Outcome and early childhood follow‐up of chromosomally normal fetuses with increased nuchal translucency at 10–14 weeks' gestation

Vugt, J.M.G. van; Tinnemans, B. W. S.; Zalen‐Sprock, R. M. Van

doi:10.1046/j.1469-0705.1998.11060407.x

Cited by 70 publications

(58 citation statements)

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“…Most studies agree that the risk of chromosome abnormality increases with the thickness of NT [9,12,13]. Most authors have chosen a cut-off measurement of 3 mm [9,11,12,21]. However, Nadel et al [13] use a 4-mm cut-off value and report a much higher chromosome abnormality detection rate.…”

Section: Discussionmentioning

confidence: 99%

Pregnancy Outcome and Prognosisin Fetuses with Increased First-TrimesterNuchal Translucency

et al. 2001

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Objective: One of the concerns of prenatal diagnosis is to find sensitive markers to screen for chromosome abnormalities, such as serum assays or nuchal translucency (NT). This study reports our experience with NT measurement during the first trimester of pregnancy. Materials: The study was performed prospectively on 252 fetuses with either NT ≧3 mm or cystic hygroma. Results: We observed 50 abnormal karyotypes, i.e. 19.8%. The incidence of chromosome abnormalities increased with increasing maternal age and increasing NT thickness. For the 202 fetuses with normal karyotypes, outcome was unfavourable in 32 cases: 23 elective terminations of pregnancy, 8 spontaneous abortions and 1 neonatal death. Outcome was favourable in 141 cases. Twenty-nine pregnancies were lost to follow-up. Conclusion: Measurement of NT at 12 weeks’ gestation seems to be a good marker for chromosome abnormalities. When the karyotype is normal, the pregnancy outcome remains correlated with the degree of NT thickness. The finding of NT >3 mm between 10 and 14 weeks’ gestation dictates rigorous ultrasound monitoring and caution when predicting pregnancy outcome.

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Section: Discussionmentioning

confidence: 99%

Pregnancy Outcome and Prognosisin Fetuses with Increased First-TrimesterNuchal Translucency

et al. 2001

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“…The second affected fetus in this family had an increased NT measurement of 5.6 mm at 11 weeks of gestation and hydrops. A third fetus [11] had an NT measurement of 9.6 mm and hydrothorax at 96 days of gestational age. …”

Section: Discussionmentioning

confidence: 99%

“…Several authors have reported on pregnancy outcomes associated with enlarged NT in cases of SMA [10,11,12,13,14,15,16,17], and thus, thickened NT has been considered a possible early ultrasound scan sign of SMA. Occasional clinical presentations of SMA in the third trimester of pregnancy are lack of movements and/or hydrothorax/hydrops.…”

Section: Introductionmentioning

confidence: 99%

Further Evidence of No Association between Spinal Muscular Atrophy and Increased Nuchal Translucency

Barone

Bianca²

2012

Fetal Diagn Ther

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Introduction: Several authors have reported on pregnancy outcomes associated with enlarged nuchal translucency (NT) in cases of spinal muscular atrophy (SMA), and thus, thickened NT has been considered a possible early ultrasound scan sign of SMA. The purpose of our study was to evaluate the association between an increased NT and SMA in order to use an ultrasound scan of NT as a possible marker of this disorder. Material and Methods: This is a retrospective and observational study of women who had a fetus or delivered a baby with SMA following a pregnancy in which NT ultrasound has been performed. With the support of ‘Famiglie SMA’, we acquired copies of ultrasound NT measurements, molecular genetic tests confirming the SMA diagnosis in the fetus/baby, other prenatal ultrasound evaluations and informed consent. Results: Twenty-nine Italian women met the inclusion criteria and sent us the requested reports. All had a normal NT measurement for the SMA-affected fetus, with a mean of 1.8 mm (range 0.9–2.4). Discussion: This series does not confirm an association between increased NT and SMA. Fetal genetic testing for the survival motor neuron gene 1 on the basis of increased NT is not indicated in couples with no previous history of this genetic condition.

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“…Also it should be mentioned that in a normal karyotype fetus, the appearance of a thickened NT is also strongly associated with structural defects such as major cardiac malformation and rare genetic syndromes. It is proven that there is an association between increased NT and miscarriage and prenatal death and adverse pregnancy outcome 10 . Proposed pregnancy work up in fetuses with increased NT and normal karyotype includes anatomy scan, fetal echocardiography and in selected cases, infection screening and genetic testing.…”

Section: Introductionmentioning

confidence: 99%

Euploid Fetuses With Increased Nuchal Translucency in Prenatal and Postnatal Follow Up

Barati¹,

Bahrami²,

Mr³

et al. 2015

J Pharm Sci Innov

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The aim of this study was to evaluate the prenatal and postnatal outcomes of fetuses with increased nuchal translucency thickness (NT) and normal karyotype. This study from 2011 to 2013 included 8640 pregnant woman attending the outpatient clinic for the first trimester screening. 245 fetuses with increased NT were submitted to karyotyping analysis, serial anomaly scans, echocardiography and postnatal clinical evaluation. The karyotyping was abnormal in 14.2 % of the cases and normal in 85.8 %. In the present study, 86.6 % of cases with normal karyotype had a normal prenatal and postnatal evaluation. Adverse pregnancy outcome such as spontaneous fetal loss, hydrops, structural abnormality and termination of pregnancy due to multiple anomaly occurred in 13.3 % of cases with normal karyotype. Studying singleton fetuses with an increased NT above the 95 th percentile and normal karyotype showed a percentage of 86.6 % intact survival.

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Outcome and early childhood follow‐up of chromosomally normal fetuses with increased nuchal translucency at 10–14 weeks' gestation

Cited by 70 publications

References 0 publications

Pregnancy Outcome and Prognosisin Fetuses with Increased First-TrimesterNuchal Translucency

Pregnancy Outcome and Prognosisin Fetuses with Increased First-TrimesterNuchal Translucency

Further Evidence of No Association between Spinal Muscular Atrophy and Increased Nuchal Translucency

Euploid Fetuses With Increased Nuchal Translucency in Prenatal and Postnatal Follow Up

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