Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation.


Journal

Acta obstetricia et gynecologica Scandinavica
ISSN: 1600-0412
Titre abrégé: Acta Obstet Gynecol Scand
Pays: United States
ID NLM: 0370343

Informations de publication

Date de publication:
06 2020
Historique:
received: 21 10 2019
revised: 30 01 2020
accepted: 24 02 2020
pubmed: 17 3 2020
medline: 21 10 2020
entrez: 17 3 2020
Statut: ppublish

Résumé

Noninvasive prenatal testing (NIPT) using cell-free fetal DNA has increasingly been adopted as a screening tool for fetal aneuploidies. Several studies have discussed benefits and limitations of NIPT compared with both ultrasound and invasive procedures, but in spite of some shortcomings NIPT has become extensively used within the last 5 years. This study aims to describe the current use of NIPT in Europe, Australia and the USA. We conducted a survey to describe the current use of NIPT. Colleagues filled in a simple email-based questionnaire on NIPT in their own country, providing information on (a) access to NIPT, (b) NIPT's chromosomal coverage, (c) financial coverage of NIPT for the patient and (d) the proportion of women using NIPT in pregnancy. Some data are best clinical estimates, due to a lack of national data. In Europe, 14 countries have adopted NIPT into a national policy/program. Two countries (Belgium and the Netherlands) offer NIPT for all pregnant women, whereas most other European countries have implemented NIPT as an offer for higher risk women after first trimester screening. In Australia, either combined first trimester screening (cFTS) or NIPT is used as a primary prenatal screening test. In the USA, there are no national consensus policies on the use of NIPT; however, NIPT is widely implemented. In most European countries offering NIPT, the proportion of women using NIPT is well below 25%. In the Netherlands, Austria, Italy, Spain and most Australian and American States, 25%-50% of women have NIPT performed and in Belgium testing is above 75%. In most countries, NIPT reports on trisomy 13, 18 and 21, and often also on sex chromosome aneuploidies. Only in Belgium, the Netherlands, Lithuania, Greece, Cyprus and Italy is NIPT offered predominantly as a genome-wide test (including some microdeletions or a whole genome coverage). Noninvasive prenatal testing has been widely adopted throughout Europe, Australia and the USA, but only a few countries/states have a national policy on the use of NIPT. The variation in NIPT utilization is considerable.

Identifiants

pubmed: 32176318
doi: 10.1111/aogs.13841
doi:

Types de publication

Comparative Study Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

722-730

Subventions

Organisme : HCRW_
ID : HCRW_HRG-18-1507
Pays : United Kingdom

Informations de copyright

© 2020 Nordic Federation of Societies of Obstetrics and Gynecology.

Références

Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2017;50:302-314.
Iwarsson E, Jacobsson B, Dagerhamn J, Davidson T, Bernabe E, Heibert AM. Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population - a systematic review and meta-analysis. Acta Obstet Gynecol Scand. 2017;96:7-18.
Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther. 2010;27:1-7.
Wulff CB, Gerds TA, Rode L, Ekelund CK, Petersen OB, Tabor A. Risk of fetal loss associated with invasive testing following combined first-trimester screening for Down syndrome: a national cohort of 147,987 singleton pregnancies. Ultrasound Obstet Gynecol. 2016;47:38-44.
Petersen OB, Vogel I, Ekelund C, Hyett J, Tabor A, the Danish Fetal Medicine Study Group, the Danish Clinical Genetics Study Group. Potential diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening. Ultrasound Obstet Gynecol. 2014;43:265-271.
Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367:2175-2184.
Committee on Practice Bulletins-Obstetrics, Committee on Genetics, and the Society for Maternal-Fetal Medicine. Practice bulletin no. 163: screening for fetal aneuploidy. Obstet Gynecol. 2016;127:e123-e137.
Minear MA, Lewis C, Pradhan S, Chandrasekharan S. Global perspectives on clinical adoption of NIPT. Prenat Diagn. 2015;35:959-967.
van Schendel RV, van El CG, Pajkrt E, Henneman L, Cornel MC. Implementing non-invasive prenatal testing for aneuploidy in a national healthcare system: global challenges and national solutions. BMC Health Serv Res. 2017;17:670.
Helsenorge. Fosterdiagnostikk: 2019. https://helsenorge.no/undersokelse-og-behandling/fosterdiagnostikk
Larion S, Warsof SL, Romary L, Mlynarczyk M, Peleg D, Abuhamad AZ. Uptake of noninvasive prenatal testing at a large academic referral center. Am J Obstet Gynecol. 2014;211(6):651.e1-651.e7.
Chan YM, Leung WC, Chan WP, Leung TY, Cheng YK, Sahota DS. Women’s uptake of non-invasive DNA testing following a high-risk screening test for trisomy 21 within a publicly funded healthcare system: findings from a retrospective review. Prenat Diagn. 2015;35:342-347.
Chetty S, Garabedian MJ, Norton ME. Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenat Diagn. 2013;33:542-546.
van der Meij KRM, Sistermans EA, Macville MVE, et al. TRIDENT-2: national implementation of genome-wide non-invasive prenatal testing as a first-tier screening test in the Netherlands. Am J Hum Genet. 2019;105:1091-1101.
The Danish Cytogenetic Central Register (DCCR). Danish invasive rates 2018. https://www.auh.dk/siteassets/afdelinger/klinisk-genetisk-afdeling/dccr/pdf/pn-am-cvs_1970-2018.pdf
Jani JC, Gil MM, Benachi A, et al. Genome-wide cfDNA testing of maternal blood. Ultrasound Obstet Gynecol. 2020;55:13-14.
Liehr T. Non-invasive prenatal testing - safer or simply more profitable? 2019. https://atlasofscience.org/non-invasive-prenatal-testing-safer-or-simply-more-profitable/

Auteurs

Kasper Gadsbøll (K)

Center for Fetal Medicine, Pregnancy and Ultrasound, University Hospital Rigshospitalet, Copenhagen, Denmark.

Olav B Petersen (OB)

Center for Fetal Medicine, Pregnancy and Ultrasound, University Hospital Rigshospitalet, Copenhagen, Denmark.
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

Vincent Gatinois (V)

Chromosome Genetics Laboratory, CHU Montpellier, University of Montpellier, Montpellier, France.

Heather Strange (H)

Centre for Trials Research, Cardiff University, Cardiff, UK.

Bo Jacobsson (B)

Sahlgrenska University Hospital, Gothenburg, Sweden.

Ronald Wapner (R)

Department of Obstetrics and Gynecology, Columbia University, New York, NY, USA.

Joris R Vermeesch (JR)

Department of Human Genetics, KU Leuven, Leuven, Belgium.

Ida Vogel (I)

Department of Clinical Genetics, Aarhus University/Aarhus University Hospital, Aarhus, Denmark.
Center for Fetal Diagnostics, Aarhus University/Aarhus University Hospital, Aarhus, Denmark.

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