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Table 6 Cases with high risk of combined screening test but low risk NIPT

From: Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

  Maternal serum screening Fetal ultrasound Maternal age (years) Fetal CNV-seq results Fetal karyotypes Pregnancy outcomes
1 N/A Ventriculomegaly, cardiac malformations, pulmonary dysplasia 28 47,XN,+ 13[40%]/46,XN[60%] 47,XY,+ 13[12]/46,XY[74] Termination of pregnancy
2 High risk Imbalance of head-body ratio, double outlet right ventricle, absent left lung 27 Normal 69,XXX Termination of pregnancy
3 Low risk Nasal bone dysplasia 30 Likely benign variation 46,XX,t(11;17)(q21;q23) Continue pregnancy
4 N/A Right aortic arch 36 Likely benign variation 46,XN,inv.(9)(p12q13) Continue pregnancy
5 Low risk Enhanced echo in both kidneys and intestine, pleural effusion 31 Likely benign variation 46,XX,t(12;22)(q24.1;q13) Continue pregnancy
6 Threshold risk Right choroid plexus cyst 28 Likely benign variation 46,XY,1qh+ Continue pregnancy
7 Low risk Normal 40 Normal 46,XX,inv.(19)(p13.3q13.1) Continue pregnancy
8 N/A Normal 36 Normal 46,XY,t(8;16)(q12;q21)mat Continue pregnancy
9 N/A Duodenal atresia 23 Normal 46,XX,t(2;7)(q13;q22) Continue pregnancy
10 N/A Nasal bone absent 38 Normal 46,XY,15 ps+ Continue pregnancy
11 N/A Thickened ventricular wall, small heart size, enlarged liver and spleen 26 Normal 46,XY,21 ps+  
12 Low risk Holoprosencephaly, clearly displayed nasal bones, incontinuity of upper alveolar process 31 Normal Chorionic villus sampling, no karyotyping Termination of pregnancy
13 N/A Ventricular septal defect, hemivertebra, scoliosis 26 Normal Normal Termination of pregnancy
14 N/A Holoprosencephaly, agenesis of corpus callosum, hydrocephalus 33 Normal Normal Termination of pregnancy
15 N/A Absent right lung, Tetralogy of Fallot, hemivertebrae 25 Normal Normal Termination of pregnancy
16 Threshold risk Complete endocardial cushion defect 25 Normal Normal Termination of pregnancy
17 N/A Left ventricular rhabdomyomas, strephenopodia 36 Normal Normal Termination of pregnancy
18 Low risk Left microtia, nasal dysplasia, atresia of nostril 35 Normal Normal Termination of pregnancy
19 N/A Ventricular septal defect, pulmonary artery stenosis, missing pubic bones, hooked hands 33 Normal Normal Termination of pregnancy