Relevance of Invasive Testing in Era of Non-Invasive Testing for Prenatal Chromosomal Abnormalities
Prenatal screening for chromosomal abnormalities has two components i.e. prenatal screening (maternal serum screening and cell-free fetal DNA screening) and prenatal diagnosis (chorionic villus sampling, amniocentesis, and cordocentesis). Prenatal testing in the past decade is evolving towards non-...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Medical Network
2022-03-01
|
| Series: | Gynecology Obstetrics & Reproductive Medicine |
| Subjects: | |
| Online Access: | https://gorm.com.tr/index.php/GORM/article/view/1081 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1823857355301847040 |
|---|---|
| author | Abhijeet Kumar Madhusudan Dey Devendra Arora |
| author_facet | Abhijeet Kumar Madhusudan Dey Devendra Arora |
| author_sort | Abhijeet Kumar |
| collection | DOAJ |
| description |
Prenatal screening for chromosomal abnormalities has two components i.e. prenatal screening (maternal serum screening and cell-free fetal DNA screening) and prenatal diagnosis (chorionic villus sampling, amniocentesis, and cordocentesis). Prenatal testing in the past decade is evolving towards non-invasive methods to determine the chromosome abnormality disorders in the fetus without incurring the risk of miscarriage. Conventional tools for prenatal screening included maternal age, maternal serum markers, ultrasound marker (nuchal thickness), and their combinations. With the increased risk of screening test patients were offered diagnostic tests (chorionic villus sampling, amniocentesis, and cordocentesis). After the availability of noninvasive prenatal tests for commercial use in 2011, a great marketing drive is there to establish it as a master tool for prenatal testing. However various society guidelines i.e. ACOG, RCOG, and ISUOG have clearly stated that cell-free fetal DNA based noninvasive prenatal tests is a screening test, not a diagnostic test. In the succeeding paragraph, we will review current trends in the field of cell-free fetal DNA noninvasive prenatal tests and the relevance of invasive testing in the context of noninvasive prenatal tests. Noninvasive prenatal tests does not entirely replace invasive prenatal testing procedures. Positive noninvasive prenatal tests findings must be confirmed by diagnostic tests based on an invasive sample source, mainly chorionic villus sampling or amniocentesis due to false positive and false negative reports of cell-free fetal DNA based tests. Continuing research and development efforts are focused on overriding noninvasive prenatal tests limitations. Recent studies show that procedure-associated risks in the case of prenatal invasive testing are very low as compared to previous studies. Prenatal invasive testing will remain as the backbone of prenatal diagnostic testing until the limitation of noninvasive prenatal tests is overcome.
|
| format | Article |
| id | doaj-art-7590de1e991a4b04b33870b1fe287ac2 |
| institution | Kabale University |
| issn | 1300-4751 2602-4918 |
| language | English |
| publishDate | 2022-03-01 |
| publisher | Medical Network |
| record_format | Article |
| series | Gynecology Obstetrics & Reproductive Medicine |
| spelling | doaj-art-7590de1e991a4b04b33870b1fe287ac22025-02-11T21:14:46ZengMedical NetworkGynecology Obstetrics & Reproductive Medicine1300-47512602-49182022-03-0128110.21613/GORM.2020.1081Relevance of Invasive Testing in Era of Non-Invasive Testing for Prenatal Chromosomal AbnormalitiesAbhijeet Kumar0Madhusudan Dey1Devendra Arora2Army College Of Medical Science and Base Hospital Delhi cantt , Delhi, IndiaSenior Advisor, Department of Obstetric & Gynecology ,Army College Of Medical Science and Base Hospital Delhi cantt , Delhi, IndiaArmy College Of Medical Science and Base Hospital Delhi cantt , Delhi, India Prenatal screening for chromosomal abnormalities has two components i.e. prenatal screening (maternal serum screening and cell-free fetal DNA screening) and prenatal diagnosis (chorionic villus sampling, amniocentesis, and cordocentesis). Prenatal testing in the past decade is evolving towards non-invasive methods to determine the chromosome abnormality disorders in the fetus without incurring the risk of miscarriage. Conventional tools for prenatal screening included maternal age, maternal serum markers, ultrasound marker (nuchal thickness), and their combinations. With the increased risk of screening test patients were offered diagnostic tests (chorionic villus sampling, amniocentesis, and cordocentesis). After the availability of noninvasive prenatal tests for commercial use in 2011, a great marketing drive is there to establish it as a master tool for prenatal testing. However various society guidelines i.e. ACOG, RCOG, and ISUOG have clearly stated that cell-free fetal DNA based noninvasive prenatal tests is a screening test, not a diagnostic test. In the succeeding paragraph, we will review current trends in the field of cell-free fetal DNA noninvasive prenatal tests and the relevance of invasive testing in the context of noninvasive prenatal tests. Noninvasive prenatal tests does not entirely replace invasive prenatal testing procedures. Positive noninvasive prenatal tests findings must be confirmed by diagnostic tests based on an invasive sample source, mainly chorionic villus sampling or amniocentesis due to false positive and false negative reports of cell-free fetal DNA based tests. Continuing research and development efforts are focused on overriding noninvasive prenatal tests limitations. Recent studies show that procedure-associated risks in the case of prenatal invasive testing are very low as compared to previous studies. Prenatal invasive testing will remain as the backbone of prenatal diagnostic testing until the limitation of noninvasive prenatal tests is overcome. https://gorm.com.tr/index.php/GORM/article/view/1081AmniocentesisCell-free fetal DNAChorionic villus samplingInvasivePrenatal testing |
| spellingShingle | Abhijeet Kumar Madhusudan Dey Devendra Arora Relevance of Invasive Testing in Era of Non-Invasive Testing for Prenatal Chromosomal Abnormalities Gynecology Obstetrics & Reproductive Medicine Amniocentesis Cell-free fetal DNA Chorionic villus sampling Invasive Prenatal testing |
| title | Relevance of Invasive Testing in Era of Non-Invasive Testing for Prenatal Chromosomal Abnormalities |
| title_full | Relevance of Invasive Testing in Era of Non-Invasive Testing for Prenatal Chromosomal Abnormalities |
| title_fullStr | Relevance of Invasive Testing in Era of Non-Invasive Testing for Prenatal Chromosomal Abnormalities |
| title_full_unstemmed | Relevance of Invasive Testing in Era of Non-Invasive Testing for Prenatal Chromosomal Abnormalities |
| title_short | Relevance of Invasive Testing in Era of Non-Invasive Testing for Prenatal Chromosomal Abnormalities |
| title_sort | relevance of invasive testing in era of non invasive testing for prenatal chromosomal abnormalities |
| topic | Amniocentesis Cell-free fetal DNA Chorionic villus sampling Invasive Prenatal testing |
| url | https://gorm.com.tr/index.php/GORM/article/view/1081 |
| work_keys_str_mv | AT abhijeetkumar relevanceofinvasivetestingineraofnoninvasivetestingforprenatalchromosomalabnormalities AT madhusudandey relevanceofinvasivetestingineraofnoninvasivetestingforprenatalchromosomalabnormalities AT devendraarora relevanceofinvasivetestingineraofnoninvasivetestingforprenatalchromosomalabnormalities |