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

M. Rybak-Krzyszkowska, A. Madetko-Talowska, K. Szewczyk, M. Bik-Multanowski, A. Sakowicz, D. Stejskal, M. Trková, D. Smetanová, S. Serafim, H. Correia, J. Nevado, M. Angeles Mori, E. Mansilla, L. Rutkowska, A. Kucińska, A. Gach, H. Huras, M....

. 2024 ; 51 (5) : 453-462. [pub] 20240531

Jazyk angličtina Země Švýcarsko

Typ dokumentu časopisecké články, multicentrická studie

Perzistentní odkaz   https://www.medvik.cz/link/bmc25004204

INTRODUCTION: This 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. METHODS: A 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. RESULTS: A 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). CONCLUSION: Our 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.

Citace poskytuje Crossref.org

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$a Szewczyk, Katarzyna $u Department of Medical Genetics, Institute of Paediatrics, Faculty of Medicine, Jagiellonian University Medical College, Krakow, Poland
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$a Bik-Multanowski, Mirosław $u Department of Medical Genetics, Institute of Paediatrics, Faculty of Medicine, Jagiellonian University Medical College, Krakow, Poland
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$a Sakowicz, Agata $u Department of Medical Biotechnology, Medical University of Lodz, Lodz, Poland
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$a Stejskal, David $u Centre of Medical Genetics and Reproductive Medicine GENNET, Prague, Czechia
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$a Trková, Marie $u Centre of Medical Genetics and Reproductive Medicine GENNET, Prague, Czechia
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$a Smetanová, Dagmar $u Centre of Medical Genetics and Reproductive Medicine GENNET, Prague, Czechia
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$a Serafim, Sílvia $u Unidade de Citogenética, Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal
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$a Nevado, Julian $u Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz- IdiPaz and Centro de Investigación Básica en Red de Enfermedades Raras (CIBERER), Madrid, Spain $u ITHACA, International Research Network in Rare Diseases, Hospital Universitario La Paz, Madrid, Spain
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$a Angeles Mori, Maria $u ITHACA, International Research Network in Rare Diseases, Hospital Universitario La Paz, Madrid, Spain
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$a Rutkowska, Lena $u Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland
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$a Kucińska, Agata $u Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland
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$a Gach, Agnieszka $u Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland
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$a Huras, Hubert $u Department of Obstetrics and Perinatology University Hospital, Krakow, Poland
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$a Kołak, Magdalena $u Department of Obstetrics and Perinatology University Hospital, Krakow, Poland
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