Genetic Analysis and Counselling regarding future options of Suspected Chromosomal Anomalies: Department of Human Genetics, GNDU

Amritsar, June 30, 2020: Genetic analysis regarding future options of suspected cases of chromosomal anomalies and counselling to the families with genetic diseases and reproductive wastage has been conducted by Dr.Anupam Kaur, professor, Department of Human Genetics,GNDU. Reports on Chromosomal Analysis carried out on hundreds of children with mental retardation and microcephaly , rare aneuploidies and syndromes have been published in international journals.

Genetic counselling was conducted by Dr.Anupam Kaur on more than 500 families with Down syndrome children alongwith diagnostic cytogenetic analysis to figure out if the child has free trisomy, translocation or mosaicism. In India, 37,000 children are born annually with Down syndrome or ‘mongolism’ having features like depressed nasal bridge, protruding, tongue, open mouth, gap between toes and intellectual disability.

The research team led by Dr.Anupam Kaur found a strong association with two or more genetic variants of folate pathway genes specially the variants CBS844 ins68 in women from North India having down syndrome children. A positive association of folic acid deficiency before and during conception in mothers with increased risk of birth of a Down syndrome child was reported.

In context of infertility and adverse pregnancy outcome, in first of its kind reports from North India, Dr.Anupam Kaur, identified an association of 8 polymorphic variants in genes influencing inflammatory and immune response; TNF-a,HLA-G and VEGF-A, in recurrent miscarriages. The study also revealed a strong association of six genetic variants in cytokime genes, CYP11A1,CYP17A1 and  CYP11B2 in polycystic ovary syndrome (PCOS). Non treatment of PCOS may lead to female infertility, endometrial cancer or ovarian cancer.

The basis of the pregnancy loss remains undiagnosed in half of the young couples with fertility related problems. It is evident from published International studies from the department of Human Genetics, early interventions with combined cytogenetic and molecular genetic analysis and genetic counselling allows better prognosis for future pregnancies and decrease genetic disease burden.

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