Implementing non-invasive prenatal testing into publicly funded antenatal screening services for Down syndrome and other conditions in Aotearoa New Zealand
نویسندگان
چکیده
BACKGROUND Non-invasive prenatal testing (NIPT) is a relatively new screen for congenital conditions - specifically, common fetal aneuploidies including Down Syndrome. The test is based on isolating freely circulating fragments of fetal-placental DNA that is present in the mother's blood. NIPT has a superior clinical performance compared to current screening, and has been available privately in Aotearoa New Zealand for the last 4 years. MAIN ISSUE The proposed implementation of NIPT as a publicly funded service may widen the inequity in access to optional antenatal screening that already exists in this country. CONCLUSION This paper discusses precautions that can be taken at the health system, organisation, and personnel levels to ensure that access to NIPT is equitable, that services are culturally responsive, and women's informed choice is promoted and protected. The adoption of NIPT into publicly funded services is an example of how genetic screening is becoming mainstreamed into health services; as such our approach may also have relevance around the introduction of other genetic and genomic screening initiatives.
منابع مشابه
Noninvasive prenatal testing for trisomy 21: challenges for implementation in Australia.
The term 'Non invasive prenatal testing' is used to describe the rapidly emerging molecular technologies related to cell free DNA assessment that are being applied to prenatal screening for Down syndrome and other chromosomal abnormalities. This technology is now available to Australian women through a number of off-shore laboratories. We review the basis of this method of testing, the literatu...
متن کاملFirst trimester screening cut-offs for noninvasive prenatal testing as a contingent screen: Balancing detection and screen-positive rates for trisomy 21.
OBJECTIVE To provide data on how screen-positive and detection rates of first trimester prenatal screening for fetal Down syndrome vary with changes in the risk cut-off and maternal age to inform contingency criteria for publicly funded noninvasive prenatal testing. MATERIALS AND METHODS First trimester screening and diagnostic data were collected for all women attending for first trimester f...
متن کاملI-40: Non Invasive Prenatal Genetic Diagnosis;Current Status and The Future
Discovery of cell free fetal DNA in 1997 has deeply changed the outlook of prenatal diagnosis approaches as most of the clinically established screening tests are not sensitive/specific enough while the current practical diagnostic tests are also invasive in their nature. The most common prenatal screening test is routinely practiced for the diagnosis of Down syndrome (DS) which includes a 10% ...
متن کاملNon-invasive prenatal testing.
BACKGROUND Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening tests for fetal chromosomal abnormalities. For trisomy 21 in particular, NIPT is superior to other screening modalities. However, NIPT has limitations and complexities that requesting clinicians and their patients sho...
متن کاملBeyond Trisomy 21: Additional Chromosomal Anomalies Detected through Routine Aneuploidy Screening
Prenatal screening is often misconstrued by patients as screening for trisomy 21 alone; however, other chromosomal anomalies are often detected. This study aimed to systematically review the literature and use diagnostic meta-analysis to derive pooled detection and false positive rates for aneuploidies other than trisomy 21 with different prenatal screening tests. Non-invasive prenatal testing ...
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عنوان ژورنال:
دوره 17 شماره
صفحات -
تاریخ انتشار 2017