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Chorionic villus sampling in the cell‐free DNA aneuploidy screening era: careful selection criteria can maximise the clinical utility of screening and invasive testing
Author(s) -
Kane Stefan C.,
Reidy Karen L.,
Norris Fiona,
Nisbet Deborah L.,
Kornman Louise H.,
PalmaDias Ricardo
Publication year - 2017
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5026
Subject(s) - chorionic villus sampling , cell free fetal dna , medicine , aneuploidy , obstetrics , retrospective cohort study , sampling (signal processing) , cohort , pregnancy , prenatal diagnosis , genetic testing , gynecology , fetus , biology , pathology , genetics , chromosome , filter (signal processing) , gene , computer science , computer vision
Abstract Objectives To quantify the impact of cell‐free DNA (cfDNA) screening on chorionic villus sampling (CVS) test indications and outcomes in a tertiary maternity service. Methods Retrospective cohort study of all CVS procedures performed for any indication on singleton pregnancies at The Royal Women's Hospital, Melbourne, and at Women's Ultrasound Melbourne, Australia, between August 2008 and February 2015. Karyotypes were classified according to pathogenicity and detectability by standard cfDNA screening panels. Results A total of 2051 CVS procedures, 25 373 twelve‐week scans and 2394 cfDNA tests were performed. The CVS rate per 12‐week scan fell from 9.8 to 3.9% following introduction of cfDNA screening. The yield of pathogenic chromosomal anomalies per CVS increased from 12.9 to 25.2%, with 70% of pathogenic results now comprising T21, up from 52%. Sixteen (5.3%) of the pathogenic chromosomal abnormalities identified on CVS would not have been predicted by current cfDNA tests. Conclusions There is an evolving tension between improved screening performance for common aneuploidies offered by cfDNA testing, and the increasing diagnostic utility of molecular karyotyping. However, the risk of not identifying pathogenic chromosomal abnormalities is low if cfDNA screening is offered in the absence of a structural fetal anomaly, increased nuchal translucency or relevant family history. © 2017 John Wiley & Sons, Ltd.