<p>Bengaluru: The burden of genetic disorders in India is increasing, according to research published in the Orphanet Journal of Rare Diseases, a medical journal. </p>.<p>The study shows that haematologic disorders, including thalassemia, top the list followed by inborn metabolism disorders and neurological disorders in newborns. </p>.<p>The study compiled prenatal samples from 2008 to 2022. These samples were from individuals identified as being at high risk for rare genetic disorders based on family history, previous affected children and abnormal ultrasound findings. With growing awareness of genetic disorders, universal newborn screening has increased in Bengaluru even in the absence of a government facility to conduct the screening. </p>.<p>Dr Parimala V Thirumalesh, lead senior consultant - neonatology and paediatrics, said, “Some of the most-detected genetic and inherited disorders include thalassemia, congenital hypothyroidism, glucose-6-phosphate dehydrogenase (G6PD) deficiency, sickle cell disease, cystic fibrosis and spinal muscular atrophy (SMA). Metabolic disorders such as phenylketonuria and congenital adrenal hyperplasia are also identified through newborn screening.”</p>.<p>Newborn screening helps in early diagnosis and early interventions, reduces complications and improves child’s long-term quality of life. </p>.<p>Stressing the importance of early detection, Dr Bhavana Girish, IVF specialist, said, “Early detection in genetic and metabolic disorders is extremely important as symptoms are absent at birth, and by the time they become symptomatic, irreversible damage to the brain, liver and heart may have already happened. If detected before symptoms appear, we can manage these conditions with timely intervention”. </p>.<p class="CrossHead">Genetic testing for embryos </p>.<p>Couples choosing In-Vitro Fertilisation (IVF) also rely on Preimplantation Genetic Testing (PGT), which provides genetic insights of the embryos that will be transferred to the woman’s uterus. </p>.<p>Doctors conduct two kinds of tests on the embryos: PGT-A, which tests for Down’s syndrome and other similar disorders and PGT-M tests for inherited disorders like thalassemia. </p>.<p>Dr Rubina Pandit, fertility specialist, said, “The testing is typically performed around the fifth day after fertilisation during IVF. The embryo at this stage contains approximately 100 to 200 cells. Scientists remove a small number of cells from the trophectoderm, which will develop into the placenta while they keep the inner cell mass intact because it will develop into the foetus.” </p>.<p>She said improved biopsy techniques have reduced harm to embryos and IVF centres now commonly freeze embryos after biopsy until the genetic results are available, after which suitable embryos are transferred.</p>
<p>Bengaluru: The burden of genetic disorders in India is increasing, according to research published in the Orphanet Journal of Rare Diseases, a medical journal. </p>.<p>The study shows that haematologic disorders, including thalassemia, top the list followed by inborn metabolism disorders and neurological disorders in newborns. </p>.<p>The study compiled prenatal samples from 2008 to 2022. These samples were from individuals identified as being at high risk for rare genetic disorders based on family history, previous affected children and abnormal ultrasound findings. With growing awareness of genetic disorders, universal newborn screening has increased in Bengaluru even in the absence of a government facility to conduct the screening. </p>.<p>Dr Parimala V Thirumalesh, lead senior consultant - neonatology and paediatrics, said, “Some of the most-detected genetic and inherited disorders include thalassemia, congenital hypothyroidism, glucose-6-phosphate dehydrogenase (G6PD) deficiency, sickle cell disease, cystic fibrosis and spinal muscular atrophy (SMA). Metabolic disorders such as phenylketonuria and congenital adrenal hyperplasia are also identified through newborn screening.”</p>.<p>Newborn screening helps in early diagnosis and early interventions, reduces complications and improves child’s long-term quality of life. </p>.<p>Stressing the importance of early detection, Dr Bhavana Girish, IVF specialist, said, “Early detection in genetic and metabolic disorders is extremely important as symptoms are absent at birth, and by the time they become symptomatic, irreversible damage to the brain, liver and heart may have already happened. If detected before symptoms appear, we can manage these conditions with timely intervention”. </p>.<p class="CrossHead">Genetic testing for embryos </p>.<p>Couples choosing In-Vitro Fertilisation (IVF) also rely on Preimplantation Genetic Testing (PGT), which provides genetic insights of the embryos that will be transferred to the woman’s uterus. </p>.<p>Doctors conduct two kinds of tests on the embryos: PGT-A, which tests for Down’s syndrome and other similar disorders and PGT-M tests for inherited disorders like thalassemia. </p>.<p>Dr Rubina Pandit, fertility specialist, said, “The testing is typically performed around the fifth day after fertilisation during IVF. The embryo at this stage contains approximately 100 to 200 cells. Scientists remove a small number of cells from the trophectoderm, which will develop into the placenta while they keep the inner cell mass intact because it will develop into the foetus.” </p>.<p>She said improved biopsy techniques have reduced harm to embryos and IVF centres now commonly freeze embryos after biopsy until the genetic results are available, after which suitable embryos are transferred.</p>
