Perinatal outcome in fetuses with extremely large nuchal translucency measurement

Scott, Fergus; Evans, Jackie; McLennan, Andrew

doi:10.1111/j.1479-828x.2009.00997.x

Cited by 10 publications

(7 citation statements)

References 8 publications

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“…While this is reassuring, there is a need to rule out other genetic syndromes and provide neurodevelopmental monitoring. It is important to postnatally follow‐up these children, as recent literature has shown a risk of behavioral and medical problems that require monitoring over time.…”

Section: Discussionmentioning

confidence: 99%

Microarray and RASopathy‐disorder testing in fetuses with increased nuchal translucency

Sinajon

Chitayat

Roifman

et al. 2020

Ultrasound in Obstet & Gyne

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Objectives To determine the incidence of chromosomal abnormalities, submicroscopic chromosomal abnormalities and RASopathy‐disorder (RD) pathogenic variants in a cohort of pregnancies with nuchal translucency thickness (NT) ≥ 3.5 mm, and to propose a clinical protocol for surveillance of this group of patients. Methods This was a retrospective chart review of patients referred to The Prenatal Diagnosis and Medical Genetics Program at Mount Sinai Hospital between January 2013 and December 2015, due to NT ≥ 3.5 mm, who underwent chorionic villus sampling or amniocentesis. Patients underwent extensive genetic counseling prior to invasive procedures and testing. Quantitative fluorescence polymerase chain reaction (QF‐PCR) was performed as the first‐line test for aneuploidy. If the result was negative, patients underwent karyotyping and/or chromosomal microarray analysis (CMA), and if the findings were normal, they had testing for RD pathogenic variants, which included nine known genes. Patients also underwent detailed fetal ultrasound examinations and echocardiography, performed by expert operators. Results A total of 226 eligible patients were identified. In 116/226 (51.3%) patients, QF‐PCR identified a chromosomal aneuploidy. The remaining 110/226 (48.7%) patients had further genetic testing. Karyotyping/CMA detected an abnormal/pathogenic cytogenetic result in 9/110 (8.2%) patients, as well as five variants of unknown significance (VOUS). RD testing yielded three pathogenic variants (3/103), giving a detection rate of 2.9%, and one VOUS. The optimal NT cut‐off for RD screening was 7.9 mm in this population. In 92/110 (83.6%) patients, the genetic investigations were normal. Of these pregnancies, an early (14–16 weeks' gestation) detailed fetal ultrasound examination identified a structural abnormality in 24 (26.1%), 15 (16.3%) had an abnormal detailed ultrasound examination at 18–22 weeks' gestation and fetal echocardiography showed a cardiac abnormality in nine (9.8%). The birth outcome in the 83 pregnancies that had normal genetic investigations and known outcome included seven (8.4%) cases of termination of pregnancy, seven (8.4%) cases of intrauterine fetal death and 69 (83.1%) cases of live birth. Nine (9.8%) patients were lost to follow‐up. Conclusions Both CMA and molecular testing for RD are important investigations in pregnancies with NT ≥ 3.5 mm. The use of genetic testing combined with fetal ultrasound examination provides valuable information that can influence pregnancy outcome, and provide recurrence risks, in this patient population. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

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Section: Discussionmentioning

confidence: 99%

Microarray and RASopathy‐disorder testing in fetuses with increased nuchal translucency

Sinajon

Chitayat

Roifman

et al. 2020

Ultrasound in Obstet & Gyne

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“…This makes The Netherlands the first country worldwide to offer NIPT in the framework of a national governmental prenatal screening program. NIPT is not offered in pregnancies with an NT ≥3.5 mm, because an increased NT is associated not only with trisomies 13, 18, and 21 but also with structural fetal anomalies, genetic syndromes, and other chromosomal anomalies, which are currently not detected with NIPT . Therefore, in these pregnancies, invasive testing with karyotyping/array analysis and ultrasound examination is offered.…”

Section: Introductionmentioning

confidence: 99%

Detection of fetal chromosomal anomalies: does nuchal translucency measurement have added value in the era of non‐invasive prenatal testing?

et al. 2015

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Objectives The objective of this study is to determine what percentage of fetal chromosomal anomalies remains undetected when first trimester combined testing is replaced by non-invasive prenatal testing for trisomies 13, 18, and 21. We focused on the added clinical value of nuchal translucency (NT) measurement.Methods Data on fetal karyotype, ultrasound findings, and pregnancy outcome of all pregnancies with an NT measurement ≥3.5 mm were retrospectively collected from a cohort of 25 057 singleton pregnancies in which first trimester combined testing was performed.Results Two hundred twenty-five fetuses (0.9 %) had an NT ≥3.5 mm. In 24 of these pregnancies, a chromosomal anomaly other than trisomy 13, 18, or 21 was detected. Eleven resulted in fetal demise, and ten showed fetal ultrasound anomalies. In three fetuses with normal ultrasound findings, a chromosomal anomaly was detected, of which one was a triple X. ConclusionsIn three out of 25 057 pregnancies (0.01%), non-invasive prenatal testing and fetal ultrasound would have missed a chromosomal anomaly that would have been identified by NT measurement.

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“…), the chance of uneventful outcome was similar to the general population regardless of increase in NT (Figure 3). However, this observation needs to be substantiated by larger series as the numbers surviving with very large NT's is small (Scott et al, 2009). Longer term follow-up is also required as some conditions may only present later in childhood.…”

Section: Residual Risk Of Adverse Outcome After 'Normal' Scansmentioning

confidence: 99%

“…This information may be used for parental counseling, particularly for couples who can understand the concept of risk and statistics. In case of very large NT parents should be informed that there is a high chance of spontaneous lethality and that not all anomalies, and especially cardiac, are amenable to prenatal detection (Scott et al, 2009).…”

Section: After Increased Nt and Normal Karyotypementioning

confidence: 99%

Increased nuchal translucency in euploid fetuses—what should we be telling the parents?

et al. 2010

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Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structural defects and genetic syndromes. The risk of adverse outcome is proportional to the degree of NT enlargement. Although the majority of structural anomalies are amenable to ultrasound detection, unspecified genetic syndromes involving developmental delay may only emerge after birth. Concern over these prenatally undetectable conditions is a heavy burden for parents. However, following detection of enlarged NT the majority of babies with normal detailed ultrasound examination and echocardiography will have an uneventful outcome with no increased risk for developmental delay when compared to the general population. Counseling should emphasize this to help parents restore hope in normal pregnancy outcome and infant development. Copyright © 2010 John Wiley & Sons, Ltd.

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Perinatal outcome in fetuses with extremely large nuchal translucency measurement

Abstract: When the karyotype and morphology scan are normal, the outcome is often good in spite of an extremely large NT. However, even a subtle ultrasound anomaly can indicate a genetic syndrome and echocardiography cannot exclude mild cardiac abnormalities.

Cited by 10 publications

References 8 publications

Microarray and RASopathy‐disorder testing in fetuses with increased nuchal translucency

Microarray and RASopathy‐disorder testing in fetuses with increased nuchal translucency

Detection of fetal chromosomal anomalies: does nuchal translucency measurement have added value in the era of non‐invasive prenatal testing?

Increased nuchal translucency in euploid fetuses—what should we be telling the parents?

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