Nizam’s Institute of Medical Science and Center for DNA Fingerprinting and Diagnostics research on inherited genetic disorders revealed that morphological features like the fetus’s face could help doctors find genetic disorders during ultrasound scanning.
Medical experts have done post-mortem examinations of 102 fetuses. The Genome sequencing of these fetuses revealed that 44% have the mendelian (inherited genetic) disorder.
NIMS Additional Professor in the Department of Medical Genetics Dr Shagun Agarwal told TOI, “In around three per cent of cases, abnormalities in the fetus are found during ultrasound scanning. The patient will go for an abortion of pregnancy, and sometimes if there are defects like cleft lip and hole in the heart, they will continue the pregnancy and surgery is done after the birth. If it is a genetic disorder, it can be repeated in the following child also. We used advanced genetic testing called Exome Sequencing to know the phenotypes of Mendelian disorders by looking into the DNA of the fetuses. It can pick up minor defects as well. So we can guide those families better and prevent the same in the subsequent pregnancy.”
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