Social and medical need for whole genome high resolution NIPT
| العنوان: | Social and medical need for whole genome high resolution NIPT |
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| المؤلفون: | Marike Polak, Marieke Joosten, Maarten F. C. M. Knapen, Robert-Jan H. Galjaard, Laura J. C. M. van Zutven, Attie T.J.I. Go, Karin E. M. Diderich, Krista A. K. E. Prinsen, Diane Van Opstal, Lutgarde C.P. Govaerts, Lies H. Hoefsloot, Malgorzata I. Srebniak, Sam Riedijk |
| المساهمون: | Clinical Genetics, Obstetrics & Gynecology, Research Methods and Techniques, Erasmus MC other |
| المصدر: | Molecular Genetics & Genomic Medicine Molecular genetics & genomic medicine, 8(1). John Wiley & Sons Inc. Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020) |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | 0301 basic medicine, medicine.medical_specialty, Microarray, lcsh:QH426-470, Noninvasive Prenatal Testing, Aneuploidy, High resolution, Prenatal diagnosis, 030105 genetics & heredity, Sensitivity and Specificity, 03 medical and health sciences, patients preferences, Pregnancy, Genetics, medicine, Humans, Molecular Biology, Genetics (clinical), High resolution analysis, Chromosome Aberrations, Genome, prenatal diagnosis, business.industry, Obstetrics, Original Articles, medicine.disease, First trimester, lcsh:Genetics, 030104 developmental biology, Prenatal screening, Attitude, diagnostic yield, Female, Original Article, Pregnant Women, business, microarray, Needs Assessment, NIPT |
| الوصف: | Background Two technological innovations in the last decade significantly influenced the diagnostic yield of prenatal cytogenetic testing: genomic microarray allowing high resolution analysis and noninvasive prenatal testing (NIPT) focusing on aneuploidy. To anticipate future trends in prenatal screening and diagnosis, we evaluated the number of invasive tests in our center and the number of aberrant cases diagnosed in the last decade. Methods We retrospectively analyzed fetal chromosomal aberrations diagnosed in 2009–2018 in 8,608 pregnancies without ultrasound anomalies. Results The introduction of NIPT as the first‐tier test led to a substantial decrease in the number of invasive tests and a substantially increased diagnostic yield of aneuploidies in the first trimester. However, we have also noted a decreased detection of submicroscopic aberrations, since the number of invasive tests substantially decreased. We have observed that pregnant women were interested in broader scope of prenatal screening and diagnosis than detection of common trisomies. Conclusion Since the frequency of syndromic disorders caused by microdeletions/microduplications is substantial and current routine NIPT and ultrasound investigations are not able to detect them, we suggest that a noninvasive test with resolution comparable to microarrays should be developed, which will also meet patient's needs. The frequency of syndromic disorders caused by microdeletions/microduplications is substantial and because current prenatal screening protocols with noninvasive prenatal testing (NIPT) focusing on aneuploidies and ultrasound investigations are not able to detect them, we suggest to develop the genotype‐first approach through higher resolution NIPT, which will also meet patient's needs. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2324-9269 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faebcb36ca8902e0291067b00bb5d122Test https://doi.org/10.1002/mgg3.1062Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....faebcb36ca8902e0291067b00bb5d122 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 23249269 |
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