Evidence map›Paper›PMID 38815555›Full record

ArticleFetal diagnosis and therapy2024

Is Nuchal Translucency of 3.0-3.4 mm an Indication for cfDNA Testing or Microarray? - A Multicenter Retrospective Clinical Cohort Study.

Magda Rybak-Krzyszkowska, Anna Madetko-Talowska, Katarzyna Szewczyk, Mirosław Bik-Multanowski, Agata Sakowicz, David Stejskal, Marie Trková, Dagmar Smetanová, Sílvia Serafim, Hildeberto Correia and 9 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Fetal diagnosis and therapy, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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0cells of the map it votes in
2citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

19 authors.

Magda Rybak-KrzyszkowskaDepartment of Obstetrics and Perinatology University Hospital, Krakow, Poland.
Anna Madetko-TalowskaDepartment of Medical Genetics, Institute of Paediatrics, Faculty of Medicine, Jagiellonian University Medical College, Krakow, Poland.
Katarzyna SzewczykDepartment of Medical Genetics, Institute of Paediatrics, Faculty of Medicine, Jagiellonian University Medical College, Krakow, Poland.
Mirosław Bik-MultanowskiDepartment of Medical Genetics, Institute of Paediatrics, Faculty of Medicine, Jagiellonian University Medical College, Krakow, Poland.
Agata SakowiczDepartment of Medical Biotechnology, Medical University of Lodz, Lodz, Poland.
David StejskalCentre of Medical Genetics and Reproductive Medicine GENNET, Prague, Czechia.
Marie TrkováCentre of Medical Genetics and Reproductive Medicine GENNET, Prague, Czechia.
Dagmar SmetanováCentre of Medical Genetics and Reproductive Medicine GENNET, Prague, Czechia.
Sílvia SerafimUnidade de Citogenética, Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal.
Hildeberto CorreiaUnidade de Citogenética, Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal.
Julian NevadoInstituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz- IdiPaz and Centro de Investigación Básica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Maria Angeles MoriITHACA, International Research Network in Rare Diseases, Hospital Universitario La Paz, Madrid, Spain.
Elena MansillaInstituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz- IdiPaz and Centro de Investigación Básica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Lena RutkowskaDepartment of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Agata KucińskaDepartment of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Agnieszka GachDepartment of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Hubert HurasDepartment of Obstetrics and Perinatology University Hospital, Krakow, Poland.
Magdalena KołakDepartment of Obstetrics and Perinatology University Hospital, Krakow, Poland.
Malgorzata Ilona SrebniakDepartment of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionThis study aimed to evaluate the occurrence of clinically relevant (sub)microscopic chromosomal aberrations in fetuses with the nuchal translucency (NT) range from 3.0 to 3.4 mm, which would be potentially missed by cfDNA testing.

methodsA retrospective data analysis of 271 fetuses with NT between 3.0 and 3.4 mm and increased first trimester combined test (CT) risk in five cohorts of pregnant women referred for invasive testing and chromosomal microarray was performed.

resultsA chromosomal aberration was identified in 18.8% fetuses (1:5; 51/271). In 15% (41/271) of cases, trisomy 21, 18, or 13 were found. In 0.7% (2/271) of cases, sex chromosome aneuploidy was found. In 1.1% (3/271) of cases, CNV >10 Mb was detected, which would potentially also be detected by genome-wide cfDNA testing. The residual risk for missing a submicroscopic chromosome aberration in the presented cohorts is 1.8% (1:54; 5/271).

conclusionOur results indicate that a significant number of fetuses with increased CT risk and presenting NT of 3.0-3.4 mm carry a clinically relevant chromosomal abnormality other than common trisomy. Invasive testing should be offered, and counseling on NIPT should include the test limitations that may result in NIPT false-negative results in a substantial percentage of fetuses.

Indexed as

Nuchal Translucency MeasurementAdultCell-Free Nucleic AcidsChromosome AberrationsChromosome DisordersCohort StudiesFemaleHumansMicroarray AnalysisNoninvasive Prenatal TestingPregnancyRetrospective StudiesCell-Free Nucleic AcidsChromosomal microarrayIncreased nuchal translucencyNoninvasive prenatal testingPrenatal diagnosis

Identifiers

PMID38815555
PMCPMC11446333

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