Maternal mosaicism for a large segmental duplication of 18q as a secondary finding following non-invasive prenatal testing and implications for test accuracy-Reference-Cited by-同舟云学术

Maternal mosaicism for a large segmental duplication of 18q as a secondary finding following non-invasive prenatal testing and implications for test accuracy

Published:2015-07-06 Issue:10 Volume:35 Page:986-989
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat Diagn

Author:

Flowers Nicola¹,Kelley Joanne²,Sigurjonsson Styrmir³,Bruno Damien L.¹,Pertile Mark D.¹⁴

Affiliation:

1. Victorian Clinical Genetics Services Cytogenetics Laboratory; Murdoch Childrens Research Institute; Melbourne Australia

2. Genetics Clinic; Mercy Hospital for Women; Melbourne Australia

3. Natera Inc.; San Carlos CA USA

4. Department of Paediatrics; University of Melbourne; Melbourne Australia

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Reference13 articles.

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2. Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road?;Bianchi;Clin Chem,2014

3. Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population;Fairbrother;Prenat Diagn,2013

4. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing;Bianchi;Obstet Gynecol,2012

5. Copy-number variation and false positive prenatal aneuploidy screening results;Snyder;N Engl J Med,2015

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3. Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results;Genetics in Medicine;2018-09

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