诊断学理论与实践 ›› 2023, Vol. 22 ›› Issue (01): 31-36.doi: 10.16150/j.1671-2870.2023.01.005
收稿日期:
2023-03-01
出版日期:
2023-02-25
发布日期:
2023-07-06
通讯作者:
徐秋琴
E-mail:xuqiuqin922@163.com
YAN Bing1,2, CHEN Ping2, CAO Yunyun2, XU Qiuqin1()
Received:
2023-03-01
Online:
2023-02-25
Published:
2023-07-06
Contact:
XU Qiuqin
E-mail:xuqiuqin922@163.com
摘要:
目的: 分析产前超声诊断单脐动脉(single umbilical artery, SUA)发生率及合并胎儿结构畸形类型。方法: 回顾性分析2013年1月1日至2022年1月31日连续在苏州大学附属儿童医院行产前超声检查的单胎妊娠胎儿141 577例,以产后检查脐带数目或病理检查为标准,统计单胎SUA的发生率及其合并畸形的情况。结果: 单胎SUA发生率为0.55%(778/141 577),其中单纯性SUA(isolated SUA,iSUA)占60.93%(474/778),非单纯性SUA(non-isolated single umbilical atery,niSUA)为39.07%(304/778)。SUA中,左、右侧脐动脉缺失率分别为51.7%(402/778)、48.3%(376/778)。右侧脐动脉缺失合并畸形百分比高于左侧[44.95%(169/376)比33.58%(135/402)P=0.023 1]。niSUA中,即SUA合并胎儿畸形中,共477例次畸形,其中心血管畸形最常见,占36.27%(173/477),其次为泌尿生殖系统[19.50%(93/477)]、中枢神经系统[11.95%(57/477)]。487例进行了染色体检查,异常率为8.83%(43/487)niSUA胎儿的染色体异常发生率(13.79%,28/203)明显高于iSUA(5.28%,15/284)胎儿(P=0.001 1)。随着SUA合并畸形种数的增加,染色体异常的发生率也不断上升,合并4种及以上畸形胎儿的染色体异常发生率高达37.5%(3/8)。染色体核型异常中以18-三体综合征最常见,占30.23%(13/43)。结论: 单胎SUA发生率为0.55%,SUA合并胎儿畸形占39.07%,其中心血管畸形最常见,占所有畸形例次的36.27%。当超声显示同时存在4种及以上畸形时,其中近40%伴有染色体核型异常。
中图分类号:
闫冰, 陈萍, 曹云云, 徐秋琴. 单脐动脉及合并畸形的产前超声分析[J]. 诊断学理论与实践, 2023, 22(01): 31-36.
YAN Bing, CHEN Ping, CAO Yunyun, XU Qiuqin. Prenatal ultrasound analysis of single umbilical artery and combined malformations[J]. Journal of Diagnostics Concepts & Practice, 2023, 22(01): 31-36.
表1
SUA合并胎儿畸形数目
SUA | n(%) | iSUA | niSUA | χ2 | P | |||
---|---|---|---|---|---|---|---|---|
Combined with single malformation | Combined with 2 malformations | Combined with 3 malformations | Combined with 4 or more malformations | |||||
Left | 402 (51.7) | 267(56.33) | 77(41.62) | 35(49.30) | 17(50.00) | 6(42.86) | 13.03 | 0.0231 |
Right | 376 (48.3) | 207(43.67) | 108(58.38) | 36(50.70) | 17(50.00) | 8(57.14) | ||
Total | 778(100) | 474(60.93) | 185(23.78) | 71(9.12) | 34(4.37) | 14(1.80) |
表2
SUA合并胎儿畸形检出例次分布
SUA | n(%) | Cardiovascular system | Central nervous system | Genitourinary system | Digestive system | Skeletal system | Facial system | Miscellaneous |
---|---|---|---|---|---|---|---|---|
Total | 477(100) | 173(36.27) | 57(11.95) | 93(19.50) | 41(8.60) | 48(10.06) | 16(3.35) | 49(10.27) |
Left | 220(46.12) | 76(43.93) | 27(47.37) | 44(47.31) | 14(34.15) | 24(50) | 10(62.50) | 25(51.02) |
Right | 257(53.88) | 97(56.07) | 30(52.63) | 49(52.69) | 27(65.85) | 24(50) | 6(37.50) | 24(48.98) |
χ2 | 15.204 | 5.337 | 0.456 | 0.804 | 5.323 | 0.057 | 0.767 | 0.019 |
P | 0.000 | 0.025 | 0.582 | 0.379 | 0.024 | 0.882 | 0.454 | 1.000 |
表3
SUA胎儿合并染色体异常
Classification | Karyotype | Total cases[n(%)] | iSUA[n(%)] | niSUA[n(%)] |
---|---|---|---|---|
Chromosome numerical abnormality | 47,XN,+18 | 13(30.23) | 2(13.33) | 11(39.29) |
47,XN,+21 | 1(2.33) | 1(6.67) | 0 | |
47,XXX | 1(2.33) | 1(6.67) | 0 | |
69,XXX | 1(2.33) | 0 | 1(3.57) | |
mos47,XN,+9[16] | 1(2.33) | 0 | 1(3.57) | |
47,XN,+22[14] | 1(2.33) | 0 | 1(3.57) | |
Chromosomal structural abnormality | Chromosome deletion | 11(25.58) | 3(20.00) | 8(28.57) |
Chromosome duplication | 5(11.63) | 2(13.33) | 3(10.71) | |
Chromosomal translocation | 4(9.30) | 3(20.00) | 1(3.57) | |
Chromosome interbrachial inversion | 2(4.65) | 2(13.33) | 0 | |
Chromosomal polymorphism change | 3(6.98) | 1(6.67) | 2(7.14) | |
Total | 43(8.83) | 15(5.28) | 28(13.79) |
表4
SUA胎儿合并畸形与胎儿染色体异常的分布
Chromosome | n(%) | iSUA | niSUA | χ2 | P | |||
---|---|---|---|---|---|---|---|---|
Combined with single malformation | Combined with 2 malformations | Combined with 3 malformations | Combined with 4 or more malformations | |||||
Normality | 444(91.17) | 269(94.72) | 115(89.84) | 40(88.89) | 15(68.18) | 5(62.50) | 27.62 | <0.001 |
Abnormality | 43(8.83) | 15(5.28) | 13(10.16) | 5(11.11) | 7(31.82) | 3(37.50) |
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