Deciphering congenital anomalies for the next generation

Monica H Wojcik, Pankaj B Agrawal
Cold Spring Harbor Molecular Case Studies 2020 August 21
Congenital anomalies, or structural birth defects, are common in the population, with 2-3% of infants estimated to have at least one major congenital malformation and countless others with minor malformations of lesser cosmetic or medical importance. As congenital malformations are major drivers of morbidity and mortality, representing the leading cause of infant mortality in the United States, there is substantial interest in understanding the underlying etiologies - particularly if modifiable causes may be identified or pre- or postnatal treatments can be offered. Recent research has begun to elucidate the spectrum of monogenic Mendelian disorders that commonly result in birth defects, and newer techniques and approaches have revealed non-Mendelian genetic contributions as well. Environmental effects, including teratogenic exposures, continue to also be important contributors. Future research will aid in further understanding the genetic, genomic, and environmental interactions that result in congenital anomalies and ideally will lead to targeted therapies.

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