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Prenat Diagn. 2017 Dec;37(12):1238-1244. doi: 10.1002/pd.5174. Epub 2017 Nov 21.

Comparison of first-tier cell-free DNA screening for common aneuploidies with conventional publically funded screening.

Author information

1
Dept. of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
2
Dept. of Obstetrics & Gynecology, University of Calgary, Calgary, Alberta, Canada.
3
Dept. of Obstetrics and Gynecology, Université de Montréal, Montreal, Quebec, Canada.
4
Dept. of Medical Genetics and Pediatrics, Faculty of Medicine, Laval University, Québec City, Quebec, Canada.
5
Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Laval University, Québec City, Quebec, Canada.
6
Human and Molecular Genetics Research Unit, Research Center, CHU de Québec, Quebec City, Quebec, Canada.
7
School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, Ottawa, Ontario, Canada.

Abstract

OBJECTIVE:

This study evaluates the impact of offering cell-free DNA (cfDNA) screening as a first-tier test for trisomies 21 and 18.

METHODS:

This is a prospective study of pregnant women undergoing conventional prenatal screening who were offered cfDNA screening in the first trimester with clinical outcomes obtained on all pregnancies.

RESULTS:

A total of 1198 pregnant women were recruited. The detection rate of trisomy 21 with standard screening was 83% with a false positive rate (FPR) of 5.5% compared with 100% detection and 0% FPR for cfDNA screening. The FPR of cfDNA screening for trisomies 18 and 13 was 0.09% for each. Two percent of women underwent an invasive diagnostic procedure based on screening or ultrasound findings; without the cfDNA screening, it could have been as high as 6.8%. Amongst the 640 women with negative cfDNA results and a nuchal translucency (NT) ultrasound, only 3 had an NT greater or equal to 3.5 mm: one had a normal outcome and two lost their pregnancy before 20 weeks.

CONCLUSIONS:

cfDNA screening has the potential to be a highly effective first-tier screening approach leading to a significant reduction of invasive diagnostic procedures. For women with a negative cfDNA screening result, NT measurement has limited clinical utility.

PMID:
29080223
DOI:
10.1002/pd.5174
[Indexed for MEDLINE]

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