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 |