Relation Between Increased Fetal Nuchal Translucency Thickness and Chromosomal Defects

Kagan, Karl Oliver; Avgidou, K.; Molina, Francisca S.; Gajewska, Katarzyna; Nicolaides, Kypros H.

doi:10.1097/01.aog.0000191301.63871.c6

Cited by 148 publications

(108 citation statements)

References 23 publications

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“…The frequencies of chromosomal abnormalities in cases with increased NT varies in reports by different authors, but it was 19.2% and 16.2%, respectively, in one study of 11,315 cases (Kagan et al 2006) and one of 1,015 cases (Pandya et al 1995), and our study results were also similar. Indeed, the frequency of accompanying chromosomal abnormalities is high in cases with increased NT, but conversely, 81% of the cases with increased NT demonstrate a normal karyotype.…”

Section: Discussionsupporting

confidence: 81%

Does increased nuchal translucency indicate a fetal abnormality? A retrospective study to clarify the clinical significance of nuchal translucency in Japan

et al. 2008

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The results of a chromosomal test by genetic amniocentesis in 58 cases with an increased nuchal translucency (NT; C3 mm thickness) revealed 47 cases showing a normal karyotype (81%) and 11 cases (19%) showing an abnormal karyotype. However, the cases of a normal karyotype with increased NT also included those with fetal abnormalities. Among the 49 cases in which NT was observed during the first trimester and then subsequently disappeared, chromosomal abnormalities were observed in five, and fetal abnormalities other than chromosomal abnormalities were observed in two. Meanwhile, all nine cases in which an increased NT remained or in which NT continued to increase in size during the second trimester were diagnosed as having cystic hygroma, and chromosomal abnormalities were found in six cases (67%). It should be noted that the shape of increased NT includes NT with a notch (notched NT) and NT without a notch (smooth NT). Among the 20 cases of notched NT, chromosomal abnormalities were observed in eight (40%), and cystic hygroma was observed in nine (45%). On the other hand, among the 38 cases of smooth NT, chromosomal abnormalities were observed in three (7.9%), but no cystic hygroma was observed. Our results confirm that increased NT does not always indicate a fetal abnormality. Whether NT thickness should be measured as a screening tool for fetal abnormalities remains controversial. However, increased NT may be detected by chance, because a maternal-fetal medical examination using ultrasonography is usually performed in Japan. It is therefore considered to be extremely important to establish a system in which cases are referred to obstetricians who are licensed clinical genetic specialists to obtain appropriate genetic counseling whenever increased NT is clinically observed.

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Section: Discussionsupporting

confidence: 81%

Does increased nuchal translucency indicate a fetal abnormality? A retrospective study to clarify the clinical significance of nuchal translucency in Japan

et al. 2008

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“…It was the work of Nicolaides and colleagues who initially discovered the link between chromosomal anomalies and increased nuchal translucency in the late first trimester [63] and subsequently realized that in the absence of chromosomal anomalies, there was still a higher risk of fetal heart disease [64,65]. These initial observations have been further corroborated by the experience of many other groups who have defined risk of 10-25% for fetal heart disease in the presence of increased nuchal translucency (>99 th centile) with exponentially increased risk occurring with larger nuchal translucency measures [66][67][68][69][70]. Although the increase in nuchal translucency was initially thought to be due to myocardial dysfunction and heart failure, increased nuchal translucency is currently attributed to abnormalities of the fetal lymphatics [71,72].…”

Section: First Trimester Fetal Echocardiographymentioning

confidence: 88%

Fetal Echocardiography and Prenatal Cardiovascular Interventions – An Update (2012)

Hornberger

Moon‐Grady²,

Tworetzky³

2012

J Clin Exp Cardiolog

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Fetal echocardiography has evolved considerably over the past 1-2 decades into an exciting field that bridges maternal-fetal medicine with neonatology and pediatric cardiology. With significant advances in imaging technology and experience in prenatal diagnosis, details of the cardiac pathology can now be defined much as it is postnatally; however, unique aspects of the fetal circulation limit our ability to consistently define lesion severity and to predict the evolution of cardiac defects after birth. Serial assessment has provided an understanding of the antenatal natural history of fetal heart disease, which has led to improved counseling and perinatal/neonatal management strategies. More recently, this field has focused on improving our evaluation of fetal arrhythmias, exploring the pathophysiology of fetal heart failure, detecting heart defects at earlier gestational ages, identifying novel interventions to alter the development and progression of severe disease, and investigating strategies to optimize prenatal and neonatal care in an effort to improve perinatal outcome of affected pregnancies. In this paper we will review the current state of the art of fetal/perinatal cardiology and the advances that have occurred in the field largely over the past decade.

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“…On bir-on üç 6/7 gebelik haftalarda yapılan ilk trimester kombine tarama testi riski yüksek olanlar, NT ≥2,5 mm, kistik higroma ve ebeveynlerde translokasyon taşıyı-cıları olarak. İlk trimesterde NT kalınlığının fetal kromozomal anomaliler ile birlikte olduğunu göste-ren çalışmalardan sonra (15,16) , anne yaşı ile birlikte NT kalınlığı kombine edildiğinde, %5 invaziv girişim hızı ile Down sendromlu gebeliklerin %77'sinin yakalanabileceği saptanmıştır (17) . Pandya ve ark.…”

Section: Discussionunclassified

“…(19) NT kalınlıklarına göre 186 fetusta yaptıkları çalışmada, NT ≥95 persantil olanların %19,8'inde, anormal karyotip ve 2,5-3,4 mm arası NT olanların dokuzunda yapısal anomali belirlediler. NT >3,5 mm saptandığında mutlaka bir tanısal test yapılmalıdır (17) . Kistik higroma, NT kalınlığından artma olarak tanımlanmıştır (20) , kistik higromaların %75'inde kromozomal anomali saptanırken, bunların %95'ine Turner sendromu eşlik etmektedir (21) .…”

Section: Discussionunclassified

Results And Experience Of In Our Clinic: Three Year Analysis

Öztaş¹,

Özler²,

Bakir³

et al. 2016

IKSST

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Relation Between Increased Fetal Nuchal Translucency Thickness and Chromosomal Defects

Abstract: II-3.

Cited by 148 publications

References 23 publications

Does increased nuchal translucency indicate a fetal abnormality? A retrospective study to clarify the clinical significance of nuchal translucency in Japan

Does increased nuchal translucency indicate a fetal abnormality? A retrospective study to clarify the clinical significance of nuchal translucency in Japan

Fetal Echocardiography and Prenatal Cardiovascular Interventions – An Update (2012)

Results And Experience Of In Our Clinic: Three Year Analysis

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