According to a research by Guru Nanak Dev University (GNDU), 37,000 children in India are born every year with Down syndrome or mongolism genetic disorder, which has discrepancies like the flattened nose, hanging tongue, open mouth, and intellectual disability. Genetic analysis was conducted here by Dr. Anupam Kaur, Professor, Human Genetics, GNDU about future options for suspected cases of chromosomal anomalies and counseling and reproductive wastage of families with genetic diseases. His reports on the chromosomal analysis performed on hundreds of children with mental retardation and microcephaly have been published in international journals.
Dr. Kaur conducted genetic counseling in more than 500 families with Down syndrome children to find out if the child had a trisomy, translocation, or mosaicism. In India, annually 37,000 children are born with Down syndrome or mongolism genetic disorder, with discrepancies such as the flattened nose, hanging tongue, open mouth, a considerable gap between toes, and intellectual disability. Dr. The Kaur-led research team found a strong association with two or more genetic variants of the folate pathway gene, particularly the variant CBS 844 INS68 in women from North India who had Down syndrome children. A positive association of folic acid deficiency before and during an abortion is reported in mothers with an increased risk of childbirth with Down syndrome.
In the first report of its kind from North India, Dr. Anupam Kaur identified an association of 8 polymorphisms in genes affecting inflammation and immune response in abortion, with reference to the adverse consequences of infertility and pregnancy. -G and VEGF-A, are included. The study also revealed a strong association of six genetic variants in the cytokine genes, CYP11A1, CYP17A1, and CYP11B2, in polycystic ovary syndrome (PCOS). Non-treatment of PCOS can lead to female infertility, endometrial cancer, or ovarian cancer.
They conclude that early intervention and genetic counseling with genetic analysis allow for a better prognosis for future pregnancies and reduce the burden of genetic disease.