Since 2013, Columbia University physicians have taken a leading role in pioneering non-invasive prenatal screening, through expanded parental carrier screening for inherited disorders, and direct screening for chromosomal abnormalities.
The recently established Reproductive Precision Medicine Center develops and evaluates new genomic tests and treatments, and translates them into care. The information from these technologies allows individualized counseling and care. Columbia's Reproductive Precision Medicine Center is perfectly positioned to be a global leader in the development and implementation of these approaches.
Our patients represent a wide cross-section of both normal and abnormal human pregnancies, sometimes from the pre-implantation embryo to the end of pregnancy. Study of the genomic alterations leading to miscarriage, stillbirth, and birth defects has the potential to identify genes and pathways that are important in fetal development, and also gives us the opportunity to learn more about genetic pathways that are likely to have roles in disorders such as cancer. Columbia's Center for Prenatal Pediatrics is a nationally recognized resource for surgical fetal therapy of specific birth defects. In the future, as the genes leading to these defects are identified, medical and in-utero gene therapies may become possible.