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

Zhang, Jinman; Tang, Xinhua; Hu, Jilin; He, Guilin; Wang, Jian; Zhu, Yingting; Zhu, Baosheng

doi:10.1186/s12884-021-03918-y

BMC Pregnancy and Childbirth

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

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ISSN: 1471-2393

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