Expanded Carrier Screening (ECS)
This would help identify couples at risk of genetic disease, who can pass defective genes to their offspring. Normally this is done by screening the husband and wife or sperm/egg donors in case of couples undergoing IVF with egg or sperm donor. The expanded carrier screening consists of testing for a panel of 300 plus important genes responsible for monogenic disorders (sickle cell, thalassemia, cystic fibrosis etc.) using NGS technology along with PCR testing for fragile x syndrome and Muscular dystrophy (SMA + DMD). Those who are at risk, can be offered pre implantation genetic testing for monogenic disorders called PGT-M or prenatal testing using CVS/amniocentesis. Now a days many newly wed couples are undergoing this preventive test before planning for their first child, thus totally eliminating the risk of having a genetically affected child, in their life.
Generally speaking one can do Targeted screening for ethnic groups. General screening in preconception period may include Expanded carrier screening (mainly covering thalassemia & sickle cell) + Duechenne muscular dystrophy + spinal muscular atrophy + Fragile x syndrome + inherited defects of metabolism + CAH
