Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number.

doi:10.3109/14767058.2011.636101

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Article

Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians - 1 Aug 2012

Parra Juan, Alias Laura, Also-Rallo Eva, Martínez-Hernández Rebeca, Senosiain Raquel, Medina Carmen, Alejos Obdulia, Rams Noelia, Amenedo María, Ormo Filomena, Jesús Barceló María, Calaf Joaquim, Baiget Montserrat, Bernal Sara, Tizzano Eduardo F

Abstract excerpt

OBJECTIVE: To study fetal nuchal translucency (NT) thickness as a possible early marker in fetuses at risk for severe spinal muscular atrophy (SMA). To investigate the significance of the survival motor neuron (SMN) 2 gene copy number in affected fetuses. METHODS: We performed 2D-ultrasound in 98 pregnancies at risk for SMA, all of which underwent prenatal molecular testing of the SMN1 gene. Crown-rump length...

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Identifiers

PMID: 22082206
DOI: 10.3109/14767058.2011.636101

Genes

SMN2
SMN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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