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CASE REPORT
Year : 2019  |  Volume : 22  |  Issue : 4  |  Page : 226-229

Prenatal sonographic diagnosis of limb body wall complex: A rare lethal fetal anomaly


1 Department of Radiology, College of Medicine, University of Ibadan and University College Hospital, Ibadan, Nigeria
2 Department of Obstetrics and Gynaecology, University College Hospital, Ibadan, Nigeria

Date of Submission13-Sep-2018
Date of Acceptance24-Feb-2019
Date of Web Publication29-Nov-2019

Correspondence Address:
Dr. Oluwasomidoyin Olukemi Bello
Department of Obstetrics and Gynaecology, Urogynaecology Unit, University College Hospital, Ibadan
Nigeria
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DOI: 10.4103/smj.smj_51_18

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  Abstract 


Limb-body wall complex (LBWC) is a rare fatal congenital malformation syndrome. We report a case of sonographically diagnosed LBWC at the gestational age of 28 weeks which was confirmed after delivery. The parents opted for termination of pregnancy. Physical examination postdelivery revealed a large abdominal and thoracic wall defect with the contents protruding outside the body without any covering membrane. The umbilical cord and the eviscerated urinary bladder arose from the midline. In addition, there was the absence of the right upper limb. The baby died few minutes after the delivery. Early antenatal sonological diagnosis is necessary so that the parents can make an informed decision on the options of continuation or termination of pregnancy. Therefore, expertise in prenatal detection of congenital anomalies is invaluable in antenatal care.

Keywords: Early diagnosis, limb-body wall complex, sonography


How to cite this article:
Akinmoladun JA, Bello OO. Prenatal sonographic diagnosis of limb body wall complex: A rare lethal fetal anomaly. Sahel Med J 2019;22:226-9

How to cite this URL:
Akinmoladun JA, Bello OO. Prenatal sonographic diagnosis of limb body wall complex: A rare lethal fetal anomaly. Sahel Med J [serial online] 2019 [cited 2019 Dec 15];22:226-9. Available from: http://www.smjonline.org/text.asp?2019/22/4/226/272144




  Introduction Top


Limb-body wall complex (LBWC) also known as body stalk anomaly, is a rare complicated lethal fetal malformation syndrome with a prevalence of between 1 in 14,000 and 1 in 42,000 pregnancies in large epidemiological studies in Hawaii and Scotland, respectively.[1],[2] The essential features are usually neural tube defects with or without facial clefts, thoracoschisis and/or abdominoschisis and limb defect. The diagnosis is based on the presence of two out of the three features above.[2]

This complex malformation has no sex or familial predilection and is invariably fatal.[3] Due to the poor prognosis of LBWC, an early antenatal diagnosis is extremely important to enable the parents decide on options of continuation or termination of pregnancy. Prenatal ultrasound screening is presently the imaging modality of choice used in the diagnosis of LBWC.[4] The first reported case in Nigeria was by Okposio et al. in 2015 who made a misdiagnosis of gastroschisis at gestational age (GA) of 33 weeks, but the neonate was found to have typical characteristics of body stalk syndrome at birth at a GA of 38 weeks.[5] We report a fetus at 28 weeks GA with sonographic features of LBWC which was confirmed post termination of pregnancy.


  Case Report Top


A 32-year-old trader who was G7P2+4 (2 Alive), presented for routine antenatal ultrasound scan in our ultrasound unit. She had no known medical condition and had no child with congenital defect. There was no history of ingestion of herbal or nonprescribed drugs or intake of alcohol or tobacco in any form throughout the duration of the pregnancy.

An ultrasound scan revealed a live male fetus with the derived gestation age of 28 weeks 6 days. The scans also revealed a male fetus with a large abdominal and thoracic wall defect through which the abdominal and thoracic contents herniated into the extra embryonic coelom as shown in [Figure 1]a and [Figure 1]b. The eviscerated organs formed a complex, bizarre appearing mass, and consist of the heart, the liver, the stomach, bowel loops, and the urinary bladder as shown in [Figure 2]a and [Figure 2]b. There was evidence of scoliosis of the thoracic and lumbar spine, but no myelomeningocele was seen [Figure 3]. While the fetal head circumference was normal for GA, the thoracic and abdominal diameters were disproportionately reduced. There were no anomalies seen at the fetal eyes, facial profile, palate, lips, and neck. The placenta was anterior and separated from the fetus [Figure 2]a. The amniotic fluid was adequate for GA [Figure 1]. An assessment of LBWC was made.
Figure 1: (a and b) The fetus with the absence of the thoracic and abdominal walls (arrows) and the contents (star) seen floating within the amniotic fluid (up-down arrow). Also shows the gender of the fetus - male (elbow arrow connector)

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Figure 2: (a and b) The complex, bizarre appearing mass that consists the different eviscerated organs; the heart (curved arrow), the bowel loops (thin arrow), the stomach (star) the liver (block arrow), and the urinary bladder (double arrow). The placenta (circle) is seen anteriorly, separate from the fetus

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Figure 3: Severe kyphosis of the thoracolumbar spine (block arrow) and a very narrow abdominal cavity (thin arrow)

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The patient and her partner were informed of the poor prognosis of the anomaly and after counseling; they decided to terminate the pregnancy. She was admitted the following day and had an emergency cesarean section at a GA of 28 weeks because of the history of two previous cesarean deliveries and was delivered of a live male fetus. There was a large abdominal and thoracic wall defect with the contents seen outside the body without any covering membrane. The urinary bladder was also eviscerated in the midline. The umbilical cord was long and arose from the midline as revealed in [Figure 4]a and [Figure 4]b. In addition, there was an absence of the right upper limb [Figure 4]b which was not noticed during the ultrasound scan. LBWC was then confirmed. The baby, however, died few minutes after the delivery. An autopsy was not performed because the parents did not consent.
Figure 4: (a and b) The baby postdelivery confirming the evisceration of the heart, liver, stomach, large and small bowel loops, and urinary bladder. The defect appears to be a right lateral one with the umbilical cord arising from the midline. The absence of the right upper limb is also noticed

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A written informed consent was obtained from the parents for the publication of this case report and the accompanying images.


  Discussion Top


LBWC also known as Body stalk anomaly, is a sporadic, lethal abnormality with a reported incidence of 1 in 14,000–42,000 pregnancies.[1],[2] The incidence at birth is, however, lesser and it is about 0.2–0.3/100,000 live births because the majority of the affected fetuses undergo intrauterine deaths.[3] The pathogenesis is uncertain, but three pathogenetic mechanisms have been proposed which are: abnormal folding of the trilaminal embryo during the first 4 weeks of development, early amnion rupture with amniotic band syndrome, and early generalized compromise of embryonic blood flow.[4] The anomaly can be classified into two based on the malformation phenotypes. Type I is based on craniofacial defect whereas Type II is recognized based on the ventral wall defects.[3],[4] The case discussed is that of the ventral wall defect.

Many authors consider LBWC and body stalk anomaly to be the same entity and both are used interchangeably.[1],[2],[3] Some authors, however, consider body stalk anomaly as a form of amniotic band syndrome characterized by abdominal wall defects, an absent or short umbilical cord with the eviscerated abdominal contents attached to the placenta and sharp angulation of the spine but not associated with craniofacial malformations or limb anomalies. While LBWC is said to be characterized by lateral body wall defects, limb anomalies, and/or craniofacial defects.[6],[7] In this write-up, we consider the two as the same, although the clinical findings agree more with those of LBWC, especially due to the lateral body wall defect, the long umbilical cord, the nonattachment of the eviscerated abdominal contents to the placenta and the presence of limb abnormality.

Usually, fetuses with LBWC have normal karyotype with a very low chance of recurrence in subsequent pregnancies.[6],[7] Some risk factors have, however, been reported for the development of LBWC and these include tobacco, cocaine, nicotine or marijuana use, or abuse.[8] None of these was elicited in the mother of the fetus presented. The condition is said to affect both sexes but is more common in males.[7] The fetus in the case was a male.

The diagnosis is usually made prenatally by ultrasound scan in the first half of pregnancy,[3] but the index case was diagnosed at 28 weeks with the aid of a two-dimensional ultrasound machine. The ultrasound was performed in the second half of the pregnancy because the mother did not present early. Conventionally, the diagnosis has been based on Van Allen et al.[9] criteria, that is, the presence of any two of the three following anomalies: exencephaly or encephalocele with facial clefts, thoraco and/or abdominoschisis, and limb defects. Limb anomalies include club foot, polydactyly, syndactyly, oligodactyly, brachydactyly, and amelia.[9] Other sonographic features include a short or absent or rudimentary umbilical cord and severe kyphoscoliosis.[8] The fetus may be in a fixed position, and there is often complete evisceration of the abdominal contents, which may be adherent to the placental surface. The cord insertion site is not easy to be identified, and no free-floating loops of cord are seen.[6],[8] Oligohydramnios may be present during the second and third trimesters, in which case magnetic resonant imaging may be helpful to elucidate the anatomic structure.[10] The case presented had abdominal and thoracic wall defects with evisceration of the contents. There was associated kyphosis and amelia of the right upper limb. The amniotic fluid was, however, adequate, and the placenta was separate from the fetus.

If available a three-dimensional ultrasound machine could be used which would have demonstrated clearly the absence of the upper limb along with other anomalies which were noticed after delivery in this fetus. This would have further enabled the parents to have a clearer picture and understand the condition.

In view of the fact that LBWC is incompatible with life, it is important to diagnose the condition early in pregnancy to help the parents make an informed decision. Prenatal ultrasound scan in the second trimester does not only confirm the diagnosis but also differentiates it from the other nonlethal dysplasias such as gastroschisis, omphalocele, cloacal dystrophy, and urachal cyst as well as from other lethal polymalformation complexes. Such complexes include pentalogy of Cantrell, omphalocele-exstrophy-imperforate anus-spinal defects, amniotic band sequence, and omphalocele with cloacal–bladder exstrophy complex.[1],[2],[9]

Most pregnancies with LBWC lead to miscarriages, termination of pregnancies, or still births.[7],[11],[12] Death usually occurs due to pulmonary hypoplasia which leads to respiratory failure and severe pulmonary hypertension. Survival of newborn with this condition is quite rare, although there have been cases whereby the baby survived up to 84 days.[11] The pregnancy in this index case was terminated at 28 weeks of gestation and the baby died immediately after delivery.

In conclusion, LBWC is a lethal fetal anomaly that is not compatible with life; therefore, an early antenatal sonographic diagnosis is extremely important in all pregnant women to counsel them on the options of continuation or termination of pregnancy. With early diagnosis, the parents can be counseled on early termination of pregnancy and be reassured of nonrecurrence of the lesion in the future pregnancies.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her and her child's images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Mann L, Ferguson-Smith MA, Desai M, Gibson AA, Raine PA. Prenatal assessment of anterior abdominal wall defects and their prognosis. Prenat Diagn 1984;4:427-35.  Back to cited text no. 1
    
2.
Forrester MB, Merz RD. Epidemiology of abdominal wall defects, Hawaii, 1986-1997. Teratology 1999;60:117-23.  Back to cited text no. 2
    
3.
Russo R, D'Armiento M, Angrisani P, Vecchione R. Limb body wall complex: A critical review and a nosological proposal. Am J Med Genet 1993;47:893-900.  Back to cited text no. 3
    
4.
Daskalakis G, Sebire NJ, Jurkovic D, Snijders RJ, Nicolaides KH. Body stalk anomaly at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1997;10:416-8.  Back to cited text no. 4
    
5.
Okposio MM, Ugwueke TN, Alekwe L. Limb body wall complex: Case report and review of literature. Trop J Med Res 2015;18:113-5.  Back to cited text no. 5
  [Full text]  
6.
Sahinoglu Z, Uludogan M, Arik H, Aydin A, Kucukbas M, Bilgic R, et al. Prenatal ultrasonographical features of limb body wall complex: A review of etiopathogenesis and a new classification. Fetal Pediatr Pathol 2007;26:135-51.  Back to cited text no. 6
    
7.
Chen CP, Lin CJ, Chang TY, Hsu CY, Tzen CY, Wang W, et al. Second-trimester diagnosis of limb-body wall complex with literature review of pathogenesis. Genet Couns 2007;18:105-12.  Back to cited text no. 7
    
8.
Martinez JM, Fortuny A, Comas C, Puerto B, Borrell A, Palacio M, et al. Body stalk anomaly associated with maternal cocaine abuse. Prenat Diagn 1994;14:669-72.  Back to cited text no. 8
    
9.
Van Allen MI, Curry C, Gallagher L. Limb body wall complex: I. Pathogenesis. Am J Med Genet 1987;28:529-48.  Back to cited text no. 9
    
10.
Higuchi T, Sato H, Iida M, Kim SH, Narimatsu Y, Tanaka M, et al. Early second-trimester diagnosis of body stalk anomaly by fetal magnetic resonance imaging. Jpn J Radiol 2013;31:289-92.  Back to cited text no. 10
    
11.
Nascimento Lazaroni TL, Cruzeiro PC, Piçarro C, Victoria ÁM, Botelho Filho FM, Tatsuo ES, et al. Body stalk anomaly: three months of survival. Case report andliterature review. J Pediatr Surg Case Rep 2016;4:22-4.  Back to cited text no. 11
    
12.
Smrcek JM, Germer U, Krokowski M, Berg C, Krapp M, Geipel A, et al. Prenatal ultrasound diagnosis and management of body stalk anomaly: Analysis of nine singleton and two multiple pregnancies. Ultrasound Obstet Gynecol 2003;21:322-8.  Back to cited text no. 12
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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