ArticleMolecular cytogenetics2016
Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT.
Article in Molecular cytogenetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review.Acta obstetricia et gynecologica Scandinavica · 2020Pooled it
- Article
- How Useful is Nuchal Translucency in Detecting Chromosomal Abnormalities Missed by Genome-Wide NIPT and What Measurement Threshold Should Be Used?Prenatal diagnosis · 2025Article
- Array Comparative Genomic Hybridization (aCGH) Results among Patients Referred to Invasive Prenatal Testing after First-Trimester Screening: A Comprehensive Cohort Study.Diagnostics (Basel, Switzerland) · 2024Article
- Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs.Molecular cytogenetics · 2023Article
- 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.Frontiers in genetics · 2023Article
- A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series.Diagnostics (Basel, Switzerland) · 2022Review
- Application of chromosome microarray analysis and karyotyping in diagnostic assessment of abnormal Down syndrome screening results.BMC pregnancy and childbirth · 2022Article
- Increased nuchal translucency before 11 weeks of gestation: Reason for referral?Prenatal diagnosis · 2021Article
- Review
- The utility of nuchal translucency ultrasound in identifying rare chromosomal abnormalities not detectable by cell-free DNA screening.Prenatal diagnosis · 2020Article
- Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?Prenatal diagnosis · 2020Article
- Lower detectability of non-invasive prenatal testing compared to prenatal diagnosis in high-risk pregnant women.Annals of translational medicine · 2019Article
- Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.European journal of human genetics : EJHG · 2019Article
- Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women.Molecular cytogenetics · 2019Article
- A contingent model for cell-free DNA testing to detect fetal aneuploidy after first trimester combined screening.European journal of obstetrics & gynecology and reproductive biology: X · 2019Article
- Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- [Clinical analyses of 50 cases of myelodysplastic syndrome with deletion of chromosome 5q].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2017Article
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12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSince non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an enlarged NT in the first trimester of pregnancy (tested with SNP microarray) could be detected by NIPT as well.
method362 fetuses were referred for cytogenetic testing due to an enlarged NT (≥3.5 mm). Chromosome aberrations were investigated using QF-PCR, karyotyping and whole genome SNP array.
resultsAfter invasive testing a chromosomal abnormality was detected in 137/362 (38 %) fetuses. 100/362 (28 %) cases concerned trisomy 21, 18 or 13, 25/362 (7 %) an aneuploidy of sex chromosomes and 3/362 (0.8 %) triploidy. In 6/362 (1.6 %) a pathogenic structural unbalanced chromosome aberration was seen and in 3/362 (0.8 %) a susceptibility locus for neurodevelopmental disorders was found. We estimated that in 2-10 % of fetuses with enlarged NT a chromosome aberration would be missed by current NIPT approaches.
conclusionBased on our cohort of fetuses with enlarged NT we may conclude that NIPT, depending on the approach, will miss chromosome aberrations in a significant percentage of pregnancies. Moreover all abnormal NIPT results require confirmatory studies with invasive testing, which will delay definitive diagnosis in ca. 30 % of patients. These figures are important for pretest counseling enabling pregnant women to make informed choices on the prenatal test. Larger cohorts of fetuses with an enlarged NT should be investigated to assess the additional diagnostic value of high resolution array testing for this indication.
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