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Prenatal Genetics for Women with Neurology Disease: Pregnancy, Preimplantation, and Newborn Screening 

Prenatal Genetics for Women with Neurology Disease: Pregnancy, Preimplantation, and Newborn Screening
Chapter:
Prenatal Genetics for Women with Neurology Disease: Pregnancy, Preimplantation, and Newborn Screening
Author(s):

Stephanie Dukhovny

DOI:
10.1093/med/9780190667351.003.0006
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date: 07 April 2020

The genetic evaluation of heritability of genetic disease, as well as screening of the fetus for neurologic diseases, have evolved a great deal since the 1970s. Screening and diagnostic evaluation now includes the ability to detect fetuses with anatomic abnormalities of the central nervous system and rare autosomal recessive disorders with neurologic features. Preimplantation genetic diagnosis now allows families with confirmed genetic abnormalities to utilize in vitro fertilization technologies to avoid affected pregnancies. For families that have not received a prenatal diagnosis, newborn screening allows for detection of diseases with potential neurologic implications in the child’s early newborn period.

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