Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
BMC Pregnancy and Childbirth
Published in: BMC Pregnancy and Childbirth 1/2017

Open Access 01-12-2017 | Debate

Implementing non-invasive prenatal testing into publicly funded antenatal screening services for Down syndrome and other conditions in Aotearoa New Zealand

Authors: Sara Filoche, Fiona Cram, Bev Lawton, Angela Beard, Peter Stone

Published in: BMC Pregnancy and Childbirth | Issue 1/2017

Login to get access

Abstract

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.
Literature
1.
Dondorp WJ, Page-Christiaens G, de Wert GM. Genomic futures of prenatal screening: ethical reflection. Clin Genet. 2016;89(5):531–8.CrossRefPubMed
2.
Thung DT, Beulen L, Hehir-Kwa J, Faas BH. Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories. Expert Rev Mol Diagn. 2015;15(1):111–24.CrossRefPubMed
3.
Wong AI, Lo YM. Noninvasive fetal genomic, methylomic, and transcriptomic analyses using maternal plasma and clinical implications. Trends Mol Med. 2015;21(2):98–108.CrossRefPubMed
4.
Wong FC, Lo YM. Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma. Annu Rev Med. 2016;67:419–32.CrossRefPubMed
5.
National Screening Unit. Antenatal Screening for Down Syndrome and Other Conditions: Guidelines for health practitioners. Wellington: Ministry of Health; 2012.
6.
National Screening Unit. A report of the antenatal Down syndrome Screening Advisory Group to the National Screening Unit. Wellington: Ministry of Health; 2007.
7.
Farrell RM, Agatisa PK, Mercer MB, Mitchum AG, Coleridge MB. The use of noninvasive prenatal testing in obstetric care: educational resources, practice patterns, and barriers reported by a national sample of clinicians. Prenat Diagn. 2016;36(6):499–506.CrossRefPubMed
8.
Akolekar R, Beta J, Picciarelli G, Ogilvie C, D'Antonio F. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;45(1):16–26.CrossRefPubMed
9.
Allyse M, Minear MA, Berson E, Sridhar S, Rote M, Hung A, Chandrasekharan S. Non-invasive prenatal testing: a review of international implementation and challenges. Int J Women's Health. 2015;7:113–26.CrossRef
10.
Taylor-Phillips S, Freeman K, Geppert J, Agbebiyi A, Uthman OA, Madan J, Clarke A, Quenby S, Clarke A. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open. 2016;6(1):e010002.CrossRefPubMedPubMedCentral
11.
Barr O, Skirton H. Informed decision making regarding antenatal screening for fetal abnormality in the United Kingdom: a qualitative study of parents and professionals. Nurs Health Sci. 2013;15(3):318–25.CrossRefPubMed
12.
Dormandy E, Michie S, Hooper R, Marteau TM. Low uptake of prenatal screening for Down syndrome in minority ethnic groups and socially deprived groups: a reflection of women's attitudes or a failure to facilitate informed choices? Int J Epidemio. 2005;34(2):346–52.CrossRef
13.
Minear MA, Alessi S, Allyse M, Michie M, Chandrasekharan S. Noninvasive Prenatal Genetic Testing: Current and Emerging Ethical, Legal, and Social Issues. Annu Rev Genomics Hum Genet. 2015;16:369–98.CrossRefPubMed
14.
Rowe RE, Garcia J, Davidson LL. Social and ethnic inequalities in the offer and uptake of prenatal screening and diagnosis in the UK: a systematic review. Public Health. 2004;118(3):177–89.CrossRefPubMed
15.
Arroll N, Sadler L, Stone P, Masson V, Farquhar C. Can we improve the prevention and detection of congenital abnormalities? An audit of early pregnancy care in New Zealand. New Zealand Med J. 2013;126(1380):46–56.PubMed
16.
17.
National Screening Unit. Antenatal Screening for Down Syndrome and Other Conditions: Monitoring Report July 2010 to June 2013. Wellington: Ministry of Health; 2014.
18.
Gil MM, Revello R, Poon LC, Akolekar R, Nicolaides KH. Clinical implementation of routine screening for fetal trisomies in the UK NHS: cell-free DNA test contingent on results from first-trimester combined test. Ultrasound Obstet Gynecol. 2016;47(1):45–52.CrossRefPubMed
19.
Vanstone M, Yacoub K, Giacomini M, Hulan D, McDonald S. Women's Experiences of Publicly Funded Non-Invasive Prenatal Testing in Ontario, Canada: Considerations for Health Technology Policy-Making. Qual Health Res. 2015;25(8):1069–84.CrossRefPubMed
20.
Tamminga S, van Schendel RV, Rommers W, Bilardo CM, Pajkrt E, Dondorp WJ, van Maarle M, Cornel MC, Henneman L. Changing to NIPT as a first-tier screening test and future perspectives: opinions of health professionals. Prenat Diagn. 2015;35(13):1316–23.CrossRefPubMed
21.
Jansen P, Bacal K, Crengle S. He Ritenga Whakaaro: Māori experiences of health services. Auckland: Mauri Ora Associates; 2008.
22.
Cram F. Improving Māori access to health care: Integrated research report. Auckland: Katoa Ltd; 2014.
23.
Gibbs N. Genetically modified organisms and Māori cultural and ethical issues. Report commissioned by the Ministry for the Environment. Wellington: Government Press; 1998.
24.
Greensill A. Genetic engineering - Māori views and values. Pacific World. 1999:25–8.
25.
Smith C, Reynolds P. Māori, genes and genetics: What Māori should know about the new biotechnology. Whanganui: Whanganui Iwi Law Centre; 2000.
26.
Tipene-Matua B, Henaghan M. Choosing genes for future children: Chapter 3 - Māori perspectives on pre-birth genetic testing with particular focus on PGD. Choosing Genes for Future Children, Human Genome Project; 2006. Available at SSRN: https://​ssrn.​com/​abstract=​1604278.
27.
28.
Eastwood A, Webster D, Taylor J, McKay R, McEwen A, Sullivan J, Pope-Couston R, Stone P. Antenatal screening for aneuploidy-surveying the current situation and planning for non-invasive prenatal diagnosis in New Zealand. New Zealand Med J. 2016;129(1429):57–63.PubMed
29.
Filoche SK, Lawton B, Beard A, Stone P. Views of the obstetric profession on non-invasive prenatal testing in Aotearoa New Zealand: A national survey. Aust N Z J Obstet Gynaecol. 2017;
30.
Bianchi DW. Pregnancy: Prepare for unexpected prenatal test results. Nature. 2015;522(7554):29–30.CrossRefPubMed
31.
Health Research Council Pūtaiora Writing Group: Te Ara Tika Guidelines for Māori research ethics: A framework for researchers and ethics committee members 2010.
32.
Hudson M: Biobanking: He Tangatat Kei Tua In: Maori Health Research Symposium. Wellington; 2015.
33.
Metadata
Title
Implementing non-invasive prenatal testing into publicly funded antenatal screening services for Down syndrome and other conditions in Aotearoa New Zealand
Authors
Sara Filoche
Fiona Cram
Bev Lawton
Angela Beard
Peter Stone
Publication date
01-12-2017
Publisher
BioMed Central
Published in
BMC Pregnancy and Childbirth / Issue 1/2017
Electronic ISSN: 1471-2393
DOI
https://doi.org/10.1186/s12884-017-1535-x

Other articles of this Issue 1/2017

BMC Pregnancy and Childbirth 1/2017 Go to the issue

Research article

Comparison of rapid immunoassays for rupture of fetal membranes

Research article

Measurement properties of comorbidity indices in maternal health research: a systematic review

Research article

Intrapartum factors associated with neonatal hypoxic ischemic encephalopathy: a case-controlled study

Research article

Determinants of poor utilization of antenatal care services among recently delivered women in Rwanda; a population based study

Research article

Impact of the roll out of comprehensive emergency obstetric care on institutional birth rate in rural Nepal

Research article

Risk factors for postpartum depression among Chinese women: path model analysis