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Changing trends in carrier screening for genetic disease in the United States
Author(s) -
Nazareth Shivani B.,
Lazarin Gabriel A.,
Goldberg James D.
Publication year - 2015
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4647
Subject(s) - genomic medicine , genetic testing , medicine , disease , ethnic group , prenatal diagnosis , genetic engineering , family medicine , intensive care medicine , pregnancy , pediatrics , political science , biology , genetics , pathology , fetus , computational biology , law , gene
Genetic disease is the leading cause of infant death in the United States, accounting for approximately 20% of annual infant mortality. Advances in genomic medicine and technological platforms have made possible low cost, pan‐ethnic expanded genetic screening that enables obstetric care providers to offer screening for over 100 recessive genetic diseases. However, the rapid integration of genomic medicine into routine obstetric practice has raised some concerns about the practical implementation of such testing. These changing trends in carrier screening, along with concerns and potential solutions, will be addressed. © 2015 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.