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Spinal Muscular Atrophy: Inheritance, Screening, and Counseling for the Obstetric Provider.

Publication ,  Journal Article
Hopkins, MK; Dugoff, L; Kuller, JA
Published in: Obstet Gynecol Surv
March 2021

IMPORTANCE: Spinal muscular atrophy (SMA) confers significant risk of neonatal and infant morbidity and mortality. Screening women during or before pregnancy for carrier status of SMA presents an opportunity to identify pregnancies at risk for this potentially devastating condition. OBJECTIVE: The objective of this review is to describe the different forms of SMA and their inheritance. In addition, this review guides obstetric providers in interpreting results of carrier screening. EVIDENCE ACQUISITION: A MEDLINE search of "prenatal genetic testing," "spinal muscular atrophy," and "inheritance of spinal muscular atrophy" in the review was performed. RESULTS: The evidence cited in this review includes 4 medical society committee opinions and 14 additional peer-reviewed journal articles that were original research or expert opinion summaries. CONCLUSIONS AND RELEVANCE: Spinal muscular atrophy is a severe, heterogeneous neurodegenerative disorder. The American College of Obstetricians and Gynecologists recommends that obstetricians offer carrier screening for SMA to all pregnant women. Given the different types and inheritance of SMA, understanding of the disease and interpreting carrier screening results is of paramount importance to the prenatal care provider.

Duke Scholars

Published In

Obstet Gynecol Surv

DOI

EISSN

1533-9866

Publication Date

March 2021

Volume

76

Issue

3

Start / End Page

166 / 169

Location

United States

Related Subject Headings

  • Prenatal Care
  • Pregnancy
  • Obstetrics & Reproductive Medicine
  • Muscular Atrophy, Spinal
  • Mass Screening
  • Humans
  • Genetic Counseling
  • Genetic Carrier Screening
  • Female
  • 4204 Midwifery
 

Citation

APA
Chicago
ICMJE
MLA
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Hopkins, M. K., Dugoff, L., & Kuller, J. A. (2021). Spinal Muscular Atrophy: Inheritance, Screening, and Counseling for the Obstetric Provider. Obstet Gynecol Surv, 76(3), 166–169. https://doi.org/10.1097/OGX.0000000000000870
Hopkins, Maeve K., Lorraine Dugoff, and Jeffrey A. Kuller. “Spinal Muscular Atrophy: Inheritance, Screening, and Counseling for the Obstetric Provider.Obstet Gynecol Surv 76, no. 3 (March 2021): 166–69. https://doi.org/10.1097/OGX.0000000000000870.
Hopkins MK, Dugoff L, Kuller JA. Spinal Muscular Atrophy: Inheritance, Screening, and Counseling for the Obstetric Provider. Obstet Gynecol Surv. 2021 Mar;76(3):166–9.
Hopkins, Maeve K., et al. “Spinal Muscular Atrophy: Inheritance, Screening, and Counseling for the Obstetric Provider.Obstet Gynecol Surv, vol. 76, no. 3, Mar. 2021, pp. 166–69. Pubmed, doi:10.1097/OGX.0000000000000870.
Hopkins MK, Dugoff L, Kuller JA. Spinal Muscular Atrophy: Inheritance, Screening, and Counseling for the Obstetric Provider. Obstet Gynecol Surv. 2021 Mar;76(3):166–169.

Published In

Obstet Gynecol Surv

DOI

EISSN

1533-9866

Publication Date

March 2021

Volume

76

Issue

3

Start / End Page

166 / 169

Location

United States

Related Subject Headings

  • Prenatal Care
  • Pregnancy
  • Obstetrics & Reproductive Medicine
  • Muscular Atrophy, Spinal
  • Mass Screening
  • Humans
  • Genetic Counseling
  • Genetic Carrier Screening
  • Female
  • 4204 Midwifery