Nuchal translucency and major congenital heart defects in fetuses with normal karyotype: a meta‐analysis

Sotiriadis, Alexandros; Papatheodorou, Stefania; Eleftheriades, Makarios; Makrydimas, George

doi:10.1002/uog.12488

Cited by 73 publications

(66 citation statements)

References 40 publications

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“…1,4,13,14 To our knowledge, this article is the first practical description of a straightforward and direct screening method for congenital heart defects in the first trimester. In this study we found that our simple firsttrimester cardiac protocol was an effective screening method for congenital heart defects.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Detection of Congenital Heart Defects at the 11‐ to 13‐Week Scan Using a Simple Color Doppler Protocol Including the 4‐Chamber and 3‐Vessel and Trachea Views

Wiechec

Knafel

Nocun

2015

J of Ultrasound Medicine

104

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n the past years, plenty of reports about indirect screening methods for the diagnosis of congenital heart defects were published. They were based on markers of aneuploidy, including nuchal translucency, triuspid regurgitation, and ductus venosus velocimetric parameters. [1][2][3][4] However, the detection rates for congenital heart defects do not exceed 40% for nuchal translucency above the 95th percentile alone and 58% for nuchal translucency above the same limit combined with a reversed or absent a-wave in the ductus venosus flow profile. 1 Objectives-The first goal of this study was to analyze the diagnostic performance of the 4-chamber view, 3-vessel and trachea view, and their combination in color mapping during early cardiac evaluations for selecting cases suspicious of congenital heart defects. The second goal was to describe the most common abnormal flow patterns at the levels of the 4-chamber and 3-vessel and trachea views in the late first trimester.Methods-We conducted a prospective observational study in which a simple cardiac sonographic protocol was applied in fetuses at gestational ages of 11 weeks to 13 weeks 6 days.Results-A total of 1084 patients with known postnatal or autopsy findings were included in the study. The median maternal age was 32.3 years (range, 27-40 years). The median crown-rump length was 62.2 mm (range, 45-84 mm). Overall, there were 35 cases with a confirmed congenital heart defect (3.22%), including 16 accompanied by aneuploidy. We found that our simple first-trimester cardiac protocol was an effective screening method for congenital heart defects. The most effective approach of the 3 evaluated by us was the combined application of the 4-chamber and 3-vessel and trachea views in color mapping compared to the 4-chamber and 3-vessel and trachea views alone. We defined the most common ventricular inflow patterns and the V sign. The technique we used was simple and easy to reproduce.Conclusions-We confirmed that evaluation by two basic cardiac views allows for selection of most cases with a univentricular heart, atrioventricular septal defects, coarctation of the aorta, pulmonary stenosis, pulmonary atresia, and conotruncal defects.

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Section: Discussionmentioning

confidence: 99%

Prenatal Detection of Congenital Heart Defects at the 11‐ to 13‐Week Scan Using a Simple Color Doppler Protocol Including the 4‐Chamber and 3‐Vessel and Trachea Views

Wiechec

Knafel

Nocun

2015

J of Ultrasound Medicine

104

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“…Enlarged NT may be present in cases of chromosomal pathologies [Kagan et al, 2008] as well as cardiac anomalies [Hyett et al, 1996;Sotiriadis et al, 2013] and certain genetic syndromes, especially Noonan syndrome [Pergament et al, 2011]. In 2009, Li and McDonald noted increased NT in the first-trimester scan of the fetus, which later was diagnosed with SGB syndrome.…”

Section: Discussionmentioning

confidence: 99%

Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases

et al. 2018

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Fetal overgrowth and numerous congenital malformations can be detected in every trimester of pregnancy. New technologies in molecular testing, such as chromosomal microarray analysis and next-generation sequencing, continually demonstrate advantages for definitive diagnosis in fetal life. Simpson-Golabi-Behmel (SGB) syndrome is a rare but well-known overgrowth condition that is rarely diagnosed in the prenatal setting. We report 3 cases of SGB syndrome in 2 consecutive pregnancies. In our series, distinctive prenatal sonographic findings led to molecular diagnosis. Exome sequencing from fetal DNA revealed a hemizygous splice site variant in the GPC3 gene: NM_004484.3:c.1166+ 1G>T. The mother is a heterozygous carrier. We also provide an overview of the previously published 57 prenatal cases of SGB syndrome with prevalence estimation of the symptoms to aid prenatal differential diagnosis of fetal overgrowth syndromes.

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“…International Society of Ultrasound in Obstetrics and Gynecology anbefaler i sine siste retningslinjer fra mars 2013 bruk av fargedoppler ved ultralydundersøkelsen av fosterhjertet (11). Studier viser at ultralydundersøkelse rundt uke 12 i svangerskapet har potensial til å påvise opp mot 45 % av alvorlige hjertefeil hos foster med normale kromosomer og nakkeoppklaring over 95-prosentilen (12).…”

Section: Prenatal Diagnostikkunclassified

Kritiske hjertefeil hos nyfødte overses

Postmyr¹,

Tegnander²,

Meberg³

2014

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Nuchal translucency and major congenital heart defects in fetuses with normal karyotype: a meta‐analysis

Abstract: Objective To pool published data regarding the sensitivity and specificity of nuchal translucency (NT)

Cited by 73 publications

References 40 publications

Prenatal Detection of Congenital Heart Defects at the 11‐ to 13‐Week Scan Using a Simple Color Doppler Protocol Including the 4‐Chamber and 3‐Vessel and Trachea Views

Prenatal Detection of Congenital Heart Defects at the 11‐ to 13‐Week Scan Using a Simple Color Doppler Protocol Including the 4‐Chamber and 3‐Vessel and Trachea Views

Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases

Kritiske hjertefeil hos nyfødte overses

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