Identification of chromosomal abnormalities in miscarriages by CNV-Seq

Table 1 Baseline characteristics of cases with chromosomal abnormalities

Characters	Numbers	Proportion (%)	Sum (n)
^AGestation weeks (GW, 9.58 ± 2.93 w)
GW ≤ 12 w	324	90.76	357
12w < GW < 28 w	33	9.24	357
Maternal age (MA, 31.17 ± 4.33 y)
MA ≤ 30 y (27.49 ± 1.60)	154	43.14	357
30 y < MA < 35 y (31.66 ± 1.34)	133	37.25
35y ≤ MA < 40 y (36.41 ± 1.26)	47	13.17
MA ≥ 40 y (41.72 ± 1.61)	23	43.14
^BNumber of cases with variants
Cases with numerical abnormalities	^C243		357
Autosomal trisomy	166	68.31
Autosomal monosomy	2	0.82
Triploidy	24	9.88
Monosomy X	25	10.29
47, XXX/47, XXY	2	0.82
Trisomy 22, 47, XXY	1	0.41
Tisomy 13, 45, X	1	0.41
Mosaicism	21	8.64
Cases with structural abnormalities	^C119
pCNVs	31	26.05
lpCNVs	4
bCNVs	5	4.20
lbCNVs	0	–
VOUS	79	66.39
Variants
Microdeletion	78	16.60	470
Microduplication	141	30.00
Autosomal trisomy	174	37.02
Autosomal monosomy	2	0.43
Sex chromosome aneuploids	28	5.96
Polyploid	26	5.53
Mosaicism	21	4.47
Pathogenic classification
Pathogenic	307	65.32	470
Likely pathogenic	6	1.28
Benign	5	1.06
Likely benign	6	1.28
VOUS	146	31.06

^AMean ± standard deviation
^BIn this part, cases were grouped into cases with numerical abnormalities (aneuploidies, polyploidies and mosaicism) or cases with structural abnormalities (deletions or duplications). Structural abnormalities were classified as pCNVs, lpCNVs, bCNVs, lbCNVs and VOUS according to ACMG guidelines
^COf the 357 cases detected with variants, 5 cases were detected with both numerical abnormalities and structural abnormalities, the 5 cases were represented twice in this table

ISSN: 1755-8166