Use of fetal nuchal translucency in the first trimester to predict single‐gene disorders

Arigita, M.; Borrell, Antoni; Mula, Raquel; Sánchez, Aurora; Milá, Montserrat; Gratacós, Eduard

doi:10.1002/pd.2856

Cited by 3 publications

(3 citation statements)

References 12 publications

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“…Recently, our group reported results from the application of CMA and a Noonan syndrome gene panel in cases of persistently elevated NT among 226 fetuses with increased NT 4 . Apart from Noonan syndrome and other RASopathies, it is currently unclear whether increased NT is related to monogenic syndromes 5 .…”

Section: Introductionmentioning

confidence: 99%

Diagnostic yield of next‐generation sequencing in fetuses with isolated increased nuchal translucency: systematic review and meta‐analysis

Pauta

Martínez-Portilla

Borrell

2022

Ultrasound in Obstet & Gyne

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What are the novel findings of this work?This is the first systematic review of the existing evidence on the diagnostic yield of prenatal exome or genome sequencing (ES/GS) in fetuses with isolated increased nuchal translucency (NT). ES/GS provided a 4% incremental diagnostic yield in fetuses with isolated increased NT and a normal chromosomal microarray analysis (CMA) result. What are the clinical implications of this work?In fetuses with isolated increased NT, the incremental diagnostic yield of ES/GS over CMA is similar to the yield of CMA in cases with a normal karyotype. It is unclear whether a NT cut-off higher than 3.5 mm may be more useful in case selection for ES/GS.

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Section: Introductionmentioning

confidence: 99%

Diagnostic yield of next‐generation sequencing in fetuses with isolated increased nuchal translucency: systematic review and meta‐analysis

Pauta

Martínez-Portilla

Borrell

2022

Ultrasound in Obstet & Gyne

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“…IT represents the future 4th ventricle and its obliteration or reduction of its thickness is present in fetuses affected by OSB. This data is subject to ample discussion [3–5]. Recent studies show that the parameter, which best indicates the OSB risk, is the inversion of the thickness ratio between BS (brain stem) and brain stem to occipital bone distance (BSOB) BS/BSOB [6].…”

Section: Introductionmentioning

confidence: 99%

A Case of Enlarged Intracranial Translucency in a Fetus with Blake’s Pouch Cyst

Iuculano

Zoppi

Ibba

et al. 2014

Case Reports in Obstetrics and Gynecology

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“…Recently, the predictive value of increased NT for SDG was assessed in 196 selected pregnancies at risk. 26 All women were referred because of either maternal or paternal history of Mendelian disorder. The mutation was previously identified in one of the parents in most cases.…”

Section: Increased Nuchal Translucency and Single Gene Disordersmentioning

confidence: 99%

Clinical utility of nuchal translucency screening

Stefanović¹,

Äyräs²,

Eronen

et al. 2014

RRN

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The term nuchal translucency (NT) is used to describe the accumulation of fluid behind the fetal neck visible on ultrasound in the first trimester of pregnancy. In singleton and dichorionic twin pregnancies, increased NT thickness is associated with trisomy 21 and other aneuploidies, major fetal anomalies (especially congenital heart disease), and genetic syndromes. The pathophysiology and significance of increased or discordant NT in monochorionic twin pregnancies is more complex and is associated with twin-to-twin transfusion syndrome and other pregnancy complications due to monochorionicity. The long-term neurological outcome of euploid children without structural anomalies after increased fetal NT seems to be favorable. Proper counseling is essential in the screening process. Special attention should be paid to the assessment of NT screening quality control. Even in the era of arising possibilities for noninvasive fetal karyotype determination from maternal blood, the role of NT screening is far from over. The association of this phenomenon with aneuploidies is only one of its utilities in modern obstetrics.The first report of an increased nuchal thickness (nuchal fold) in fetuses with trisomy 21 during the second trimester was reported almost two decades ago. 1 This finding is still considered as the most prominent soft marker in the second trimester genetic sonogram. With the advanced ultrasound equipment and demand for an earlier screening for the aneuploidies, the correlate for nuchal fold (nuchal translucency, NT) during the first trimester was reported a few years later. 2 This novel observation eventually became the basis of a screening procedure that combined ultrasound markers and maternal age. 3 The ultrasonographic measurement of NT was proposed as a screening method of identifying fetuses at risk for various abnormalities, especially autosomal trisomies, major structural anomalies, or single gene disorders (SGD).NT is a transient subcutaneous fluid collection at the back of the fetal neck detectable by ultrasound at 10 to14 weeks of gestation. It is visible in virtually all fetuses at this gestational age which is determined by means of crown-rump length (CRL). 2,3 NT thickness increases with advancing gestational age. After 14 weeks of gestation it usually vanishes. 2-6 Normal range of NT measurement changes with gestational age and enlarged NT is variably defined in the literature using a fixed cut off (2.5, 3.0, or 3.5 mm), a cut off depending on the CRL measurement of the fetus Research and Reports in Neonatology downloaded from https://www.dovepress.com/ by 44.224.250.

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Use of fetal nuchal translucency in the first trimester to predict single‐gene disorders

Abstract: Not all single-gene disorders are associated with enlarged NT, therefore NT cannot be regarded as a generic marker for single-gene disorder but only for a limited number of these conditions.

Cited by 3 publications

References 12 publications

Diagnostic yield of next‐generation sequencing in fetuses with isolated increased nuchal translucency: systematic review and meta‐analysis

Diagnostic yield of next‐generation sequencing in fetuses with isolated increased nuchal translucency: systematic review and meta‐analysis

A Case of Enlarged Intracranial Translucency in a Fetus with Blake’s Pouch Cyst

Clinical utility of nuchal translucency screening

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