OBJECTIVE: To evaluate the utility of noninvasive prenatal testing using cell-free circulating fetal DNA for detection of the three main @entity2241 in the setting of ultrasonographically identified fetal anomalies. METHODS: Nine hundred @entity1 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 @entity2008 and @entity8338 . 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 @entity1 with @entity2241 by ultrasonography, the rate of pathogenic chromosome abnormalities missed by cell-free DNA was 8%. Noninvasive prenatal testing should not be offered to @entity1 with @entity2241 because a negative result is falsely reassuring. LEVEL OF EVIDENCE: III.

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

@entity1 :: ('9606', 'Species') :: ['women', 'patients'] @entity2008 :: ('MESH:D002869', 'Disease') :: ['sex chromosome abnormalities'] @entity8338 :: ('MESH:D057885', 'Disease') :: ['triploidy'] @entity2241 :: ('MESH:D005315', 'Disease') :: ['fetal abnormalities', 'autosomal fetal trisomies']
@entity2241 :: (MESH:D005315,Disease) :: ['fetal abnormalities']
