Birth defects constitute structural or functional defects affecting any part of the body, including metabolic disorders which are present from birth. These conditions ranging from mild to severe are not rare affecting 1 in 33 babies born in the United States each year translating into about 1,20,000 babies. Globally birth defects have been recognized as a major contributor to neonatal and infant morbidity and mortality. The scenario is no different in India having more than 1.7 million children born with birth defects every year. Implementing strategies for their prevention, early identification, and management is of utmost importance considering the impact it can have on our future generation. Studying the genomic alterations leading to these birth defects and identifying genes and pathways may help in designing targeted therapies opening up doors for the new field of Precision Medicine for Birth Defects.