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中华医学超声杂志(电子版) ›› 2016, Vol. 13 ›› Issue (11) : 835 -839. doi: 10.3877/cma.j.issn.1672-6448.2016.11.008

所属专题: 文献

妇产科超声影像学

早孕期诊断胎儿体蒂异常超声与病理对照研究
陈佩文1, 陈欣林1,(), 杨小红1, 李建华1, 许杨青1, 黄文理1   
  1. 1. 430070 武汉,湖北省妇幼保健院超声诊断科
  • 收稿日期:2016-03-08 出版日期:2016-11-01
  • 通信作者: 陈欣林
  • 基金资助:
    湖北省自然科学基金课题重点项目(2010CDA038)

Comparison of prenatal ultrasound and postmortem findings in fetuses with body stalk anomaly in first trimester

Peiwen Chen1, Xinlin Chen1,(), Xiaohong Yang1, Jianhua Li1, Yangqing Xu1, Wenli Huang1   

  1. 1. Department of Ultrasound Diagnosis, Hubei Maternal and Child Health Hospital, Wuhan 430070, China
  • Received:2016-03-08 Published:2016-11-01
  • Corresponding author: Xinlin Chen
  • About author:
    Corresponding author: Chen Xinlin, Email:
引用本文:

陈佩文, 陈欣林, 杨小红, 李建华, 许杨青, 黄文理. 早孕期诊断胎儿体蒂异常超声与病理对照研究[J]. 中华医学超声杂志(电子版), 2016, 13(11): 835-839.

Peiwen Chen, Xinlin Chen, Xiaohong Yang, Jianhua Li, Yangqing Xu, Wenli Huang. Comparison of prenatal ultrasound and postmortem findings in fetuses with body stalk anomaly in first trimester[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2016, 13(11): 835-839.

目的

探讨早孕期胎儿体蒂异常超声诊断的临床价值。

方法

对2009年1月至2014年7月早孕期在湖北省妇幼保健院超声筛查诊断体蒂异常的17例胎儿超声声像图特征及引产胎儿病理尸检(15例)结果进行对照研究。

结果

早孕期诊断体蒂异常的17例胎儿超声表现与中晚孕期相同:腹壁大的缺损及肿块回声,严重脊柱侧弯,肢体异常,颅面缺损,神经管缺陷和脐带极短或缺失。其中多数胎儿(10例)合并心脏,泌尿系统等畸形。17例体蒂异常胎儿早孕期特有的超声表现:头臀径(CRL)测值评估孕周均小于临床孕周;颈项透明层(NT)增厚11例,胚外体腔持续存在13例。妊娠结局:17例体蒂异常胎儿超声检查后胎儿母亲均选择终止妊娠,15例引产胎儿标本尸检证实与产前超声诊断相符合;畸形分类:Ⅰ型3例,以颅面缺陷为主要特征;Ⅱ型12例,无颅面畸形,腹部-胎盘附着为主要特征,8例伴肢体畸形;2例未行病理尸检。17例体蒂异常胎儿产前超声漏误诊心脏及肢体异常9例。

结论

早孕期系统超声筛查对检出胎儿体蒂异常有重要临床价值,胎儿体蒂异常合并心脏及肢体异常产前超声易漏诊或误诊。

Objective

To explore the value of prenatal ultrasound diagnosis of fetal body stalk anomaly (BSA) in first trimester.

Methods

Seventeen cases with body stalk anomaly diagnosed in first trimester at Department of Ultrasound Diagnosis in Hubei Maternal and Child Health Hospital from 2009 to July 2014 were included in the study. The prenatal sonographic characteristics were analyzed from the seventeen cases with BSA in first trimester, fifteen of whom were compared with the pathological autopsy results.

Results

The ultrasonographic features of BSA in first trimester were the same as the findings in second and third trimesters, including major abdominal wall defect and mass, severe kyphoscoliosis, limb abnormalities, craniofacial defects, neural tube defects, and short umbilical cord. Some of them (10 cases) were associated with other malformations, such as cardiac anomalies, urinary tract anomalies and so on. There are several characteristic ultrasound features for BSA in first trimester, including under-gestational age crown rump length (CRL), increased nuchal translucency (NT), persisted extra-embryonic celomic cavity, and mass outside amniotic cavity. All of seventeen cases choose to terminate pregnancy. Of them, fifteen cases were confirmed by gross pathology. Three cases were type I, which were characterized by the craniofacial defects. Twelve cases were typeⅡ, which were characterized by abdominal placental attachment. Eight cases were associated with limbs defect. Nine cases with fetal heart and lime abnormalities were missed or misdiagnosed.

Conclusions

System ultrasonography screening in first trimester has important clinical value in diagnosing BSA. It is prone to missed diagnosis and misdiagnosis for BSA with abnormalities of fetal heart and limbs in first trimester.

图1~3 孕12+4周体蒂异常胎儿产前超声声像图及引产后大体标本外观图。图1早孕期经阴道二维超声声像图示胎儿严重腹壁缺损,可见肿块回声,肿块内可见肝脏及肠管回声,胚外体腔未消失,肿块位于胚外体腔;图2 能量多普勒示胎儿膀胱两侧的脐动脉,脐带短,紧贴于胎盘;图3 引产胎儿大体标本外观示腹壁缺损,肝脏及肠管位于腹壁外,右下肢细小,脐带短
[1]
Russo R, D′Armiento M, Angrisani P, et al. Limb body wall complex: a critical review and a nosological proposal [J]. Am J Med Genet,1993, 47(6): 893-900.
[2]
Van Allen MI, Curry C, Gallagher L. Limb body wall complex: Ⅰ. Pathogenesis [J]. Am J Med Genet,1987, 28(3): 529-548.
[3]
Daskalakis G, Sebire NJ, Jurkovic D, et al. Body stalk anomaly at 10-14 weeks of gestation [J]. Ultrasound Obstet Gynecol,1997, 10(6): 416-418.
[4]
Mann L, Ferguson-Smith MA, Desai M, et al. Prenatal assessment of anterior abdominal wall defects and their prognosis [J]. Prenat Diagn,1984, 4(6): 427-435.
[5]
Higginbottom MC, Jones KL, Hall BD, et al. The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects [J]. J Pediatr,1979, 95(4): 544-549.
[6]
Jones MC. The spectrum of structural defects produced as a result of amnion rupture [J]. Semin Perinatol,1983, 7(4): 281-284.
[7]
Kalousek DK, Bamforth S. Amnion rupture sequence in previable fetuses [J]. Am J Med Genet,1988, 31(1): 63-73.
[8]
Miller ME, Graham JM Jr, Higginbottom MC, et al. Compression-related defects from early amnion rupture: evidence for mechanical teratogenesis [J]. J Pediatr,1981, 98(2): 292-297.
[9]
Miller ME. Structural defects as a consequence of early intrauterine constraint: limb deficiency, polydactyly, and body wall defects [J]. Semin Perinatol,1983, 7(4):274-277.
[10]
Hunter AG, Carpenter BF. Implications of malformations not due to amniotic bands in the amniotic band sequence [J]. Am J Med Genet, 1986, 24(4): 691-700.
[11]
Palacios J, Rodriguez JI. Limb body wall malformation complex associated with vascular steal [J]. Hum Pathol,1990, 21(8): 875-876.
[12]
Bamforth JS. Amniotic band sequence: Streeter′s hypothesis reexamined [J]. Am J Med Genet,1992, 44(3): 280-287.
[13]
Hartwig NG, Vermeij-Keers C, De Vries HE, et al. Limb body wall malformation complex: an embryologic etiology? [J]. Hum Pathol,1989, 20(11): 1071-1077.
[14]
Hartwig NG, Steffelaar JW, Van de Kaa C, et al. Abdominal wall defect associated with persistent cloaca. The embryologic clues in autopsy [J]. Am J Clin Pathol,1991, 96(5): 640-647.
[15]
Vermeij-Keers C, Hartwig NG, van der Werff JF. Embryonic development of the ventral body wall and its congenital malformations [J]. Semin Pediatr Surg,1996, 5(2): 82-89.
[16]
Moerman P, Fryns JP, Vandenberghe K, et al. Constrictive amniotic bands, amniotic adhesions, and limb-body wall complex: discrete disruption sequenceswith pathogenetic overlap [J]. Am J Med Genet, 1992, 42(4): 470-479.
[17]
Ginsberg NE, Cadkin A, Strom C. Prenatal diagnosis of body stalk anomaly in the first trimester of pregnancy [J]. Ultrasound Obstet Gynecol,1997, 10(6): 419-421.
[18]
Colpaert C, Bogers J, Hertveldt K, et al. Limb-body wall complex: 4 new cases illustrating the importance of examining placenta and umbilical cord [J]. Pathol Res Pract, 2000, 196(11): 783-790.
[19]
Smrcek JM, Germer U, Krokowski M, et al. Prenatal ultrasound diagnosis and management of body stalk anomaly: analysis of nine singleton and two multiple pregnancies [J]. Ultrasound Obstet Gynecol, 2003, 21(4): 322-328.
[20]
Bianchi DW, Crombleholme TM, Alton MED, et al. Fetology: diagnosis and management of the Fetal Patient [M]. Second Edition.United States: McGraw-Hill Professional, 2010: 416-420.
[21]
Giacoia GP. Body stalk anomaly: congenital absence of the umbilical cord [J]. Obstet Gynecol,1992, 80(3 Pt 2): 527-529.
[22]
Van Allen MI, Curry C, Walden CE, et al. Limb-body wall complex: II. Limb and spine defects [J]. Am J Med Genet,1987, 28(3): 549-565.
[23]
Viscarello RR, Ferguson DD, Nores J, et al. Limb-body wall complex associated with cocaine abuse: further evidence of cocaineʹs teratogenicity [J]. Obstet Gynecol,1992, 80(3 Pt 2): 523-526.
[24]
Chan Y, Silverman N, Jackson L, et al. Maternal uniparental disomy of chromosome 16 and body stalk anomaly [J]. Am J Med Genet,2000, 94(4): 284-286.
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