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Article: Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities

TitlePrenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in <i>SMAD4</i> gene presented with thick nuchal translucency and cardiac abnormalities
Authors
Issue Date2-Aug-2023
PublisherWiley
Citation
Prenatal Diagnosis, 2023 How to Cite?
Abstract

Prenatal testing was performed in a 39-year-old Chinese pregnant woman referred for increased nuchal translucency measuring 5.7 mm. Non-invasive prenatal testing and SNP array study on amniotic fluid samples were normal. Whole exome sequencing (WES) was initiated further as the fetus had pericardial effusion of 1.2 mm, thickened myocardium over the right ventricular lateral wall and aberrant right subclavian artery. A detailed fetal echocardiogram also revealed persistent left superior vena cava and dilated coronary sinus at 20 weeks. From whole exome sequencing of the trio, a de novo heterozygous variant NM_005359.5(SMAD4): c.1499T>C (p.Ile500Thr) was detected. This pathogenic variant has been reported in the postnatal case cohort of Myhre syndrome. This condition is characterized by facial dysmorphism, intellectual disability, hearing loss, skeletal abnormalities and potential life threatening respiratory or cardiovascular manifestations. Termination of pregnancy was performed at 23 weeks. Small chins, pre-axial polydactyly, brachydactyly and clinodactyly were noted in the abortus. Ultrasound findings of increased nuchal translucency, thickened myocardium and pericardial effusion prompted further genetic evaluation for the prenatal diagnosis of Myhre syndrome by whole exome sequencing.


Persistent Identifierhttp://hdl.handle.net/10722/331152
ISSN
2023 Impact Factor: 2.7
2023 SCImago Journal Rankings: 0.986
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorHui, PW-
dc.contributor.authorMok, YK-
dc.contributor.authorLuk, HM-
dc.contributor.authorAu, SLK-
dc.contributor.authorLau, EYT-
dc.contributor.authorChung, B-
dc.contributor.authorKan, ASY-
dc.date.accessioned2023-09-21T06:53:11Z-
dc.date.available2023-09-21T06:53:11Z-
dc.date.issued2023-08-02-
dc.identifier.citationPrenatal Diagnosis, 2023-
dc.identifier.issn0197-3851-
dc.identifier.urihttp://hdl.handle.net/10722/331152-
dc.description.abstract<p></p><p>Prenatal testing was performed in a 39-year-old Chinese pregnant woman referred for increased nuchal translucency measuring 5.7 mm. Non-invasive prenatal testing and SNP array study on amniotic fluid samples were normal. Whole exome sequencing (WES) was initiated further as the fetus had pericardial effusion of 1.2 mm, thickened myocardium over the right ventricular lateral wall and aberrant right subclavian artery. A detailed fetal echocardiogram also revealed persistent left superior vena cava and dilated coronary sinus at 20 weeks. From whole exome sequencing of the trio, a de novo heterozygous variant NM_005359.5(SMAD4): c.1499T>C (p.Ile500Thr) was detected. This pathogenic variant has been reported in the postnatal case cohort of Myhre syndrome. This condition is characterized by facial dysmorphism, intellectual disability, hearing loss, skeletal abnormalities and potential life threatening respiratory or cardiovascular manifestations. Termination of pregnancy was performed at 23 weeks. Small chins, pre-axial polydactyly, brachydactyly and clinodactyly were noted in the abortus. Ultrasound findings of increased nuchal translucency, thickened myocardium and pericardial effusion prompted further genetic evaluation for the prenatal diagnosis of Myhre syndrome by whole exome sequencing.<br></p>-
dc.languageeng-
dc.publisherWiley-
dc.relation.ispartofPrenatal Diagnosis-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.titlePrenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in <i>SMAD4</i> gene presented with thick nuchal translucency and cardiac abnormalities-
dc.typeArticle-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1002/pd.6414-
dc.identifier.scopuseid_2-s2.0-85166621144-
dc.identifier.eissn1097-0223-
dc.identifier.isiWOS:001039032300001-
dc.identifier.issnl0197-3851-

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