Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations

Author:

Hatt Lotte1ORCID,Singh Ripudaman1,Christensen Rikke2,Ravn Katarina1,Christensen Inga B1,Jeppesen Line Dahl1,Nicolaisen Bolette Hestbek1,Kølvraa Mathias1,Schelde Palle1,Andreassen Lotte2,Farlie Richard3,Uldbjerg Niels45,Vogel Ida25ORCID

Affiliation:

1. ARCEDI Biotech ApS Vejle Denmark

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

3. Department of Women's Disease and Birth Viborg Hospital Viborg Denmark

4. Department of Women's Disease and Birth Aarhus University Hospital Aarhus Denmark

5. Department of Clinical Medicine Aarhus University Aarhus Denmark

Funder

Novo Nordisk Fonden

Publisher

Wiley

Subject

General Medicine

Reference31 articles.

1. Potential diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening

2. National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973-2016 in Denmark

3. Screening performance for trisomy 21 comparing first trimester combined screening and a first trimester contingent screening protocol including ductus venosus and tricuspid flow

4. Guidelines for prenatal diagnostics. Danish Health Authority.https://www.sst.dk/da/udgivelser/2017//‐/media/Udgivelser/2017/Fosterdiagnostik/Retningslinjer‐for‐fosterdiagnostik.ashx

5. The Danish Cytogenetic Centralregister (DCCR).Danish Invasive rates 2018:https://www.auh.dk/siteassets/afdelinger/klinisk‐genetisk‐afdeling/dccr/pdf/pn‐am‐cvs_1970‐2018.pdf

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