Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China

Table 2 Case summary of clinically significant chromosomal aberrations by invasive prenatal diagnosis (n = 16)

Case No.	Maternal age	Chromosomal abnormalities	USMs	Outcome
Chromosome disease
1	33	Trisomy 18	HNB, SUA, CPC, EIF	TOP
2	32	Trisomy 21	ANB, SUA, PLSVC, ARSA	TOP
3	34	Trisomy 21	ANB, IUVS	TOP
4	36	Trisomy 21	ANB, MV	TOP
5	29	47,XXY	ANB	TOP
6	27	46,XN,der(13)	SUA, EIF, EB	TOP
7	34	45,X[34]/46,XY[8]	SUA	Liveborn
8	24	47,XXX[3]/46,XX[33]	CPC	Liveborn
9	25	46,X,i(X)(q10)[77]/45,X[16]/47,X,2i(X)(q10)[4]/46,X,del(X)(p10)[3]	MV	TOP
P/LP CNVs
10	24	Deletion: 6p21.1-p12.3 (43,354,944–46,335,169)X1; 2.98 Mb	HNB, SLB	TOP
11	28	Deletion: 17q12 (34,822,492–36,404,104) X1; 1.58 Mb	EK, PRUV	TOP
12	27	Deletion: 18p11.32p11.31 (2,275,728–4,802,274)X1; 2.53 Mb	ANB	TOP
13	28	Deletion: Xp22.33 (1,240,318–3,185,613)X1; 1.95 Mb	HNB	TOP
14	29	Duplication: 22q11.21 (18,640,729–21,465,659)X3; 2.82 Mb	ANB	TOP
15	25	Duplication: 6p25.3p22.1 (867,006–28,132,161)X3; 27.27 Mb	HNB, SUA	TOP
16	34	Mosaicism: 12p13.33p11.1((173,786–33,865,197)X2-3; 33.69 Mb	SLB	TOP

ANB/HNB Absent or hypoplastic nasal bone; ARSA Aberrant right subclavian artery; CNV Copy number variations; CPC Choroid plexus cysts; EB Hyperechogenic bowel; EIF Echogenic intracardiac focus; EK Hyperechogenic kidney; IUVS Intra-abdominal umbilical vein stenosis; MV Mild ventriculomegaly; P/LP Pathogenic or likely pathogenic; PLSVC Persistent left superior vena cava; PRUV Persistent right umbilical vein; SLB Shortened long bone; SUA Single umbilical artery; TOP Termination of pregnancy

ISSN: 1755-8166