The influence of SNP‐based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies |
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| Authors: | Malgorzata I Srebniak Maarten FCM Knapen Marike Polak Marieke Joosten Karin EM Diderich Lutgarde CP Govaerts Marjan Boter Joan NR Kromosoeto Daniella Aloysia CM van Hassel Gido Huijbregts Wilfred FJ van IJcken Roger Heydanus Anneke Dijkman Toon Toolenaar Femke AT de Vries Jeroen Knijnenburg Attie TJI Go Robert‐Jan H Galjaard Diane Van Opstal |
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| Institution: | 1. Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands;2. Department of Obstetrics and Gynecology, Erasmus Medical Centre, Rotterdam, The Netherlands;3. Foundation Prenatal Screening Southwest region of the Netherlands, Rotterdam, The Netherlands;4. Institute of Psychology, Erasmus University Rotterdam, Rotterdam, The Netherlands;5. Center for Biomics, Erasmus MC, Rotterdam, The Netherlands;6. Department of Obstetrics and Gynecology, Amphia Hospital, Breda, The Netherlands;7. Department of Obstetrics and Gynecology, Reinier de Graaf Gasthuis, Delft, The Netherlands;8. Department of Gynecology, Albert Schweitzer Hospital Dordrecht, The Netherlands |
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| Abstract: | Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and noninvasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our center. The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 10,005 cases referred for prenatal testing in 2009–2015. Chromosomal SNP microarray analysis replaced karyotyping in all invasively tested pregnancies and since 2014 a choice between NIPT and diagnostic testing with microarray was offered to women with an increased risk for common aneuploidy. The introduction of microarray led to an additional yield of submicroscopic pathogenic chromosome aberrations: 3.6% in fetuses with ultrasound anomalies and 1.9% in fetuses without ultrasound anomalies. The introduction of NIPT led to a decrease of invasive tests and of diagnostic yield. Moreover, a diagnostic delay in about 1:350 cases was observed. Since 20%–33% of pathogenic fetal chromosome aberrations are different from the common aneuploidies and triploidy, whole‐genome analysis should be offered after invasive sampling. Because NIPT (as a second screening) has led to a decreased diagnostic yield, it should be accompanied by an appropriate pretest counseling. |
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| Keywords: | diagnostic yield first trimester screening NIPT noninvasive prenatal testing microarray testing prenatal diagnosis SNP array ultrasound anomalies |
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