Nuchal Translucency Thickness in Euploid Fetuses: Is Two Millimeters Too Risky?

Fink, Miriam; Sheiner, Eyal; Sheizaf, Boaz; Hershkovitz, Reli; Bashiri, Asher; Mazor, Moshe; Wiznitzer, Arnon

doi:10.1055/s-0028-1103513

Cited by 4 publications

(5 citation statements)

References 26 publications

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“…normal fetuses posed a significant risk for adverse perinatal outcome. 21 A study conducted by Suoka et al also reported higher risk of adverse outcome when the fetus had persistent second trimester nuchal fold. These fetuses are also likely to develop hydrops and die in utero, 22 and the risk increases exponentially according to the nuchal translucency thickness.…”

Section: Resultsmentioning

confidence: 96%

Long-term Outcome of Pregnancies with Increased Nuchal Translucency and Normal Karyotype

Orosz¹,

Lukács²,

Szabó³

et al. 2009

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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The aim of this study was to examine the prevalence of major and minor anomalies according to the increase of NT thickness. Methods: This is a long-term retrospective study in which singleton gestations of euploid fetuses with increased NT were analyzed. NT measurement was performed in the first trimester examination according to the criteria of fetal medicine foundation (FMF) when the fetal crown-rump length (CRL) was 45 to 84 mm. The cases were followed up from 1 to 5 years postpartum to assess the presence of CHD and to point out other anomalies that could be associated with increased NT. Results: The outcome of 133 cases could be analysed out of 198 pregnancies of which in 55 cases some congenital anomalies (minor or major) were revealed up to the 5 years of life (prevalence of 41.4%). The prevalence of CHDs, including the defects of the great vessels, stood out among the others. In the group with NT between 95th and 99th centiles four cases with minor heart problems were identified (11.1%, 4/36). The rate of major cardiac defects proved to be 13.3% (6/45) in the group with NT between 3.5-4.4 mm, and 17.3% (9/52) in the group with NT > 4.5 mm. Among the 35 healthy children with various minor health problems not related to the presence of increased nuchal translucency there were 7 cases with hydrocele. In 3 of them it was associated with unilateral inguinal hernia but in 3 it was isolated and one was part of a complex malformation (The rate of other organ-specific anomalies did not prove to be significant). In the whole study population only thirteen cases (9.8%) ended up in intrauterine death, or arteficial abortion. Conclusion: The prevalence of major cardiac defects as well as other major anomalies increases with fetal nuchal thickness. Since the prevalence of CHD is 100 times higher in the population of fetuses with NT above 4.5 mm, specialist fetal echocardiography should be offered in the second trimester together with other follow-up investigations. Among the children without any major abnormalities, a high number of minor anomalies were revealed during the long-term follow-up. These anomalies do not have significant disadvantage to the quality of life, but some of them necessitates short or long-term medical treatment and this should also be leveled with the future parents. Despite the numerous investigations the exact etiology of increased NT remains unknown. The relatively high prevalence of hydrocele in the newborns in our material raises the question wheather it is related to the presence of NT in the fetal period because of abnormal lymphatic development or alterations in the extracellular matrix. Further long-term follow-up studies could probably contribute to find explanation on the etiology of increased NT in the first trimester. These data can be used when counseling parents of euploid fetuses with increased fetal NT.

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Section: Resultsmentioning

confidence: 96%

Long-term Outcome of Pregnancies with Increased Nuchal Translucency and Normal Karyotype

Orosz¹,

Lukács²,

Szabó³

et al. 2009

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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“…Of these, 214 were excluded, the primary reason being the inclusion of both miscarriages and stillbirths or neonatal deaths and stillbirths in the mortality outcome measure or stillbirth in a composite outcome measure (21%), which did not allow the predictive accuracy of tests for stillbirths alone to be calculated. Seventy‐one studies (50 cohort and 21 case–control studies), assessing a total of 16 single and five combined tests, met the inclusion criteria (see Figure S1). Box 1 lists the first‐trimester and second‐trimester tests to predict stillbirth in unselected pregnant women that were identified in the review.…”

Section: Resultsmentioning

confidence: 99%

“…A large cohort study reported an antepartum stillbirth prevalence of 3.5 per 1000 births . Thirty‐four studies provided predictive accuracy data on five fetoplacental peptides (18 on alphafetoprotein [ α ‐FP], 15 on human chorionic gonadotrophin [hCG], three on unconjugated estriol [uE 3 ], seven on pregnancy‐associated plasma protein A [PAPP‐A], and one on inhibin A); 19 on six ultrasound imaging‐related tests (seven on uterine artery Doppler velocimetry, four each on nuchal translucency and suboptimal fetal growth, two on echogenic bowel, and one each on short femur and ductus venosus); 12 on five combinations of tests (three on first‐trimester screening for Down syndrome, five on second‐trimester screening for Down syndrome, one on first‐ and second‐trimester sequential integrated screening for Down syndrome and three on multivariable prediction models,); four on thyroid function‐related tests; two each on maternal haemoglobin levels and 25‐hydroxyvitamin D serum levels; and one on cervicovaginal infection . Few studies reported estimates of the predictive accuracy for stillbirths according to the timing of death, gestational age at birth, presumed cause of death or associated medical/obstetric disorder .…”

Section: Resultsmentioning

confidence: 99%

First‐ and second‐trimester tests to predict stillbirth in unselected pregnant women: a systematic review and meta‐analysis

Conde-Agudelo

Bird

Kennedy

et al. 2014

BJOG

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Background Several biophysical and biochemical tests have been proposed to predict stillbirth but their predictive ability remains unclear.Objective To assess the accuracy of tests performed during the first and/or second trimester of pregnancy to predict stillbirth in unselected women with singleton, structurally and chromosomally normal fetuses through use of formal methods for systematic reviews and meta-analytic techniques.Search strategy Electronic databases, bibliographies and conference proceedings.Selection criteria Observational studies that evaluated the predictive accuracy for stillbirth of tests performed during the first two trimesters of pregnancy.Data collection and analysis Two reviewers selected studies, assessed risk of bias and extracted data. Summary receiver operating characteristic curves, pooled sensitivities, specificities and likelihood ratios (LRs) were generated. Data were synthesised separately for stillbirth as a sole category and for specific stillbirth categories.Main results Seventy-one studies, evaluating 16 single and five combined tests, met the inclusion criteria. A uterine artery pulsatility index >90th centile during the second trimester and low levels of pregnancy-associated plasma protein A (PAPP-A) during the first trimester had a moderate to high predictive accuracy for stillbirth related to placental abruption, small-for-gestational-age or pre-eclampsia (positive and negative LRs from 6.3 to 14.1, and from 0.1 to 0.4, respectively). All biophysical and biochemical tests assessed had a low predictive accuracy for stillbirth as a sole category.Conclusions Currently, there is no clinically useful first-trimester or second-trimester test to predict stillbirth as a sole category. Uterine artery pulsatility index and maternal serum PAPP-A levels appeared to be good predictors of stillbirth related to placental dysfunction disorders.Keywords Biomarker, meta-analysis, prediction, stillbirth, systematic review, test.

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“…Recently, Fink et al . indicated that fetal NT thickness of 2 mm or more posed a significant risk for adverse perinatal outcome (adjusted OR 14.3; 95% CI 1.8–35; P < 0.001) 39 . This showed that the fetal NT cut‐off point can vary greatly from 2 to 10 mm, depending on the chromosomal defect to be detected; with rates varying from 11 to 88% 2 …”

Section: Discussionmentioning

confidence: 98%

“…14 With cut-off point of 2.4 mm, we also found that the rate of trisomy 21 was three times higher than trisomy 18 (12/16 cases of trisomy 21 vs 4/7 cases of trisomy 18) as reported by Acacio et al 14 Recently, Fink et al indicated that fetal NT thickness of 2 mm or more posed a significant risk for adverse perinatal outcome (adjusted OR 14.3; 95% CI 1.8-35; P < 0.001). 39 This showed that the fetal NT cut-off point can vary greatly from 2 to 10 mm, depending on the chromosomal defect to be detected; with rates varying from 11 to 88%. 2 We conclude that an increased fetal NT of 2.4 mm corresponded to a suitable cut-off point for use in the existing screening program for detection of fetal abnormalities (especially trisomy 21) in the south of Vietnam.…”

Section: Discussionmentioning

confidence: 99%

Fetal nuchal translucency thickness in different cut‐off points for aneuploidy screening in the south of Vietnam

Tomai

Schaaps

Foidart

2011

J of Obstet and Gynaecol

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Aims: The purpose of this study was to define the most suitable cut-off point for fetal nuchal translucency thickness in a screening program for aneuploidy and trisomy 21 in the south of Vietnam. Material & Methods: Two thousand and five hundred cases of singleton pregnancies were followed prospectively from the first trimester to the delivery. The rate of aneuploidy was calculated by seeking a relationship to increased fetal nuchal translucency thickness then calculating the sensitivity and specificity of different cut-off points in thickness measurement to find the most suitable point for screening. Results:The prevalence of fetal abnormality was 1.5% (95% CI 1.1-2.1), and 1.2% (95% CI 0.8-1.7) of aneuploidy cases found and the commonest was trisomy 21. A cut-off point at 2.4 mm showed the highest level of sensitivity and specificity for the detection of aneuploidy (65.5 and 95.7%) and trisomy 21 (75.0 and 95.1%), with a false-positive rate of 4.3 and 4.9%, respectively. Conclusion:Using a cut-off point of nuchal translucency at 2.4 mm has potential for aneuploidy and trisomy 21 screening in the south of Vietnam.

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Nuchal Translucency Thickness in Euploid Fetuses: Is Two Millimeters Too Risky?

Cited by 4 publications

References 26 publications

Long-term Outcome of Pregnancies with Increased Nuchal Translucency and Normal Karyotype

Long-term Outcome of Pregnancies with Increased Nuchal Translucency and Normal Karyotype

First‐ and second‐trimester tests to predict stillbirth in unselected pregnant women: a systematic review and meta‐analysis

Fetal nuchal translucency thickness in different cut‐off points for aneuploidy screening in the south of Vietnam

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