Genetics in prenatal diagnosis
The options for prenatal genetic testing have evolved rapidly in the past decade, and advances in sequencing technology now allow genetic diagnoses to be made down to the single-base-pair level, even before the birth of the child. This offers women the opportunity to obtain information regarding the...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer – Medknow Publications
2023-01-01
|
| Series: | Singapore Medical Journal |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/singaporemedj.SMJ-2021-433 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1823861447386464256 |
|---|---|
| author | Karen Mei Xian Lim Aniza Puteri Mahyuddin Arundhati Tushar Gosavi Mahesh Choolani |
| author_facet | Karen Mei Xian Lim Aniza Puteri Mahyuddin Arundhati Tushar Gosavi Mahesh Choolani |
| author_sort | Karen Mei Xian Lim |
| collection | DOAJ |
| description | The options for prenatal genetic testing have evolved rapidly in the past decade, and advances in sequencing technology now allow genetic diagnoses to be made down to the single-base-pair level, even before the birth of the child. This offers women the opportunity to obtain information regarding the foetus, thereby empowering them to make informed decisions about their pregnancy. As genetic testing becomes increasingly available to women, clinician knowledge and awareness of the options available to women is of great importance. Additionally, comprehensive pretest and posttest genetic counselling about the advantages, pitfalls and limitations of genetic testing should be provided to all women. This review article aims to cover the range of genetic tests currently available in prenatal screening and diagnosis, their current applications and limitations in clinical practice as well as what the future holds for prenatal genetics. |
| format | Article |
| id | doaj-art-15629541c88b4f00a833a79ddbb8c1b8 |
| institution | Kabale University |
| issn | 0037-5675 2737-5935 |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer – Medknow Publications |
| record_format | Article |
| series | Singapore Medical Journal |
| spelling | doaj-art-15629541c88b4f00a833a79ddbb8c1b82025-02-09T13:24:24ZengWolters Kluwer – Medknow PublicationsSingapore Medical Journal0037-56752737-59352023-01-01641273610.4103/singaporemedj.SMJ-2021-433Genetics in prenatal diagnosisKaren Mei Xian LimAniza Puteri MahyuddinArundhati Tushar GosaviMahesh ChoolaniThe options for prenatal genetic testing have evolved rapidly in the past decade, and advances in sequencing technology now allow genetic diagnoses to be made down to the single-base-pair level, even before the birth of the child. This offers women the opportunity to obtain information regarding the foetus, thereby empowering them to make informed decisions about their pregnancy. As genetic testing becomes increasingly available to women, clinician knowledge and awareness of the options available to women is of great importance. Additionally, comprehensive pretest and posttest genetic counselling about the advantages, pitfalls and limitations of genetic testing should be provided to all women. This review article aims to cover the range of genetic tests currently available in prenatal screening and diagnosis, their current applications and limitations in clinical practice as well as what the future holds for prenatal genetics.https://journals.lww.com/10.4103/singaporemedj.SMJ-2021-433copy number variantsfoetal anomalygenetic testingnext-generation sequencingprenatal diagnosis |
| spellingShingle | Karen Mei Xian Lim Aniza Puteri Mahyuddin Arundhati Tushar Gosavi Mahesh Choolani Genetics in prenatal diagnosis Singapore Medical Journal copy number variants foetal anomaly genetic testing next-generation sequencing prenatal diagnosis |
| title | Genetics in prenatal diagnosis |
| title_full | Genetics in prenatal diagnosis |
| title_fullStr | Genetics in prenatal diagnosis |
| title_full_unstemmed | Genetics in prenatal diagnosis |
| title_short | Genetics in prenatal diagnosis |
| title_sort | genetics in prenatal diagnosis |
| topic | copy number variants foetal anomaly genetic testing next-generation sequencing prenatal diagnosis |
| url | https://journals.lww.com/10.4103/singaporemedj.SMJ-2021-433 |
| work_keys_str_mv | AT karenmeixianlim geneticsinprenataldiagnosis AT anizaputerimahyuddin geneticsinprenataldiagnosis AT arundhatitushargosavi geneticsinprenataldiagnosis AT maheshchoolani geneticsinprenataldiagnosis |