genetic carrier screening. The results revealed that each of them was a carrier of three deleterious mutations associated with the following autosomal recessive conditions: Primary microcephaly (CEP135 gene), Xeroderma pigmentosum (ERCC3 gene),and Reticular dysgenesis (AK2 gene).

Primary microcephaly is a condition in which the brain does not develop properly, resulting in a head size that is significantly smaller than normal.

Xeroderma pigmentosum is a genetic disorder characterised by a reduced ability to repair DNA damage. Clinical features may include extreme sensitivity to sunlight, freckles, dry skin, changes in skin pigmentation, and neurological problems such as poor coordination and loss of intellectual function.

Reticular dysgenesis is one of the rarest and most severe forms of combined immunodeficiency. It is characterised by congenital agranulocytosis, lymphopenia, and underdevelopment of lymphoid and thymic tissues, resulting in the absence of both cellular and humoral immune function.

All three conditions are severe and require long-term medical intervention, significantly impacting the quality of life of both the affected child and the family. Despite the absence of any known family history of genetic disorders, this couple was found to be at risk of having a child affected by not one, but three severe genetic conditions. Medical literature suggests that nearly 80% of couples identified as carriers have no known family history, and their carrier status often becomes evident only after the birth of an affected child.

Summary

• Pre-marital carrier testing and genetic counselling provide valuable insights into recessive genetic disorders that may be silently passed down through generations. Such testing enables couples to make informed decisions regarding marriage, family planning, and future reproductive options.

• In high-risk situations such as consanguineous marriages, counselling combined with prenatal testing can be especially beneficial, offering multiple reproductive choices and helping reduce the risk of severe genetic disorders.

About MedGenome

MedGenome offers highly accurate non-invasive prenatal testing (NIPT), genetic carrier screening, preimplantation genetic screening/diagnosis (PGS/PGD), and product of conception (POC) testing. In addition, MedGenome provides on-demand pre- and post-test genetic counselling to support patients at every stage of their testing journey.

MedGenome Claria Offers	Test Sample Requirements	Required Forms	TAT
Career screening panel package: Silver-200 genes Gold-500 genes Platinum-Over 2000 gene MLPA(SMN,DMD,CYP21A2)		Relevant clinical information including all the clinical presentations and symptoms.	21 to 28 days