[1]赵一俊,王展,贺晶,等.产前影像学检查诊断胎儿尿道下裂准确性分析[J].临床小儿外科杂志,2023,22(08):719-725.[doi:10.3760/cma.j.cn101785-202306020-004]
　Zhao Yijun,Wang Zhan,He Jing,et al.Diagnostic accuracy of prenatal imaging for fetal hypospadias[J].Journal of Clinical Pediatric Surgery,2023,22(08):719-725.[doi:10.3760/cma.j.cn101785-202306020-004]
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产前影像学检查诊断胎儿尿道下裂准确性分析

《临床小儿外科杂志》[ISSN:1671-6353/CN:43-1380/R] 卷: 第22卷 期数: 2023年08 页码: 719-725 栏目: 专题·出生缺陷产前产后一体化诊治 出版日期: 2023-08-28
Title:
Diagnostic accuracy of prenatal imaging for fetal hypospadias
作者:
赵一俊1;  王展1;  贺晶2;  王正平2;  王军梅3;  楼芬兰4;  董旻岳5;  唐达星1
1. 浙江大学医学院附属儿童医院泌尿外科 国家儿童健康与疾病临床医学中心 国家儿童区域医疗中心, 杭州 310052;
2. 浙江大学医学院附属妇产科医院产科, 杭州 310006;
3. 浙江大学医学院附属妇产科医院超声诊断科, 杭州 310006;
4. 浙江大学医学院附属妇产科医院放射科, 杭州 310006;
5. 浙江大学医学院附属妇产科医院生殖遗传科, 杭州 310006
Author(s):
Zhao Yijun1;  Wang Zhan1;  He Jing2;  Wang Zhengping2;  Wang Junmei3;  Lou Fenlan4;  Dong Minyue5;  Tang Daxing1
1. Department of Urology, Affiliated Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children’s Health, National Regional Medical Center, Hangzhou 310052, China;
2. Department of Obstetrics, Affiliated Women’s Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China;
3. Department of Ultrasonic Diagnosis, Affiliated Women’s Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China;
4. Department of Radiology, Affiliated Women’s Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China;
5. Department of Reproductive Genetics, Affiliated Women’s Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China
关键词:
胎儿; 尿道下裂; 超声检查; 产前; 磁共振成像; 产前诊断
Keywords:
Fetus; Hypospadias; Ultrasonography;  Prenatal; Magnetic Resonance Imaging; Prenatal Diagnosis
DOI:
10.3760/cma.j.cn101785-202306020-004
摘要:
目的 探究产前影像学检查（产前超声和胎儿MRI）诊断胎儿尿道下裂的准确性。方法 本研究为回顾性研究。以2012年3月至2021年3月浙江省产前诊断中心经产前多学科会诊存在胎儿尿道下裂的31名孕妇为研究对象，收集31名孕妇年龄、孕周、产前超声检查结果，以及胎儿MRI影像学特征。结果 31名孕妇产前超声诊断均存在胎儿尿道下裂，孕妇年龄（29.8±4.4）岁，孕周（30.1±3.2）周。孕中期诊断4例，孕晚期诊断27例。31例产前疑似尿道下裂胎儿中，出生后确诊尿道下裂22例，诊断准确率为71.0%。胎儿尿道下裂的产前超声影像学特征如下：①外生殖器"郁金香"征19例（19/31，61.3%）；②外生殖器短小4例（4/31，12.9%）；③外生殖器形态模糊8例（8/31，25.8%）。外生殖器"郁金香"征诊断胎儿尿道下裂的准确率为84.2%（16/19），灵敏度72.7%，特异度66.7%。15名孕妇进一步行胎儿MRI，影像学特征如下：①外生殖器短小10例；②外生殖器"郁金香"征6例；③阴囊分裂4例；④阴茎头部圆钝3例；⑤阴茎腹侧弯曲2例；⑥阴茎阴囊转位1例；⑦性别可辨（女性）1例。胎儿MRI诊断尿道下裂准确率为85.7%（12/14）。1例羊水穿刺提示46，XY，雄激素不敏感综合征，引产后确诊为重度尿道下裂。结论 产前超声是诊断胎儿尿道下裂的常用方法，外生殖器"郁金香"征是常用且准确性较高的超声诊断标准。对于产前超声提示胎儿尿道下裂者，进一步行胎儿MRI可增加产前诊断的准确性。
Abstract:
Objective To explore the diagnostic accuracy of prenatal imaging (prenatal ultrasound & fetal magnetic resonance imaging) for fetal hypospadias.Methods Retrospective review was conducted for 31 pregnant women with prenatally diagnosed hypospadias through multidisciplinary consultations at Zhejiang Prenatal Diagnosis Center from March 2012 to March 2021, including age, gestational week, ultrasound and fetal MRI images.Results Thirty-one pregnant women were diagnosed with fetal hypospadias by prenatal ultrasound with an average age of (29.8±4.4) years and an average gestational week of (30.1±3.2) weeks, including 4 cases in the second trimester and 27 cases in the third trimester.Among them, 22 cases of hypospadias were confirmed postnatally with a diagnostic accuracy of 71.0%.The major ultrasonographic features included ‘tulip sign’ of external genitalia (n=19, 61.3%), short external genitalia (n=4, 12.9%) and ambiguous external genitalia (n=8, 25.8%).The diagnostic accuracy of ‘tulip sign’ for fetal hypospadias was 84.2%(16/19) with a sensitivity of 72.7% and a specificity of 66.7%.Fetal MRI was performed in 15 cases.Major MRI features included short external genitalia (n=10), ‘tulip sign’ of external genitalia (n=6), bifid scrotum (n=4), blunt penile tip (n=3), penile curvature (n=2), penoscrotal transposition (n=1) and gender identification (female, n=1).The accuracy of fetal MRI in prenatal diagnosis of hypospadias was 85.7% (12/14).Result of amniocentesis hinted at 46, XY and androgen insensitivity syndrome.It was confirmed as severe hypospadias after induced labor.Conclusion Ultrasonography is the most common diagnostic procedure for fetal hypospadias.And ‘tulip sign’ is commonly present with a high accuracy.Fetal MRI may boost the accuracy of prenatal diagnosis when prenatal hypospadias is suspected by ultrasonography.

参考文献/References:

[1] Moaddab A, Sananes N, Hernandez-Ruano S, et al.Prenatal diagnosis and perinatal outcomes of congenital megalourethra:a multicenter cohort study and systematic review of the literature[J].J Ultrasound Med, 2015, 34(11):2057-2064.DOI:10.7863/ultra.14.12064.
[2] Nef S, Neuhaus TJ, Spartà G, et al.Outcome after prenatal diagnosis of congenital anomalies of the kidney and urinary tract[J].Eur J Pediatr, 2016, 175(5):667-676.DOI:10.1007/s00431-015-2687-1.
[3] 王金晶, 唐达星.产前分子诊断技术在泌尿系畸形的研究进展[J].中华小儿外科杂志, 2019, 40(8):758-764.DOI:10.3760/cma.j.issn.0253-3006.2019.08.019. Wang JJ, Tang DX.Research advances in prenatal molecular diagnostic techniques for urinary system malformations[J].Chin J Pediatr Surg, 2019, 40(8):758-764.DOI:10.3760/cma.j.issn.0253-3006.2019.08.019.
[4] Morales-Suárez-Varela MM, Toft GV, Jensen MS, et al.Parental occupational exposure to endocrine disrupting chemicals and male genital malformations:a study in the Danish National Birth Cohort study[J].Environmental Health, 2011, 10(1):3.DOI:10.1186/1476-069X-10-3.
[5] 高媛媛, 张兹镇, 张亚.先天性尿道下裂自然病因研究进展[J].临床小儿外科杂志, 2021, 20(1):81-85.DOI:10.12260/lcxewkzz.2021.01.016. Gao YY, Zhang ZZ, Zhang Y.Recent advances in etiology of environmental factors in congenital hypospadias[J].J Clin Ped Sur, 2021, 20(1):81-85.DOI:10.12260/lcxewkzz.2021.01.016.
[6] Epelboym Y, Estrada C, Estroff J.Ultrasound diagnosis of fetal hypospadias:accuracy and outcomes[J].J Pediatr Urol, 2017, 13(5):484.e1-484.e4.DOI:10.1016/j.jpurol.2017.02.022.
[7] 李小花, 张忠路, 刘阿庆, 等.胎儿尿道下裂的超声诊断[J].中国医学影像学杂志, 2017, 25(6):470-473.DOI:10.3969/j.issn.1005-5185.2017.06.017. Li XH, Zhang ZL, Liu AQ, et al.Ultrasonic diagnosis of fetal hypospadias[J].Chin J Med Imaging, 2017, 25(6):470-473.DOI:10.3969/j.issn.1005-5185.2017.06.017.
[8] Society for Maternal-Fetal Medicine (SMFM), Sparks TN.Hypospadias[J].Am J Obstet Gynecol, 2021, 225(5):B18-B20.DOI:10.1016/j.ajog.2021.06.045.
[9] Smulian JC, Scorza WE, Guzman ER, et al.Prenatal sonographic diagnosis of mid shaft hypospadias[J].Prenat Diagn, 1996, 16(3):276-280.DOI:10.1002/(SICI)1097-0223(199603)16:3<276::AID-PD847>3.0.CO;2-R.
[10] Li XH, Liu AQ, Zhang ZL, et al.Prenatal diagnosis of hypospadias with 2-dimensional and 3-dimensional ultrasonography[J].Sci Rep, 2019, 9(1):8662.DOI:10.1038/s41598-019-45221-z.
[11] Meizner I.The ‘tulip sign’:a sonographic clue for in-utero diagnosis of severe hypospadias[J].Ultrasound Obstet Gynecol, 2002, 19(3):317.DOI:10.1046/j.1469-0705.2002.00624.x.
[12] Nemec SF, Kasprian G, Brugger PC, et al.Abnormalities of the penis in utero-hypospadias on fetal MRI[J].J Perinat Med, 2011, 39(4):451-456.DOI:10.1515/jpm.2011.042.
[13] Law KS.Ultrasonographic diagnosis of fetal hypospadias[J].Diagnostics (Basel), 2022, 12(4):774.DOI:10.3390/diagnostics12040774.
[14] Rodríguez Fernández V, López Ramón Y Cajal C, Marín Ortiz E, et al.Accurate diagnosis of severe hypospadias using 2D and 3D ultrasounds[J].Case Rep Obstet Gynecol, 2016, 2016:2450341.DOI:10.1155/2016/2450341.
[15] ?ayan F, ?ayan S.Prenatal diagnosis of penoscrotal hypospadias and review of the literature[J].Turk J Urol, 2013, 39(2):116-118.DOI:10.5152/tud.2013.028.
[16] López Soto á, Bueno González M, Urbano Reyes M, et al.Imaging in fetal genital anomalies[J].Eur J Obstet Gynecol Reprod Biol, 2023, 283:13-24.DOI:10.1016/j.ejogrb.2023.01.035.
[17] Li K, Zhang XD, Yan GH, et al.Prenatal diagnosis and classification of fetal hypospadias:the role and value of magnetic resonance imaging[J].J Magn Reson Imaging, 2021, 53(6):1862-1870.DOI:10.1002/jmri.27519.
[18] Goncalves LF, Hill H, Bailey S.Prenatal and postnatal imaging techniques in the evaluation of disorders of sex development[J].Semin Pediatr Surg, 2019, 28(5):150839.DOI:10.1016/j.sempedsurg.2019.150839.
[19] Bamberg C, Brauer M, Degenhardt P, et al.Prenatal two-and three-dimensional imaging in two cases of severe penoscrotal hypospadias[J].J Clin Ultrasound, 2011, 39(9):539-543.DOI:10.1002/jcu.20832.
[20] Rios LTM, Araujo Júnior E, Nardozza LMM, et al.Prenatal diagnosis of penoscrotal hypospadia in third trimester by two-and three-dimensional ultrasonography:a case report[J].Case Rep Urol, 2012, 2012:142814.DOI:10.1155/2012/142814.
[21] Li XH, Zhou JK, Zhang XH.Prenatal ultrasound diagnosis of chordee without hypospadias[J].J Clin Ultrasound, 2020, 48(2):115-116.DOI:10.1002/jcu.22783.
[22] Finney EL, Finlayson C, Rosoklija I, et al.Prenatal detection and evaluation of differences of sex development[J].J Pediatr Urol, 2020, 16(1):89-96.DOI:10.1016/j.jpurol.2019.11.005.
[23] van Bever Y, Groenenberg IAL, Knapen MFCM, et al.Prenatal ultrasound finding of atypical genitalia:counseling, genetic testing and outcomes[J].Prenat Diagn, 2023, 43(2):162-182.DOI:10.1002/pd.6205.
[24] 祖建成, 雍江, 胡建军, 等.尿道下裂患儿染色体及核型分析[J].临床小儿外科杂志, 2017, 16(6):580-582, 587.DOI:10.3969/j.issn.1671-6353.2017.06.012. Zu JC, Yong J, Hu JJ, et al.Chromosomal and karyotypic testing of hypospadias[J].J Clin Ped Sur, 2017, 16(6):580-582, 587.DOI:10.3969/j.issn.1671-6353.2017.06.012.
[25] 李奎, 颜国辉, 郑伟增, 等.胎儿尿道下裂产前MRI检查的诊断价值分析[J].中华妇产科杂志, 2019, 54(8):548-551.DOI:10.3760/cma.j.issn.0529-567x.2019.08.008. Li K, Yan GH, Zheng WZ, et al.The value of prenatal MRI in the diagnosis of fetal hypospadias[J].Chin J Obstet Gynecol, 2019, 54(8):548-551.DOI:10.3760/cma.j.issn.0529-567x.2019.08.008.

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备注/Memo

收稿日期:2023-06-12。
通讯作者:唐达星,Email:tangdx0206@zju.edu.cn

更新日期/Last Update: 1900-01-01