Life Sciences | 2021
Prenatal Diagnosis of Birth Defects by Exome Sequencing
Abstract
prenatal ultrasound and then confirmed by molecular testing. However, the most effective prenatal screening methods were those that were used for screening of Down syndrome by maternal serum and ultrasound markers. Prenatal diagnosis by using techniques like karyotyping, Polymerase Chain Reaction (PCR) and more recently chromosomal microarray are being used for the detection of 2 underlying genetic defects. Monogenic disorders are diagnosed by sequencing particular those genes associated with that disease. However, these approaches are not always effective and many cases remain undiagnosed. In high risk pregnancy, if a genetic test confirms a lethal anomaly or a condition that causes lifelong disability, parents can choose to 3 terminate a pregnancy. If the disease is hereditary in nature, accurate diagnosis is also useful to access the risk of recurrence in a future pregnancy. High throughput genomic sequencing especially whole exome sequencing (WES) is a likely solution to this problem in the present scenario. It has been Introduction Birth defects or congenital malformations are anomalies which originate during the developmental period and present at birth due to environmental or genetic insults. They are a serious public health issue globally, however, their prevalence is particularly high in low-income countries. It is estimated that each year 4-6% of the newborns have some kind of genetic birth defects globally, early diagnosis of such disorders is critical for timely management and in 1 some cases for treatment. Prenatal screening and diagnosis should be present in every antenatal unit. Many structural birth defects can be detected by Prenatal Diagnosis of Birth Defects by Exome Sequencing Sara Mumtaz, Huma Shehwana, Sabba Mehmood