Genetic Disorders: How to Prevent Recurrence?

The genetic disease can be tested before the birth of the baby and birth of an affected child prevented if we make a confirmed diagnosis of a condition based on clinical 

features and genetic testing in the affected child. For this prior consultation with a genetics expert preferably before pregnancy or early in pregnancy is a must so that there is 

sufficient time to make a confirmed diagnosis in affected child if not done already.Gross malformations in the fetus can be detected with help of high-resolution ultrasonography (USG) performed by an expert radiologist or obstetrician or fetal medicine expert.

 For others like chromosomal or disorders due to defects in genes, a genetic testing has to be performed before 20 weeks of pregnancy by taking a fetal sample and the 

fetus may be medically terminated, if found to be affected by an incurable or life-limiting disorder, if the parents desire. The whole process requires extensive pre- and posttest genetic counseling. The testing should be completed before 20 weeks as the legal limit for medical termination presently in India is 20 weeks.