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Obstet Gynecol. 2015 Jun;125(6):1330-7. doi: 10.1097/AOG.0000000000000874.

Cell-free DNA analysis in maternal plasma in cases of fetal abnormalities detected on ultrasound examination.

Author information

1
Service de Gynécologie-Obstétrique et Médecine de la Reproduction, Hôpital Antoine Béclère, Clamart, France; Université Paris Sud, Paris, France; Laboratoire CERBA, Saint-Ouen l'Aumône, France; Gynécologie-Obstétrique, Hôpital Bicêtre, Le Kremlin-Bicêtre, France; Centre de Diagnostic Prénatal, Hôpital Américain de Paris, Neuilly-sur-Seine, France; Gynécologie-Obstétrique, SIHCUS-CMCO, Schiltigheim, France; Gynécologie-Obstétrique, Centre Hospitalier René Dubos, Pontoise, France; Centre de Diagnostic Prénatal, Centre Hospitalier Régional Universitaire, Lille, France; and Inserm, Le Kremlin-Bicêtre, France.

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.

PMID:
26000504
DOI:
10.1097/AOG.0000000000000874
[Indexed for MEDLINE]

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