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Article

Microarray and RASopathy‐disorder testing in fetuses with increased nuchal translucency

22 May 2019

Abstract excerpt

OBJECTIVES: To determine the incidence of chromosomal abnormalities, submicroscopic chromosomal abnormalities and RASopathy-disorder (RD) pathogenic variants in a cohort of pregnancies with nuchal translucency thickness (NT) ≥ 3.5 mm, and to propose a clinical protocol for surveillance of this group of patients. METHODS: This was a retrospective chart review of patients referred to The Prenatal Diagnosis and...

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Share to Fetal and Pediatric Neurological Disorders
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PMID: 31115076
DOI: 10.1002/uog.20352

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