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Comparison of first‐tier cell‐free DNA screening for common aneuploidies with conventional publically funded screening
Author(s) -
Langlois Sylvie,
Johnson JoAnn,
Audibert François,
Gekas Jean,
Forest JeanClaude,
Caron André,
Harrington Keli,
Pastuck Melanie,
Meddour Hasna,
Tétu Amélie,
Little Julian,
Rousseau François
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.5174
Subject(s) - medicine , cell free fetal dna , prenatal screening , trisomy , obstetrics , nuchal translucency measurement , aneuploidy , false positive rate , prenatal diagnosis , pregnancy , gynecology , fetus , biology , genetics , chromosome , statistics , mathematics , gene
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.