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Expanded Prenatal Genetic and Newborn Screening: One Family's Wild Ride.

Abstract

The exponential rate at which genetic testing has been integrated into routine and high-risk obstetric care has been exciting to watch. With this technical explosion, however, the knowledge surrounding the benefits and limitations of prenatal genetic and newborn screening can be overlooked by both parents and providers. The following case exemplifies how a couple with infertility who underwent comprehensive prenatal expanded genetic carrier screening and parental karyotype experienced the benefits and limitations of such testing. It guides the reader through diagnostic testing for an infant, born to a father with a balanced translocation, who presented with an abnormal newborn screening result for an inherited metabolic disorder of fatty acid oxidation metabolism, very-long-chain acyl-coenzyme dehydrogenase deficiency, for which the prenatal expanded carrier screening result was negative.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31248636

Citation

Anderson, Sharon, and Christina Botti. "Expanded Prenatal Genetic and Newborn Screening: One Family's Wild Ride." Journal of Pediatric Health Care : Official Publication of National Association of Pediatric Nurse Associates & Practitioners, 2019.
Anderson S, Botti C. Expanded Prenatal Genetic and Newborn Screening: One Family's Wild Ride. J Pediatr Health Care. 2019.
Anderson, S., & Botti, C. (2019). Expanded Prenatal Genetic and Newborn Screening: One Family's Wild Ride. Journal of Pediatric Health Care : Official Publication of National Association of Pediatric Nurse Associates & Practitioners, doi:10.1016/j.pedhc.2019.03.001.
Anderson S, Botti C. Expanded Prenatal Genetic and Newborn Screening: One Family's Wild Ride. J Pediatr Health Care. 2019 Jun 24; PubMed PMID: 31248636.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Expanded Prenatal Genetic and Newborn Screening: One Family's Wild Ride. AU - Anderson,Sharon, AU - Botti,Christina, Y1 - 2019/06/24/ PY - 2019/01/02/received PY - 2019/03/02/revised PY - 2019/03/18/accepted PY - 2019/6/29/entrez PY - 2019/6/30/pubmed PY - 2019/6/30/medline KW - VLCAD KW - Very-long-chain acyl CoA dehydrogenase KW - genetic screening KW - genetic translocation KW - prenatal diagnosis JF - Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners JO - J Pediatr Health Care N2 - The exponential rate at which genetic testing has been integrated into routine and high-risk obstetric care has been exciting to watch. With this technical explosion, however, the knowledge surrounding the benefits and limitations of prenatal genetic and newborn screening can be overlooked by both parents and providers. The following case exemplifies how a couple with infertility who underwent comprehensive prenatal expanded genetic carrier screening and parental karyotype experienced the benefits and limitations of such testing. It guides the reader through diagnostic testing for an infant, born to a father with a balanced translocation, who presented with an abnormal newborn screening result for an inherited metabolic disorder of fatty acid oxidation metabolism, very-long-chain acyl-coenzyme dehydrogenase deficiency, for which the prenatal expanded carrier screening result was negative. SN - 1532-656X UR - https://www.unboundmedicine.com/medline/citation/31248636/Expanded_Prenatal_Genetic_and_Newborn_Screening:_One_Family's_Wild_Ride L2 - https://linkinghub.elsevier.com/retrieve/pii/S0891-5245(19)30002-1 DB - PRIME DP - Unbound Medicine ER -