The reduced use of invasive procedures leads to a change of frequencies of prenatally detected chromosomal aberrations: population data from the years 2012–2016
| Autor: | Vladimír Gregor, Marek Maly, Antonín Šípek, Pavel Calda, Jan Klaschka |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Oncology medicine.medical_specialty Trisomy 13 Syndrome Population Trisomy 030105 genetics & heredity Dna testing 03 medical and health sciences 0302 clinical medicine Pregnancy Prenatal Diagnosis Internal medicine medicine Humans education Chromosome Aberrations education.field_of_study 030219 obstetrics & reproductive medicine business.industry Obstetrics and Gynecology General Medicine Prenatal screening Pediatrics Perinatology and Child Health Population data Female business Cell-Free Nucleic Acids |
| Zdroj: | The Journal of Maternal-Fetal & Neonatal Medicine. 35:4326-4331 |
| ISSN: | 1476-4954 1476-7058 |
| DOI: | 10.1080/14767058.2020.1849113 |
| Popis: | The aim of the study was to analyze the results of screening for chromosomal aberrations in a population with a high rate of first-trimester screening and low rate of cell-free DNA testing.The data were obtained from the National Registry of Congenital Anomalies of the Czech Republic. We calculated and compared the proportion of autosomal trisomies (Down, Edwards, and Patau syndrome) and of other chromosomal aberrations identified during prenatal diagnostics.We identified 3009 prenatally diagnosed cases of chromosomal aberrations in the 2012-2016 period. The number of major autosomal trisomies has increased from 329 cases (30.86 per 10,000 live births) in 2012 to 423 cases (37.41) in 2016 (Our population-based study confirmed a decrease in prenatal detection of nonmajor chromosomal aberrations wherein a decrease of invasive testing occurred. With the introduction of cell-free DNA testing, further decrease of invasive procedures and detection of nonmajor aberrations may be expected. |
| Databáze: | OpenAIRE |
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