Application of single nucleotide polymorphism array for fetuses with thickened nuchal translucency

doi:10.3969/j.issn.1673-8640.2020.02.011

Abstract

Abstract:

Objective To investigate the application of single nucleotide polymorphism（SNP） array for fetuses with thickened nuchal translucency（NT）. Methods A total of 433 fetuses whose NT thickness was over 2.5 mm at 11-13⁺⁶ weeks of gestation were enrolled and determined by SNP array and multiple quantitation fluorescence polymerase chain reaction（QF-PCR）. The fetuses were classified into 4 groups according to the thickness of NT（2.5-3.4 mm in group A,3.5-4.4 mm in group B,4.5-5.5 mm in group C and ≥5.5 mm in group D）and classified into 2 groups according to whether combined with other ultrasonic abnormalities（simple NT thickening group and combined with other ultrasonic abnormality group）. Results A total of 49 cases（11.32%） of chromosome number abnormalities were determined by multiple QF-PCR,and all of the abnormalities were determined by SNP array except 1 case of chimera. Abnormal chromosome number was 11.55% as a whole,accounting for 4.64%,11.36%,26.42% and 22.2% in group A to group D,respectively. Pathogenic copy number variations（pCNV） were 3.46% as a whole,accounting for 1.0%,4.5%,3.8% and 9.3% in group A to group D,respectively. The rate of chromosome number abnormalities was 9.91%,and that of pCNV was 2.14% in simple NT thickening group. The rate of chromosome number abnormalities was 21.67%,and that of pCNV was 11.67% in combined with other ultrasonic abnormality group. There was no statistical significance for age between pregnant women with pCNV or not. Conclusions The thickness of NT and whether combined with other ultrasonic abnormalities have impact on chromosome number and pCNV variation. The thickness of NT should be cut-off as 3.5 mm.

Key words: Thickened nuchal translucency, Single nucleotide polymorphism array, Multiple quantitation fluorescence polymerase chain reaction, Aneuploidy, Copy number variation

CLC Number:

R446.1

LI Rui, SHI Panlai, WANG Ailing, WANG Jianhong, XIAO Yanhua, KONG Xiangdong. Application of single nucleotide polymorphism array for fetuses with thickened nuchal translucency[J]. Laboratory Medicine, 2020, 35(2): 142-147.

Figures/Tables 5

References 18

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项目	多重QF-PCR	SNP array
数目变异
47,XN,+21	28（6.47）	28（6.47）
47,XN,+18	9（2.08）	9（2.08）
45,XO	5（1.15）	5（1.15）
47,XN,+13	1^*	1^*
47,XXX	1^*	1^*
49,XXXXY	1^*	1^*
47,XXY	1^*	1^*
48,XXY,+21	1^*#	1^*
47,XN,+21;Xp22.31 （6532072-8091350）×3	1^*#	1^*
47,XN,+22/46,XN	0	1^*
48,XY,+8,162hmz, +21/47,XY, 162hmz,+21	1^*#	1^*
合计	49（11.32）	50（11.55）
正常	384	383
结构变异
pCNV	0	15（3.46）
VOUS	0	22（5.08）
UPD	0	1^*
正常	433	395

项目	多重QF-PCR	SNP array
数目变异
47,XN,+21	28（6.47）	28（6.47）
47,XN,+18	9（2.08）	9（2.08）
45,XO	5（1.15）	5（1.15）
47,XN,+13	1^*	1^*
47,XXX	1^*	1^*
49,XXXXY	1^*	1^*
47,XXY	1^*	1^*
48,XXY,+21	1^*#	1^*
47,XN,+21;Xp22.31 （6532072-8091350）×3	1^*#	1^*
47,XN,+22/46,XN	0	1^*
48,XY,+8,162hmz, +21/47,XY, 162hmz,+21	1^*#	1^*
合计	49（11.32）	50（11.55）
正常	384	383
结构变异
pCNV	0	15（3.46）
VOUS	0	22（5.08）
UPD	0	1^*
正常	433	395

组别	例数	染色体数目异常	pCNV阳性
A组	194	9（4.64）	2（1.0）
B组	132	15（11.36）^**	6（4.5）^*
C组	53	14（26.42）^**	2（3.8）^*
D组	54	12（22.20）^**	5（9.3）^*
χ²值		26.564	9.204
P值		0.000	0.016

组别	例数	染色体数目异常	pCNV阳性
A组	194	9（4.64）	2（1.0）
B组	132	15（11.36）^**	6（4.5）^*
C组	53	14（26.42）^**	2（3.8）^*
D组	54	12（22.20）^**	5（9.3）^*
χ²值		26.564	9.204
P值		0.000	0.016

组别	例数	染色体数目异常	pCNV阳性
单纯性NT增厚组	373	37（9.91）	8（2.14）
合并其他超声异常组	60	13（21.67）	7（11.67）
χ²值		7.35
P值		0.007	0.002