Prenatal Diagnosis of 22q11 Microdeletion Syndrome in 11 Fetuses

doi:10.12280/gjszjk.20220328

Abstract

Abstract: Objective: To improve the understanding of prenatal diagnosis of fetuses with 22q11 microdeletion syndrome (22q11DS). Methods: A retrospective analysis was conducted on the cases of amniotic fluid/umbilical cord blood chromosome karyotype and SNP-array detection in the Prenatal Diagnosis Center of Quanzhou Women’s and Children’s Hospital from January 2017 to July, 2021. The ultrasonic clinical features, genetic etiology and follow-up results of fetuses with 22q11DS were analyzed. Results: A total of 11 cases of 22q11DS were detected by SNP-array analysis, with a detection rate being 0.37%(11/2 958). Five cases performed the parental SNP-array verification, among them, 1 case inherited from the normal father and the other 4 cases were de novo. There were 9 cases with different ultrasound abnormalities including 4 cases of abnormal cardiovascular system, 3 cases of NT thickening, 1 case of bipedal varus and 1 case of duodenal atresia. The other 2 cases showed no obvious abnormality on prenatal ultrasound. Six cases were induced labor; 1 case was lost to follow-up. Four cases chose to continue pregnancy, of which 2 cases were followed up without obvious abnormality, and 2 cases were missed. Conclusions: Fetal with 22q11DS mainly manifest ultrasound structural abnormalities. Further SNP array detection of ultrasound abnormal fetus can improve the detection rate of chromosome microdeletion.

Key words: 22q11 deletion syndrome, Fetus, Ultrasonography, prenatal, Genetic techniques, Polymorphism, single nucleotide, Microarray analysis, Prenatal diagnosis

LI Yan-qing, FU Wan-yu, CHEN Geng-bo, WANG Yuan-bai, JIANG Yu-ying, XIAO Shan-shan, ZHUANG Jian-long. Prenatal Diagnosis of 22q11 Microdeletion Syndrome in 11 Fetuses[J]. Journal of International Reproductive Health/Family Planning, 2023, 42(2): 115-118.

Figures/Tables 1

References 18

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序号	产前诊断指征	SNP-array结果	缺失片段	OMIM 基因	临床意义	家系验证	妊娠结局
1	NT增厚	arr[GRCh37]22q11.21（18，648，855-21，800，471）×1	3.1 Mb	49	致病性	-	失访
2	单脐动脉、左锁骨下动脉迷走	arr[GRCh37]22q11.21（18，648，855-21，800，471）×1	3.1 Mb	49	致病性	-	引产
3	主动脉弓离断、隔离肺	arr[GRCh37]22q11.21（18，648，855-21，800，471）×1	3.1 Mb	49	致病性	-	引产
4（A胎）	室间隔缺损、永存左上腔静脉、左肾肾盂输尿管连接处狭窄	arr[GRCh37]22q11.21（18，916，842-21，800，471）×1	2.8 Mb	42	致病性	新发变异	引产
5	孕妇高龄、双足内翻	arr[GRCh37]22q11.21（18，636，749-21，464，764）×1	2.8 Mb	41	致病性	新发变异	引产
6	十二指肠闭锁、股骨/肱骨小于孕周	arr[GRCh37]22q11.21q11.22（21，804，596-22，962， 962）×1	1.1 Mb	10	致病性	新发变异	引产
7	NT增厚、脉络丛囊肿	arr[GRCh37]22q11.21（20，716，876-21，800，471）×1	1.0 Mb	14	致病性	新发变异	引产
8	NT增厚	arr[GRCh37]22q11.21（20，716，876-21，800，471）×1	1.0 Mb	14	致病性	-	继续妊娠
9	永存左上腔静脉、心室强回声	arr[GRCh37]22q11.21（20，716，876-21，460，641）×1	743.7 kb	13	致病性	-	继续妊娠
10	高龄孕妇	arr[GRCh37]22q11.21（21，059，669-21，800，471）×1	740.8 kb	11	致病性	-	继续妊娠
11	高龄孕妇、不良孕史	arr[GRCh37]22q11.21（21，059，669-21，464，764）×1	405.0 kb	8	致病性	父源性	继续妊娠

序号	产前诊断指征	SNP-array结果	缺失片段	OMIM 基因	临床意义	家系验证	妊娠结局
1	NT增厚	arr[GRCh37]22q11.21（18，648，855-21，800，471）×1	3.1 Mb	49	致病性	-	失访
2	单脐动脉、左锁骨下动脉迷走	arr[GRCh37]22q11.21（18，648，855-21，800，471）×1	3.1 Mb	49	致病性	-	引产
3	主动脉弓离断、隔离肺	arr[GRCh37]22q11.21（18，648，855-21，800，471）×1	3.1 Mb	49	致病性	-	引产
4（A胎）	室间隔缺损、永存左上腔静脉、左肾肾盂输尿管连接处狭窄	arr[GRCh37]22q11.21（18，916，842-21，800，471）×1	2.8 Mb	42	致病性	新发变异	引产
5	孕妇高龄、双足内翻	arr[GRCh37]22q11.21（18，636，749-21，464，764）×1	2.8 Mb	41	致病性	新发变异	引产
6	十二指肠闭锁、股骨/肱骨小于孕周	arr[GRCh37]22q11.21q11.22（21，804，596-22，962， 962）×1	1.1 Mb	10	致病性	新发变异	引产
7	NT增厚、脉络丛囊肿	arr[GRCh37]22q11.21（20，716，876-21，800，471）×1	1.0 Mb	14	致病性	新发变异	引产
8	NT增厚	arr[GRCh37]22q11.21（20，716，876-21，800，471）×1	1.0 Mb	14	致病性	-	继续妊娠
9	永存左上腔静脉、心室强回声	arr[GRCh37]22q11.21（20，716，876-21，460，641）×1	743.7 kb	13	致病性	-	继续妊娠
10	高龄孕妇	arr[GRCh37]22q11.21（21，059，669-21，800，471）×1	740.8 kb	11	致病性	-	继续妊娠
11	高龄孕妇、不良孕史	arr[GRCh37]22q11.21（21，059，669-21，464，764）×1	405.0 kb	8	致病性	父源性	继续妊娠