Cell-Free DNA Analysis in Maternal Plasma in Cases of Fetal Abnormalities Detected on Ultrasound Examination. Issue 6 (June 2015)

• Record Type: Journal Article
• Authors: Benachi, Alexandra; Letourneau, Alexandra; Kleinfinger, Pascale; Senat, Marie-Victoire; Gautier, Evelyne; Favre, Romain; Bidat, Laurent; Houfflin-Debarge, Véronique; Bouyer, Jean; Costa, Jean-Marc
• Is Part Of: Obstetrics and gynecology. Volume 125:Issue 6(2015)
• Publication Date: 2015-06
• Subjects: Obstetrics -- Periodicals; Gynecology -- Periodicals; 618
• DOI: 10.1097/AOG.0000000000000874
• Languages: English
• ISSNs: 0029-7844

Abstract

Abstract : OBJECTIVE: To evaluate the utility of noninvasive prenatal testing using cell-free circulating fetal DNA for detection of the three main autosomal fetal trisomies in the setting of ultrasonographically identified fetal anomalies. METHODS: Nine hundred patients at risk for fetal aneuploidy with or without ultrasonography anomalies and who underwent invasive procedures were included in the study. Cell-free DNA analysis was performed by massive parallel sequencing during a multicenter, noninterventional, prospective study and the results were compared with a fetal karyotype. RESULTS: Among all 900 pregnancies, cell-free DNA identified 76 of 76 (100%) fetal Down syndrome, 22 of 25 (88%) trisomy 18, and 12 of 12 (100%) trisomy 13. In those with a normal ultrasonogram and normal cell-free DNA analysis, karyotype identified 2 of 483 (0.4%) additional aneuploidies other than trisomies 13, 18, and 21. In those with an abnormal ultrasonogram and a normal cell-free DNA analysis, there were 23 of 290 (7.9%) additional pathogenic karyotypes. These additional aneuploidies included sex chromosome abnormalities and triploidy. The rates of additional aneuploidies not identifiable by standard cell-free DNA screening in the two groups is significantly different at P <.01. CONCLUSION: In women with fetal abnormalities by ultrasonography, the rate of pathogenic chromosome abnormalities missed by cell-free DNA was 8%. Noninvasive prenatal testing should not be offered to women with fetal abnormalities because a negative result is falsely reassuring. LEVEL OF EVIDENCE: III Abstract : Noninvasive prenatal testing should not be offered in cases of abnormal ultrasound findings because a negative result could be falsely reassuring.Supplemental Digital Content is Available in the Text.