Different Cutoff Values for Increased Nuchal Translucency in First-Trimester Screening to Predict Fetal Chromosomal Abnormalities

Su, Linjuan; Wu, Xiaoqing; Lin, Ning; Xie, Xiaorui; Cai, Meiying; Wang, Meiying; Zheng, Lin; Xu, Liangpu

doi:10.2147/ijgm.s330960

Cited by 4 publications

(5 citation statements)

References 29 publications

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“…However, the percentage of pCNVs and monogenic disease were elevated when NT ≥ 4.5 mm, showing the necessity for combining CMA and WES for NT ≥ 4.5 mm. Currently, different countries have different criteria for the cutoff value of increased NT ( Su et al, 2021 ), most countries use NT ≥ 3.5 mm or the 99th percentile as the cutoff value of increased NT, while some countries use the 95th percentile. Most scholars in China use NT ≥ 3.0 mm or ≥3.5 mm as the standard.…”

Section: Discussionmentioning

confidence: 99%

When NIPT meets WES, prenatal diagnosticians face the dilemma: genetic etiological analysis of 2,328 cases of NT thickening and follow-up of pregnancy outcomes

et al. 2023

Front. Genet.

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Objective: To assess the performance of diverse prenatal diagnostic approaches for nuchal translucency (NT) thickening and to investigate the optimal prenatal screening or diagnostic action with a NT thickening of 95th percentile-3.50 mm.Methods: A retrospective analysis of 2,328 pregnancies with NT ≥ 95th percentile through ultrasound-guided transabdominal chorionic villus sampling (CVS), amniocentesis, or cordocentesis obtained clinical samples (chorionic villi, amniotic fluid, and cord blood), and real-time quantitative fluorescent PCR (QF-PCR), chromosome karyotyping (CS), chromosome microarray analysis (CMA), or whole exome sequencing (WES) were provided to identify genetic etiologies.Results: In this study, the incidence of chromosomal defects increased with NT thickness. When NT ≥ 6.5 mm, 71.43% were attributed to genetic abnormalities. The 994 gravidas with fetal NT thickening underwent short tandem repeat (STR), CS, and CMA. In 804 fetuses with normal karyotypes, CMA detected 16 (1.99%) extra pathogenic or likely pathogenic copy number variations (CNVs). The incremental yield of CMA was only 1.16% (3/229) and 3.37% (10/297) in the group with NT 95th percentile-2.99 mm and NT 3.0–3.49 mm, separately. Among the 525 gravidas with fetal NT thickening who underwent STR, CMA, and WES, the incremental yield of WES was 4.09% (21/513). In the group of NT 95th percentile-2.99 mm, there were no additional single-nucleotide variations (SNVs) detected in WES, while in 143 cases with NT of 3.0–3.49 mm, the incremental yield of WES was 5.59% (8/143).Conclusion: In the group of NT 95th percentile-3.0 mm, since chromosomal aneuploidy and chromosomal copy number variation were the primary causes and the additional contribution of CMA and WES was not significant, we recommend NIPT-Plus for pregnant women with a NT thickening of 95th percentile-3.0 mm first. In addition, comprehensive prenatal genetic testing involving CMA and WES can benefit pregnancies with NT thickening of 3.0–3.49 mm.

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Section: Discussionmentioning

confidence: 99%

When NIPT meets WES, prenatal diagnosticians face the dilemma: genetic etiological analysis of 2,328 cases of NT thickening and follow-up of pregnancy outcomes

et al. 2023

Front. Genet.

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“…Indeed, some jurisdictions have adopted thresholds to offer follow-up investigations much lower than the 99th percentile (eg, 95th percentile in Finland, the Netherlands, Germany, and Switzerland). 33 These findings also highlight the importance of a robust quality assurance program to support nuchal translucency measurement, as chronic undermeasurement can reduce the screening sensitivity. 34 , 35 , 36 , 37 , 38 , 39 …”

Section: Discussionmentioning

confidence: 94%

“…While the increased risk of chromosomal anomalies in pregnancies with nuchal translucencies less than 3.5 mm could be partly due to chronic undermeasurement, it is unlikely that this would be the only factor. Indeed, some jurisdictions have adopted thresholds to offer follow-up investigations much lower than the 99th percentile (eg, 95th percentile in Finland, the Netherlands, Germany, and Switzerland) . These findings also highlight the importance of a robust quality assurance program to support nuchal translucency measurement, as chronic undermeasurement can reduce the screening sensitivity …”

Section: Discussionmentioning

confidence: 99%

Ultrasonographic Fetal Nuchal Translucency Measurements and Cytogenetic Outcomes

Bellai-Dussault,

Dougan,

Fell

et al. 2024

JAMA Netw Open

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ImportanceUltrasonographic measurement of fetal nuchal translucency is used in prenatal screening for trisomies 21 and 18 and other conditions. A cutoff of 3.5 mm or greater is commonly used to offer follow-up investigations, such as prenatal cell-free DNA (cfDNA) screening or cytogenetic testing. Recent studies showed a possible association with chromosomal anomalies for levels less than 3.5 mm, but extant evidence has limitations.ObjectiveTo evaluate the association between different nuchal translucency measurements and cytogenetic outcomes on a population level.Design, Setting, and ParticipantsThis population-based retrospective cohort study used data from the Better Outcomes Registry &amp; Network, the perinatal registry for Ontario, Canada. All singleton pregnancies with an estimated date of delivery from September 1, 2016, to March 31, 2021, were included. Data were analyzed from March 17 to August 14, 2023.ExposuresNuchal translucency measurements were identified through multiple-marker screening results.Main Outcomes and MeasuresChromosomal anomalies were identified through all Ontario laboratory-generated prenatal and postnatal cytogenetic tests. Cytogenetic testing results, supplemented with information from cfDNA screening and clinical examination at birth, were used to identify pregnancies without chromosomal anomalies. Multivariable modified Poisson regression with robust variance estimation and adjustment for gestational age was used to compare cytogenetic outcomes for pregnancies with varying nuchal translucency measurement categories and a reference group with nuchal translucency less than 2.0 mm.ResultsOf 414 268 pregnancies included in the study (mean [SD] maternal age at estimated delivery date, 31.5 [4.7] years), 359 807 (86.9%) had a nuchal translucency less than 2.0 mm; the prevalence of chromosomal anomalies in this group was 0.5%. An increased risk of chromosomal anomalies was associated with increasing nuchal translucency measurements, with an adjusted risk ratio (ARR) of 20.33 (95% CI, 17.58-23.52) and adjusted risk difference (ARD) of 9.94% (95% CI, 8.49%-11.39%) for pregnancies with measurements of 3.0 to less than 3.5 mm. The ARR was 4.97 (95% CI, 3.45-7.17) and the ARD was 1.40% (95% CI, 0.77%-2.04%) when restricted to chromosomal anomalies beyond the commonly screened aneuploidies (excluding trisomies 21, 18, and 13 and sex chromosome aneuploidies).Conclusions and RelevanceIn this cohort study of 414 268 singleton pregnancies, those with nuchal translucency measurements less than 2.0 mm were at the lowest risk of chromosomal anomalies. Risk increased with increasing measurements, including measurements less than 3.5 mm and anomalies not routinely screened by many prenatal genetic screening programs.

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“…Few other groups have also advised invasive testing for pregnancies with NT ≥3 mm 12,13 . Studies from different races and ethnic groups have used lower cutoff values for increased NT to predict fetal chromosomal abnormalities 14,15 …”

Section: Introductionmentioning

confidence: 99%

“…12,13 Studies from different races and ethnic groups have used lower cutoff values for increased NT to predict fetal chromosomal abnormalities. 14,15 In general, many Arab countries have some of the highest rates of consanguineous marriages and recent studies show that the prevalence of consanguineous marriages is around 20%-30% in United Arab Emirates. 16 This study was conducted to evaluate the outcome of pregnancies with first-trimester increased NT and cystic hygromas in our diverse multi-ethnic but predominantly Arabic population, use the information to counsel women with these complications, and demonstrate whether there is a relationship between NT thickness and adverse pregnancy outcomes.…”

mentioning

confidence: 99%

Outcome of pregnancies with first‐trimester increased nuchal translucency and cystic hygroma in a tertiary maternity hospital in United Arab Emirates

Narava

Singh

Barpanda

et al. 2022

Intl J Gynecology & Obste

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Objective To study the outcome of pregnancies with first‐trimester increased nuchal translucency and cystic hygromas. Methodology Retrospective study of 132 pregnancies with first‐trimester increased nuchal translucency and cystic hygromas, between January 2015 to December 2018 at Corniche Hospital, Abu Dhabi, UAE. Fetal karyotyping, detailed ultrasound at 18–22 weeks and fetal echocardiography were offered to all women. Adverse outcomes included miscarriage, intrauterine fetal death, termination of pregnancy, neonatal death and structural abnormalities. Results Of the 132 pregnancies, 13 had NT > 95th percentile, 89 had NT ≥3 mm and 30 had cystic hygroma. Among 13 pregnancies with NT > 95th centile, 7.6% had abnormal karyotype. Among 89 pregnancies with NT ≥3 mm, 29.2% had abnormal karyotype, 13.4% miscarriage, 7.8% underwent TOP, 5.6% intrauterine fetal death, 1.1% neonatal death and 14.6% had structural abnormalities. Among 30 pregnancies with cystic hygroma, 40% had abnormal karyotype, 20% miscarriage, 13.3% TOP, 13.3% intrauterine fetal death, 6.6% had neonatal death and 20% had structural abnormalities. Conclusion In our study, karyotype abnormalities increased with increasing nuchal translucency with highest risk in fetuses with cystic hygromas. Increased nuchal translucency was associated with adverse pregnancy outcome, which was higher in the group with NT≥6 mm and cystic hygromas.

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Different Cutoff Values for Increased Nuchal Translucency in First-Trimester Screening to Predict Fetal Chromosomal Abnormalities

Cited by 4 publications

References 29 publications

When NIPT meets WES, prenatal diagnosticians face the dilemma: genetic etiological analysis of 2,328 cases of NT thickening and follow-up of pregnancy outcomes

When NIPT meets WES, prenatal diagnosticians face the dilemma: genetic etiological analysis of 2,328 cases of NT thickening and follow-up of pregnancy outcomes

Ultrasonographic Fetal Nuchal Translucency Measurements and Cytogenetic Outcomes

Outcome of pregnancies with first‐trimester increased nuchal translucency and cystic hygroma in a tertiary maternity hospital in United Arab Emirates

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