Evidence map›Paper›PMID 41186686›Full record

ArticleArchives of gynecology and obstetrics2025

Can cell-free fetal DNA screening be utilized for the assessment of chromosomal abnormalities in fetuses with mildly increased nuchal translucency?

Linjuan Su, Wantong Zhao, Hailong Huang, Ying Li, Xiaorui Xie, Meiying Cai, Lin Zheng, Liangpu Xu, Xiaoqing Wu

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In one paragraph

Article in Archives of gynecology and obstetrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Linjuan SuFujian Provincial Maternity and Children's Hospital, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Affiliated Hospital of Fujian Medical University, Fuzhou, China.ORCID 0000-0001-7203-0821
Wantong ZhaoFujian Provincial Maternity and Children's Hospital, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Affiliated Hospital of Fujian Medical University, Fuzhou, China.
Hailong HuangFujian Provincial Maternity and Children's Hospital, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Affiliated Hospital of Fujian Medical University, Fuzhou, China.
Ying LiFujian Provincial Maternity and Children's Hospital, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Affiliated Hospital of Fujian Medical University, Fuzhou, China.
Xiaorui XieFujian Provincial Maternity and Children's Hospital, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Affiliated Hospital of Fujian Medical University, Fuzhou, China.
Meiying CaiFujian Provincial Maternity and Children's Hospital, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Affiliated Hospital of Fujian Medical University, Fuzhou, China.
Lin ZhengFujian Provincial Maternity and Children's Hospital, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Affiliated Hospital of Fujian Medical University, Fuzhou, China.
Liangpu XuFujian Provincial Maternity and Children's Hospital, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Affiliated Hospital of Fujian Medical University, Fuzhou, China. kuaicanbao_2011@163.com.
Xiaoqing WuFujian Provincial Maternity and Children's Hospital, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Affiliated Hospital of Fujian Medical University, Fuzhou, China. Wuxiaoqing013@126.com.

Funding

Startup Fund for scientific research, Fujian Medical University 2022QH1186
6 · The paper itself

Abstract

objectivesThis article investigates the theoretical detection rate of non-invasive prenatal screening (NIPS) and the residual risk of copy-number variations (CNVs) after normal NIPS results, for fetuses with isolated mild increased nuchal translucency (ImiNT), compared to chromosomal microarray analysis (CMA).

methodsA retrospective analysis was conducted on CMA results in a cohort with ImiNT (2.5 mm or 95th percentile ≤ NT < 3.5 mm). Theoretical detection rates and residual risk values were calculated for four NIPS panels-Basic NIPS-3, Basic NIPS-5, Expanded NIPS (ExpNIPS), and Genome-Wide (GW) NIPS-for common chromosomal aneuploidies and clinically significant CNVs.

resultsIn a cohort of 936 fetuses with ImiNT, 44 cases had clinically significant CMA results. Basic NIPS-3 could detect 10 cases (9 trisomy 21 and 1 trisomy 18), leaving a residual risk of 3.63% (1/28). Basic NIPS-5 detected 17 cases, including 7 sex chromosome abnormalities, reducing the residual risk to 2.88% (1/35). ExpNIPS identified 18 cases, adding one microdeletion compared to Basic NIPS-5, with a residual risk of 2.78% (1/36). GW NIPS detected 22 cases, finding 5 additional CNVs > 10 Mb compared to Basic NIPS-5, lowering the residual risk to 2.35% (1/43).

conclusionUsing NIPS as a substitute for invasive prenatal diagnosis in cases of ImiNT should still be approached with caution. Couples must be ensured to understand the advantages and limitations of both methods. They should also be informed about the residual risk, ranging from 2.35 (1/43) to 3.63% (1/28), even after normal NIPS results. This understanding will help couples make informed decisions.

Indexed as

Cell-Free Nucleic AcidsChromosome AberrationsChromosome DisordersNoninvasive Prenatal TestingNuchal Translucency MeasurementPrenatal DiagnosisAdultDNA Copy Number VariationsDown SyndromeFemaleHumansMicroarray AnalysisPregnancyRetrospective StudiesCell-Free Nucleic AcidsChromosome abnormalityInvasive procedureNoninvasive prenatal testingNuchal translucencyResidual risk

Identifiers

PMID41186686
PMCPMC12705756

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.