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The Journal of Maternal-Fetal & Neonatal Medicine Volume 35, 2022 - Issue 14
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Original Articles

Molecular testing strategies in the evaluation of fetal skeletal dysplasia

Angie C. Jelina Department of Gynecology and Obstetrics, Johns Hopkins School of Medicine, Baltimore, MD, USA;b Institute of Genomic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USACorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-1792-4029View further author information
ORCID Icon,
Karin Blakemorea Department of Gynecology and Obstetrics, Johns Hopkins School of Medicine, Baltimore, MD, USA;b Institute of Genomic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USAORCID Iconhttps://orcid.org/0000-0002-5419-4934View further author information
ORCID Icon,
Shannon Trebesa Department of Gynecology and Obstetrics, Johns Hopkins School of Medicine, Baltimore, MD, USAView further author information
,
Katelynn Sagasera Department of Gynecology and Obstetrics, Johns Hopkins School of Medicine, Baltimore, MD, USAView further author information
,
Katherine R. Forstera Department of Gynecology and Obstetrics, Johns Hopkins School of Medicine, Baltimore, MD, USAView further author information
,
Melissa Russoc Department of Obstetrics and Gynecology, Women and Infants Hospital of Rhode Island, Warren Alpert Medical School of Brown University, Providence, RI, USAView further author information
&
Julie Hoover-Fongb Institute of Genomic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA;d Department of Pediatrics, Johns Hopkins Medicine, Baltimore, MD, USAView further author information
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Pages 2788-2794 | Received 14 Feb 2020, Accepted 26 Jul 2020, Published online: 04 Aug 2020

References

  • Mortier GR, Cohn DH, Cormier-Daire V, et al. Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A. 2019;179(12):2393–2419.
  • Aitken GW, Cohen A, Verco PW. Osteogenesis imperfecta a case discovered in utero. J Fac Radiol. 1954;6(1):62–66.
  • Scheer K. Sonography as a routine obstetrical diagnostic procedure. J Clin Ultrasound. 1977;5(2):101–102.
  • Schramm T, Gloning KP, Minderer S, et al. Prenatal sonographic diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol. 2009;34(2):160–170.
  • Parilla BV, Leeth EA, Kambich MP, et al. Antenatal detection of skeletal dysplasias. J Ultrasound Med. 2003;22(3):255–258.
  • Forster KR, Hooper JE, Blakemore KJ, et al. Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high-density SNP array to map homozygosity and identify the gene. Am J Med Genet A. 2019;179(12):2490–2493.
  • Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 2009;11(2):127–133.
  • Bellur S, Jain M, Cuthbertson D, et al. Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta. Genet Med. 2016;18(6):570–576.

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