Clinical, social and ethical issues associated with non-invasive prenatal testing for aneuploidy
Non-invasive prenatal testing (NIPT), based on analysis of cell-free foetal DNA, is rapidly becoming a preferred method to screen for chromosomal aneuploidy with the technology now available in over 90 countries. This review provides an up-to-date discussion of the key clinical, social and ethical i...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Taylor & Francis Group
2018-01-01
|
| Series: | Journal of Psychosomatic Obstetrics and Gynecology |
| Subjects: | |
| Online Access: | http://dx.doi.org/10.1080/0167482X.2017.1286643 |
| _version_ | 1797685815603625984 |
|---|---|
| author | Blanche Griffin Samantha Edwards Lyn S. Chitty Celine Lewis |
| author_facet | Blanche Griffin Samantha Edwards Lyn S. Chitty Celine Lewis |
| author_sort | Blanche Griffin |
| collection | DOAJ |
| description | Non-invasive prenatal testing (NIPT), based on analysis of cell-free foetal DNA, is rapidly becoming a preferred method to screen for chromosomal aneuploidy with the technology now available in over 90 countries. This review provides an up-to-date discussion of the key clinical, social and ethical implications associated with this revolutionary technology. Stakeholders are positive about a test that is highly accurate, safe, can be perfomed early in pregnancy, identifies affected pregnancies that might otherwise have been missed and reduces the need for invasive testing. Nevertheless, professional societies currently recommend it as an advanced screening test due to the low false positive rate (FPR). Despite the practical and psychological benefits, a number of concerns have been raised which warrant attention. These include the potential for routinisation of testing and subsequent impact on informed decision-making, an “easy” blood test inadvertently contributing to women feeling pressured to take the test, fears NIPT will lead to less tolerance and support for those living with Down syndrome and the heightened expectation of having “perfect babies”. These issues can be addressed to some extent through clinician education, patient information and establishing national and international consensus in the development of comprehensive and regularly updated guidelines. As the number of conditions we are able to test for non-invasively expands it will be increasingly important to ensure pre-test counselling can be delivered effectively supported by knowledgeable healthcare professionals. |
| first_indexed | 2024-03-12T00:56:48Z |
| format | Article |
| id | doaj.art-0de5eb7b7ead4de99d3a31fc1302a41f |
| institution | Directory Open Access Journal |
| issn | 0167-482X 1743-8942 |
| language | English |
| last_indexed | 2024-03-12T00:56:48Z |
| publishDate | 2018-01-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Journal of Psychosomatic Obstetrics and Gynecology |
| spelling | doaj.art-0de5eb7b7ead4de99d3a31fc1302a41f2023-09-14T12:43:59ZengTaylor & Francis GroupJournal of Psychosomatic Obstetrics and Gynecology0167-482X1743-89422018-01-01391111810.1080/0167482X.2017.12866431286643Clinical, social and ethical issues associated with non-invasive prenatal testing for aneuploidyBlanche Griffin0Samantha Edwards1Lyn S. Chitty2Celine Lewis3Great Ormond Street Hospital for Children NHS Foundation TrustGreat Ormond Street Hospital for Children NHS Foundation TrustGreat Ormond Street Hospital for Children NHS Foundation TrustGreat Ormond Street Hospital for Children NHS Foundation TrustNon-invasive prenatal testing (NIPT), based on analysis of cell-free foetal DNA, is rapidly becoming a preferred method to screen for chromosomal aneuploidy with the technology now available in over 90 countries. This review provides an up-to-date discussion of the key clinical, social and ethical implications associated with this revolutionary technology. Stakeholders are positive about a test that is highly accurate, safe, can be perfomed early in pregnancy, identifies affected pregnancies that might otherwise have been missed and reduces the need for invasive testing. Nevertheless, professional societies currently recommend it as an advanced screening test due to the low false positive rate (FPR). Despite the practical and psychological benefits, a number of concerns have been raised which warrant attention. These include the potential for routinisation of testing and subsequent impact on informed decision-making, an “easy” blood test inadvertently contributing to women feeling pressured to take the test, fears NIPT will lead to less tolerance and support for those living with Down syndrome and the heightened expectation of having “perfect babies”. These issues can be addressed to some extent through clinician education, patient information and establishing national and international consensus in the development of comprehensive and regularly updated guidelines. As the number of conditions we are able to test for non-invasively expands it will be increasingly important to ensure pre-test counselling can be delivered effectively supported by knowledgeable healthcare professionals.http://dx.doi.org/10.1080/0167482X.2017.1286643aneuploidycell-free foetal dnaclinicaldown syndromeethicalnon-invasive prenatal testingsocial |
| spellingShingle | Blanche Griffin Samantha Edwards Lyn S. Chitty Celine Lewis Clinical, social and ethical issues associated with non-invasive prenatal testing for aneuploidy Journal of Psychosomatic Obstetrics and Gynecology aneuploidy cell-free foetal dna clinical down syndrome ethical non-invasive prenatal testing social |
| title | Clinical, social and ethical issues associated with non-invasive prenatal testing for aneuploidy |
| title_full | Clinical, social and ethical issues associated with non-invasive prenatal testing for aneuploidy |
| title_fullStr | Clinical, social and ethical issues associated with non-invasive prenatal testing for aneuploidy |
| title_full_unstemmed | Clinical, social and ethical issues associated with non-invasive prenatal testing for aneuploidy |
| title_short | Clinical, social and ethical issues associated with non-invasive prenatal testing for aneuploidy |
| title_sort | clinical social and ethical issues associated with non invasive prenatal testing for aneuploidy |
| topic | aneuploidy cell-free foetal dna clinical down syndrome ethical non-invasive prenatal testing social |
| url | http://dx.doi.org/10.1080/0167482X.2017.1286643 |
| work_keys_str_mv | AT blanchegriffin clinicalsocialandethicalissuesassociatedwithnoninvasiveprenataltestingforaneuploidy AT samanthaedwards clinicalsocialandethicalissuesassociatedwithnoninvasiveprenataltestingforaneuploidy AT lynschitty clinicalsocialandethicalissuesassociatedwithnoninvasiveprenataltestingforaneuploidy AT celinelewis clinicalsocialandethicalissuesassociatedwithnoninvasiveprenataltestingforaneuploidy |