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Table 4 Forty five cases with inconsistent karyotyping and CNV-seq results

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

No. Indications for prenatal diagnosis Abnormal karyotypes CNV-seq results Fetal ultrasound Pregnancy outcomes
1 Advanced maternal age 69,XXX 46,XX Fetal growth restrction, tethered spinal cord, ankle joint reflexion, diaphragm expansion Termination of pregnancy
2 Maternal serum screening ES high risk、NIPT low-risk 69,XXX 46,XX Fetal trunk is significantly smaller than the head, left lung absent, double Outlet Right Ventricle Termination of pregnancy
3 NIPT high-risk 47,XXX 46XX[20%]/47XXX[80%] Normal Gave birth to a girl
4 NIPT high-risk 45,X[18]/46,X,i(X)(p10)[34] 45,X,del(Xp11.21-p22.33)52.45mb(73%)/46,XX(27%) Thickened nuchal folder Continue pregnancy
5 NIPT high-risk 45, X 46,XX[11%]/45,X[89%] Fetal growth restrction Termination of pregnancy
6 NIPT high-risk 45,X[53]/47,XXX [5] 45,X Ventricular septal defect Termination of pregnancy
7 Advanced maternal age 45,X[18]/46,X,+mar[24] 45X with possible X structure abnormality Mild bilateral renal hydrops, bilateral ventriculomegaly, slightly larger right heart Termination of pregnancy
8 NIPT high-risk 45,X[19]/46,XY [16] Turner mosaic Bilateral renal pelvis separation Termination of pregnancy
9 NIPT high-risk 45,X[35]/46,XX [9] 45,X Normal Termination of pregnancy
10 Maternal serum screening high risk 47,XYY [7]/46, XY[56] Y chromosome duplication(16.85 Mb) Normal Gave birth to a boy
11 NIPT high-risk 45,X[22]/46,XY [8] Yq11.221-q11.223 deletion(VUS) Bowel echo enhancement Termination of pregnancy
12 Maternal serum screening high risk 45,X[37]/46,XY [7] 4p15.33、Yq11.222-q11.223 deletion(VUS) Normal Termination of pregnancy
13 Childbearing history of gastrodialysis 45,X [10]/46,XX[42] Likely benign variation Left nasal bone dysplasia, right Nasal bone absent Gave birth to a girl
14 NIPT high-risk 45X [5]/46XX Likely benign variation Retract chin and lower lip Continue pregnancy
15 NIPT high-risk 45,X [8]/46,XX[92] Likely benign variation Normal Termination of pregnancy
16 NIPT high-risk 45,X [4]/46,XX[51] Likely benign variation Normal Continue pregnancy
17 Couples are thalassaemia carrier 45,X [10]/46,XY[28] Normal Normal Termination of pregnancy
18 Advanced maternal age 47,XXY[10]46,XY[45] Normal Bilateral renal pelvis separation, bowel echo enhancement Gave birth to a boy
19 NIPT high-risk 45,X[34]/47,XXX[26] Normal Bilateral renal pelvis separation Termination of pregnancy
20 Couples are thalassaemia carrier 45,X [5]/46,XY[40] Normal The fetus is smaller 8 days than gestational week Gave birth to a boy
21 NIPT high-risk 47,XN,+ 21[18]/46,XN[31] 47,XN,+ 21[58%] Small humerus and femoral length, small head circumference Termination of pregnancy
23 NIPT high-risk 47,XX,+ 21[27]/46,XX [8] DS Normal Termination of pregnancy
24 NIPT high-risk 47,XX,+ 18[29] /46,XX [5](GTG) 47,XN,+ 18[78%]/46,XN[22%] Incontinuity of lower part of cerebellar vermis, complete endocardial cushion defect Termination of pregnancy
25 NIPT high-risk 47,XN,+ 15[4]/46,XN[51] Trisomy 15 mosaic (50%) Single umbilical artery Termination of pregnancy
26 NIPT high-risk 47,XY,+ 5[15]/46,XY[47] CNVs benign variation FGR, ventricular septal defect, thickened right ventricular wall, Aorta straddle, enhanced echo of the aortic valve, tricuspid valve and intestinal echo Termination of pregnancy
27 NIPT high-risk 47,XY,+ 13 [5]/46,XY [63] CNVs- Normal Gave birth to a healthy boy
28 Advanced maternal age 47,XY,+ 18 [5]/46,XY [90] CNVs(−) Polyhydramnios Gave birth to a healthy boy
29 NIPT high-risk 47,XN,+mar 12p12.1-p13.33 and 21q11.2-q22.11duplication(pathogenic) Normal Termination of pregnancy
30 Maternal serum screening high risk mos46,X,+mar[23]/45,X [14] Xp11.21-p22.33 deletion 56.8mb and Xq21.31-q28 deletion 64.6mb(pathogenic) Short humerus and femoral length, Ventricular Septal Defect Termination of pregnancy
31 Advanced maternal age 47,XN,+mar 2q11.1-q11.2 duplication(VUS) Bilateral choroid plexus cysts, enhanced bowel echo Lost to follow-up
32 Advanced maternal age 47,XX,+mar 5q21.2-q21.3 duplication, VUS Normal Continue pregnancy
33 Amniotic fluid 46,XN[38] /47,XN,+mar[22] Cord blood 47,XX,+mar [17]/46,XX [17] dup(8q24.22)Likely benign variation Normal Continue pregnancy
34 NIPT: abnormal chromosome 3 number 47,XX,+mar Likely benign variation Short nasal bone Gave birth to a healthy girl
35 Fetal acromphalus 47,XY,+mar [11]/46,XY[31] Likely benign variation Acromphalus, edema Termination of pregnancy
36 Thalassaemia? 47,XX,+mar [13]/46,XX[62] Likely benign variation Normal Gave birth to a healthy girl
37 Advanced maternal age 47,XY,+mar [7]/46,XY[33] Normal Normal Gave birth to a healthy boy
38 NIPT high-risk 46,XN,t(1;13)(q25;?q22)de novo 13q14.3-q21.33 deletion 23.1mb(pathogenic) Normal Termination of pregnancy
39 Childbearing history of deaf children 46,XY,dup(1)(q21.2)? 1q521.2 duplication(VUS) Normal Gave birth to a healthy boy
40 NIPT high-risk 46,X,del(Y)(q11)? Xp22.31-p22.33 duplication VUS Fetal right ventricular wall has strong echo and was thickened Lost to follow-up
41 NIPT high-risk 46,XN,inv.(9)(p12q13)[79] DS mosaic[20%] Normal Lost to follow-up
42 Maternal serum screening high risk, Advanced maternal age 45,X,der(13)t(Y;13)(q11.2?;p10?)[26]/45,X [5] X,del(Y)[75%]/XO[25%] FGR? Termination of pregnancy
43 Maternal serum screening high risk 46,XY[45] XY[60%]/XYY[40%] Right aortic arch Continue pregnancy
44 NIPT high-risk 46,XX[40] XXY
Gene detection:SRY existed, AZF all missing
Male genitalia Gave birth to a healthy boy, 2 years-old
45 NIPT high-risk 46,XY[83] 47,XN,+ 2[23%]/46,XN[77%] Normal Termination of pregnancy