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The application and factors influencing the implementation of non-invasive prenatal testing (NIPT) worldwide: a review

Ahmad Uzhir, Damiya and Muhammad, Siti Aesah @ Naznin and Zainuddin, Norafiza (2021) The application and factors influencing the implementation of non-invasive prenatal testing (NIPT) worldwide: a review. International Journal of Allied Health Science, 4 (4). pp. 1671-1682. E-ISSN 2600-8491

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Abstract

The purpose of this paper is to review the current scientific evidence on the application of non-invasive prenatal testing (NIPT) besides Trisomy 21, 13 and 18 and factors influencing the implementation of NIPT worldwide from the perspective of pregnant women and other service users. Three databases were searched for related articles using chosen keywords. The PRISMA guidelines were used for the purpose of conducting this review. The assessment of the quality of the articles was done using the Crowe Critical Appraisal Tool (CCAT) version 4.1. Nine articles were accepted as meeting the inclusion criterion and were reviewed. Six applications of NIPT besides Trisomy 21, 13 and 18 were identified: 1) a rare de novo 18p terminal deletion with inverted duplication, 2) skeletal dysplasia, 3) foetal achondroplasia, 4) microdeletion abnormalities of foetal chromosome 15, 5) detection of various foetal sex chromosome abnormalities (SCAs) (Turner syndrome, Triple X syndrome, Klinefelter syndrome and XYY syndrome) and 6) Duchenne and Becker muscular dystrophies. This review identified six factors that influenced the implementation of NIPT: 1) the test detection rate or accuracy, 2) early access to conduct test, 3) cost-effectiveness of implementing NIPT (for the detection of Down Syndrome), 4) availability of informed consent process (preference of service users), 5) education level of service users and 6) a measure of reassurance to service users. To conclude, this review had collated data on the utilization of NIPT in the screening of various chromosomal and genetic disorders and was able to delineate factors influencing the clinical implementation of NIPT from the perspective of health professionals and pregnant women. The findings are expected to contribute towards future implementation of NIPT worldwide.

Item Type: Article (Journal)
Additional Information: 4623/89265
Uncontrolled Keywords: Non-invasive prenatal testing, non-invasive prenatal screening, NIPT, pregnant women, obstetric professionals and implementation factors
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > RG Gynecology and obstetrics
Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button): Kulliyyah of Allied Health Sciences > Department of Biomedical Science (Effective:1st July 2011)
Kulliyyah of Medicine > Department of Pathology & Lab Medicine
Kulliyyah of Allied Health Sciences
Kulliyyah of Medicine
Depositing User: Dr. Norafiza Zainuddin
Date Deposited: 13 Apr 2021 12:48
Last Modified: 13 Apr 2021 12:48
URI: http://irep.iium.edu.my/id/eprint/89265

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