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Uptake rate of prenatal genetic screening and invasive testing in pregnant women over the age of 37 in Tygerberg Hospital and factors influencing this.
Thesis (MMed)--Stellenbosch University, 2021.
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| Format: | Thesis |
| Language: | en_ZA |
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2021
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| _version_ | 1867613744426647552 |
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| access_status_str | Open Access |
| author | Du Toit, Nicolene |
| author2 | Geerts, Lutgart Therese Gaston Maria |
| author_browse | Du Toit, Nicolene Geerts, Lutgart Therese Gaston Maria |
| author_facet | Geerts, Lutgart Therese Gaston Maria Du Toit, Nicolene |
| author_sort | Du Toit, Nicolene |
| collection | Thesis |
| description | Thesis (MMed)--Stellenbosch University, 2021. |
| format | Thesis |
| id | oai:scholar.sun.ac.za:10019.1/123930 |
| institution | Stellenbosch University (South Africa) |
| language | en_ZA |
| last_indexed | 2026-06-10T12:41:00.939Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from SUNScholar — Stellenbosch University Repository |
| publishDate | 2021 |
| publishDateRange | 2021 |
| publishDateSort | 2021 |
| record_format | dspace |
| source_str | SUNScholar — Stellenbosch University Repository |
| spelling | oai:scholar.sun.ac.za:10019.1/123930 Uptake rate of prenatal genetic screening and invasive testing in pregnant women over the age of 37 in Tygerberg Hospital and factors influencing this. Du Toit, Nicolene Geerts, Lutgart Therese Gaston Maria Stellenbosch University. Faculty of Medicine and Health Sciences. Dept. of Obstetrics and Gynaecology. Genetic screening Prenatal care Pregnant women -- Invasive testing Thesis (MMed)--Stellenbosch University, 2021. Introduction Prenatal screening in pregnant women of advanced maternal age has been shown to be ineffective in Cape Town. This study aims to determine the uptake rate of prenatal screening and invasive testing by pregnant women over the age of 37 at conception referred to the Tygerberg Hospital fetal medicine unit in 2016, as well as factors which influence this. Methods A retrospective audit was done of prospectively collected data from women over 37. According to our protocol, invasive testing was offered for either age over than 40 years at conception, a high ultrasound‐based risk or a fetal anomaly on ultrasound. Termination of pregnancy was offered for severe structural anomalies or confirmed genetic disorders. Results Of 1196 older women, 645 (54%) received formal genetic counselling and 640 (53.5%) were offered invasive testing. Only 114 (9.5% of all) underwent invasive genetic testing for an overall prenatal testing uptake rate of 17.8%. An additional 10 patients opted for termination of pregnancy without invasive testing but 80% of women who were offered invasive genetic testing (according to our protocol) declined this. Women older than 40 years at conception (75.8 vs 59.6%), those who had previous first trimester losses and those who received pre‐screen counselling (21.2% vs 7.9%) were more likely to decline invasive testing. A higher adjusted risk and a less favourable risk adjustment had a significant effect on the acceptance rate of testing in both first and second trimester assessments and acceptance were highest when a fetal anomaly was detected (54%). Risk reduction was most effective in the first trimester (92% becoming low risk) than after only second trimester assessment (64 % becoming low risk) but most assessments were done and most aneuploidies and anomalies were detected in the second trimester. Diagnostic yield for chromosomal abnormalities was 15.8% (18/114). Conclusions Uptake of invasive testing in this study was low (17.8%), and lower than seen in previous years. Uptake rate was somewhat influenced by maternal characteristics (age, previous miscarriage) and somewhat by the ultrasound‐based risk result, but more so by the offer of pre‐screen counselling and predominantly by the women’s pre‐existing attitude towards the service, Trisomy 21 or the option of termination of pregnancy. Efforts should focus on pre‐screen counselling and first trimester ultrasound screening to improve the cost effectiveness of our prenatal genetic screening program for women of advanced maternal age, but the second trimester ultrasound screening remains paramount as it still provides sensitive aneuploidy screening (although less effective than in the first trimester) for women who initiate antenatal care or are referred after the first trimester and allows the detection of more fetal anomalies than in the first trimester. Pre‐screen counselling and first trimester ultrasound assessment should be improved to dramatically improve the prenatal genetic screening service. AFRIKAANSE OPSOMMING: Geen opsomming beskikbaar Masters 2021-12-06T10:01:07Z 2021-12-22T14:29:46Z 2021-12-06T10:01:07Z 2021-12-22T14:29:46Z 2021-12 Thesis http://hdl.handle.net/10019.1/123930 en_ZA 49 pages application/pdf |
| spellingShingle | Genetic screening Prenatal care Pregnant women -- Invasive testing Du Toit, Nicolene Uptake rate of prenatal genetic screening and invasive testing in pregnant women over the age of 37 in Tygerberg Hospital and factors influencing this. |
| title | Uptake rate of prenatal genetic screening and invasive testing in pregnant women over the age of 37 in Tygerberg Hospital and factors influencing this. |
| title_full | Uptake rate of prenatal genetic screening and invasive testing in pregnant women over the age of 37 in Tygerberg Hospital and factors influencing this. |
| title_fullStr | Uptake rate of prenatal genetic screening and invasive testing in pregnant women over the age of 37 in Tygerberg Hospital and factors influencing this. |
| title_full_unstemmed | Uptake rate of prenatal genetic screening and invasive testing in pregnant women over the age of 37 in Tygerberg Hospital and factors influencing this. |
| title_short | Uptake rate of prenatal genetic screening and invasive testing in pregnant women over the age of 37 in Tygerberg Hospital and factors influencing this. |
| title_sort | uptake rate of prenatal genetic screening and invasive testing in pregnant women over the age of 37 in tygerberg hospital and factors influencing this |
| topic | Genetic screening Prenatal care Pregnant women -- Invasive testing |
| url | http://hdl.handle.net/10019.1/123930 |
| work_keys_str_mv | AT dutoitnicolene uptakerateofprenatalgeneticscreeningandinvasivetestinginpregnantwomenovertheageof37intygerberghospitalandfactorsinfluencingthis |