414: Fetuses with suspected cystic hygroma and nuchal translucency < 3.5mm have increased risk of abnormal outcomes

In some countries, measurement of nuchal translucency (NT) is incorporated into national antenatal screening programmes to help detect pregnancies at increased risk of Down syndrome. Accurate measurement of the NT requires a specific technique. This article is an illustrated practical guide outlining the steps required for measuring the NT; it provides useful tips for improving operator technique and advises how to avoid common pitfalls. Although fetal nasal bone assessment does not currently form part of official Down syndrome screening programmes (in Australia or the UK), it is included here as debate about its usefulness continues.

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INCREASED NUCHAL TRANSLUCENCY IN A FETUS WITH A NORMAL KARYOTYPE: CASE REPORT

Romanian Journal of Clinical Research ◽

10.33695/rjcr.v2i1.24 ◽

2019 ◽

Vol 2 (1) ◽

pp. 59-61

Author(s):

Cristina Moisei ◽

Anca Lesnica ◽

Romina Marina Sima ◽

Liana Pleș

Keyword(s):

Chorionic Villus ◽

Normal Karyotype ◽

First Trimester ◽

Nuchal Translucency ◽

Trisomy 18 ◽

Trisomy 13 ◽

Chorionic Villus Sampling ◽

Increased Risk ◽

First Trimester Ultrasound ◽

Increased Nuchal Translucency

Nuchal translucency (NT) is the normal fluid filled subcutaneous space measured at the back of the fetal neck measured in the late first trimester and early second trimester. Nuchal translucency screening can detect approximately 80% of fetuses with Down syndrome and other major aneuploidies with a rate of 5% of false positive results, but the merger of the NT screening with β-hCG and PAPP-A testing increases the detection rate to 90%. We present the case of a fetus with a NT of 49 mm detected at the first trimester ultrasound morphologic exam. The Kryptor test revealed a 1:35 risk for Trisomy 13 and 1:721 for Trisomy 18. We report the case of an investigated pregnancy with a NT of 49 mm detected at the first trimester ultrasound exam, with a risk of 1:35 for Trisomy 13 and 1:721 for Trisomy 18 calculated at the Kryptor test. A chorionic villus sampling was recommended and performed with a result of 46XY normal karyotype. The particularity of this case is represented by the increased nuchal translucency as well as an increased risk for trisomy 13 and 18 in a normal karyotype fetus that had a normal development in the second and third trimester with no pregnancy complications arising.

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P10.21: Karyotype and outcome of 43 fetuses diagnosed in the first trimester with cystic hygroma in relation with nuchal translucency measurement

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.1517 ◽

2004 ◽

Vol 24 (3) ◽

pp. 326-326

Author(s):

R. Kharrat ◽

M. Yamamoto ◽

S. Couderc ◽

Y. Ville

Keyword(s):

First Trimester ◽

Nuchal Translucency ◽

Cystic Hygroma ◽

Nuchal Translucency Measurement

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415: Thicker nuchal translucency is associated with greater risk of abnormal fetal and neonatal outcomes among fetuses with first trimester cystic hygroma

American Journal of Obstetrics and Gynecology ◽

10.1016/j.ajog.2010.10.434 ◽

2011 ◽

Vol 204 (1) ◽

pp. S168

Author(s):

Jessica Scholl ◽

Chitra Iyer ◽

Asha Heard ◽

Jaclyn Coletta ◽

Britta Panda ◽

...

Keyword(s):

First Trimester ◽

Nuchal Translucency ◽

Cystic Hygroma ◽

Neonatal Outcomes

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330: A cystic hygroma increases the risk of abnormalities among 397 women diagnosed with a thickened nuchal translucency

American Journal of Obstetrics and Gynecology ◽

10.1016/j.ajog.2010.10.348 ◽

2011 ◽

Vol 204 (1) ◽

pp. S136

Author(s):

Asha Heard ◽

Chitra Iyer ◽

Adam Wolfberg ◽

Jaclyn Coletta ◽

Britta Panda ◽

...

Keyword(s):

Nuchal Translucency ◽

Cystic Hygroma

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Diagnostic value of systematic ultrasonography for trisomy 18 syndrome in fetuses before 16 weeks gestation

10.21203/rs.3.rs-1139778/v1 ◽

2021 ◽

Author(s):

Jie Zhou ◽

Xiaohui Dai ◽

Hanmin Liu ◽

Yiping Li ◽

Ling Luo ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Birth Rate ◽

Nuchal Translucency ◽

Diagnostic Value ◽

Cystic Hygroma ◽

Trisomy 18 ◽

Ductus Venosus ◽

Research Subjects ◽

Fetal Ultrasonography ◽

Cardiac Defects

Abstract Purpose To explore the diagnostic value of systematic fetal ultrasonography for trisomy 18 (T18) syndrome before 16 weeks gestation. Methods A total of 12 fetuses with T18 were selected as research subjects and their nuchal translucency (NT) screening and fetal systematic ultrasonographic images acquired at 11–15 weeks were retrospectively analyzed. Results In the 12 fetuses’ NT screening, ten fetuses showed NT thickening, one showed nuchal cystic hygroma, four showed reversed a-wave ductus venosus flow, and three showed omphalocele. The most common anomalies on the systematic ultrasonography before 16 weeks gestation were cardiac defects (12/12, 100%), omphalocele (4/12, 33.3%), limb anomalies (5/12, 41.7%), and facial anomalies (3/12, 25.0%). Seven of the 12 fetuses had multiple structural malformations: three had two structural malformations (25.0%), three had three structural malformations (25.0%), and one had four structural malformations (8.3%). Conclusion Systematic fetal ultrasonography before 16 weeks gestation can detect most of the structural malformations of T18, effectively shortening the prenatal diagnosis time. It is therefore of great importance for reducing the birth rate of children with T18 and minimizing the physical and mental damage to mothers and their families.

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EARLY FETAL HYDROPIC CHANGES ARE ASSOCIATED WITH MODERATE DILATATION OF THE BRAIN VENTRICULAR SYSTEM: A CLUE TO A POSSIBLE LINK BETWEEN CERVICAL LYMPHATIC ENGORGEMENT AND VENTRICULAR DILATATION?

Lymphology ◽

10.2458/lymph.4620 ◽

2019 ◽

Vol 52 (1) ◽

Author(s):

D Paladini ◽

G Donarini ◽

A Conti ◽

L Costanza De Angelis ◽

MH Witte ◽

...

Keyword(s):

Three Dimensional ◽

First Trimester ◽

Nuchal Translucency ◽

Cystic Hygroma ◽

Ventricular System ◽

Fetal Head ◽

Biparietal Diameter ◽

Inter Observer Variability ◽

Trimester Screening ◽

The One

The aim of this study is to assess whether early cervical lymphatic obstruction is associated with a sonographically detectable dilatation of the ventricular system in the 1st trimester of pregnancy. In particular, the objective is to assess whether fetuses with non-immune hydrops fetalis (NIHF), cystic hygroma, or enlarged nuchal translucency (NT) have a greater atrial width/biparietal diameter (AW/BPD) ratio than normal at time of the combined first trimester screening scan. This retrospective study included 96 first trimester fetuses (33 normal and 63 with various degree of cervical lymphatic engorgement). Inclusion criteria were CRL in the 45-84 mm range and availability of one or more three-dimensional volume datasets of the fetal head, acquired from the BPD plane. Each three-dimensional volume dataset was opened and multiplanar correlation employed to align the three orthogonal planes. The ratio between the atrial width and the BPD (AW/BPD ratio) was used to evaluate the possible presence of increased amount of cerebrospinal fluid. Abnormal cases were placed into 4 categories: 1)enlarged non-septated NT 2.5-3.9 mm, no hydrops; 2) grossly enlarged non-septated NT/ edema >3.9 mm; 3) cystic hygroma and/or NIHF; 4) major anomalies with NT <2.5 mm. Presence of dilatation of the latero-cervical jugular lymphatic sacs, karyotype and presence of congenital anomalies were also recorded. The One-way ANOVA test was used to compare means. Intra- and inter-observer variability were also assessed. The AW/BPD ratio was found to be significantly higher in fetuses with grossly enlarged NT/nuchal edema and NIHF/septated cystic hygroma than in normal (p <0.05 and p <0.01, respectively). Also, the AW/BPD ratio was significantly higher in NIHF/septated cystic hygroma than in enlarged NT 2.5-3.9 mm (p <0.05). In case of enlarged NT (2.5-3.9 mm), the AW/BPD ratio is significantly higher in presence of JLS (p <0.01). At the end of the first trimester, presence of cervical lymphatic engorgement, in terms of grossly enlarged NT, nuchaledema, septated cystic hygroma, and NIHF, is statistically associated with a moderate dilatation of the ventricular system. Of note, among fetuses with moderately enlarged NT, those with evidence of dilatation of the JLS show a statistically significant increase in the AW/BPD ratio.

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Nuchal translucency and the heart

10.1093/med/9780199230709.003.0019 ◽

2011 ◽

Author(s):

Nick Archer ◽

Nicky Manning

Keyword(s):

Chromosomal Abnormality ◽

Nuchal Translucency ◽

Posterior Aspect ◽

Increased Risk ◽

Fetal Karyotype

Introduction 264The nuchal scan 266Management 268Nuchal translucency describes sonolucent tissue in the posterior aspect of the fetal neck; the size can be measured with accuracy during the 1st trimester of pregnancy and an increase in the measurement is associated with an increased risk of chromosomal abnormality. If fetal karyotype is normal: ...

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