Imaging Considerations
First Trimester (10-14 weeks)
Major abdominal wall defect, severe kyphoscoliosis and a short umbilical cord. upper part of the fetal body
was in the amniotic cavity, lower part was in the celomic cavity. The nuchal translucency thickness above
the 95th centile (71.4%) of the cases. [1]
Mid-trimester:
The ultrasound diagnosis of limb-body wall complex (LBWC) includes 2 of the following 3 features [2]:
1. Limb defects,
2. Anterior body wall defects of the thorax and/or the abdomen and
3. Exencephaly or encephalocoele with/without
facial clefts.
Commonly the LBWC includes [3]:
1. Short, malformed umbilical cord,
2. Abnormal spine with kypho-scoliosis
3. Umbilical vessels embedded in an amniotic sheet
Above. Those with craniofacial defects may present differently compared to those with craniofacial defects
[3].
The anterior abdominal wall and defects of the thorax are typically large. The fetus is usually in a contorted
position and longitudinal views of the spine are difficult to obtain [4].
A number of malformations associated with limb-body wall complex have been described:
Congenital diaphragmatic hernia [5]
Neural tube defects [6]
Omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS)[7]
OEIS is of unknown etiology and is sometimes confused with LBWC but is likely a separate entity. [7]
Amniotic band sequence features may be a part of LBWC.
In addition, overlapping features may be seen among limb-body wall complex and exstrophy of the cloaca
(EC) when the lower abdominal wall fails to close and when there is the occurrence of absent perineal, anal
openings, ambiguous genitalia, along with colon, and renal abnormalities [urorectal septum malformation
sequence (URSMS)]. [7]
The abnormality can be detected by the end of the first trimester. [1,8]
The maternal serum AFP is usually elevated. [9]
1. Body stalk anomaly at 10-14 weeks of gestation.
Daskalakis G, Sebire NJ, Jurkovic D, Snijders RJ, Nicolaides KH
Ultrasound Obstet Gynecol. 1997;10(6):416.
In a multicenter project of screening for chromosomal defects by fetal nuchal translucency thickness and
maternal age at 10-14 weeks, 14 of 106,727 fetuses examined had body stalk anomaly. The
ultrasonographic features were a major abdominal wall defect, severe kyphoscoliosis and a short umbilical
cord. In all cases, the upper part of the fetal body was in the amniotic cavity, whereas the lower part was in
the celomic cavity. The nuchal translucency thickness was above the 95th centile in ten (71.4%) of the
cases, but the fetal karyotype was normal in all 12 fetuses evaluated. The findings suggest that early
amnion rupture before obliteration of the celomic cavity is a possible cause of the syndrome.
AD
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital Medical School, London,
UK.
PMID
9476328
1. Pathol Res Pract. 2000;196(11):783-90.
Limb-body wall complex: 4 new cases illustrating the importance of examining
placenta and umbilical cord.
Colpaert C, Bogers J, Hertveldt K, Loquet P, Dumon J, Willems P.
Department of Pathology, University Hospital Antwerp, Edegem, Belgium.
Limb-body wall complex (LBWC) is a rare, sporadic, congenital defect defined as a
combination of at least two of three characteristics: 1. limb defects, 2.
anterior body wall defects, and 3. exencephaly or encephalocoele with/without
facial clefts. Three pathogenic mechanisms have been proposed: early amnion
rupture, vascular disruption and embryonic dysgenesis. In this study we carried
out the pathological evaluation of four fetuses with LBWC and their placentas.
None of the cases had craniofacial defects. Three fetuses showed an abdominal
wall defect with eventration of abdominal organs, cloacal exstrophy, absent
external genitalia, abnormal internal genitalia, scoliosis and lower limb
defects. One fetus showed failure of closure of both thoracic and abdominal walls
with ectopia cordis, evisceration of left lung and abdominal organs, severe
reduction defect of left arm, but normal colon, anus, bladder, genitalia and
lower limbs. All cases had a short, malformed umbilical cord, incompletely
covered by amnion. The umbilical vessels were embedded in an amniotic sheet which
connected the skin margin of the anterior body wall defect to the placenta. These
anomalies suggest an abnormal body stalk development as a pathogenic mechanism
for LBWC. Prenatally, the abnormal fetoplacental attachment can be detected
ultrasonographically by the end of the first gestational trimester. Postnatally,
the examination of placenta, umbilical cord and membranes is crucial in
confirming the diagnosis of LBWC.
2. Genet Couns. 2007;18(1):105-12.
Second-trimester diagnosis of limb-body wall complex with literature review of
pathogenesis.
Chen CP, Lin CJ, Chang TY, Hsu CY, Tzen CY, Wang W.
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei,
Taiwan. cpc_mmh@yahoo.com
Three fetuses having limb-body wall complex (LBWC) with craniofacial defects and
9 fetuses having LBWC without craniofacial defects were diagnosed and delivered
in the second trimester at Mackay Memorial Hospital during the period January
1990 - May 2006. Cases of LBWC with craniofacial defects showed severe anomalies
of the upper limbs, craniofacial defects, constrictive amniotic bands and
cranioplacental attachment, whereas, cases of LBWC without craniofacial defects
presented major anomalies of the lower limbs, abnormal genitalia, anal atresia,
renal defects, abdominoplacental attachment and umbilical cord abnormalities. The
perinatal findings of LBWC with or without craniofacial defects were compared and
the pathogenesis was discussed.
PMID: 17515306 [PubMed - indexed for MEDLINE]
3. J Matern Fetal Neonatal Med. 2006 Feb;19(2):109-12.
Three-dimensional multiplanar ultrasound in a limb-body wall complex fetus:
clinical evidence for counseling.
Solerte L.
Department of Obstetrics and Gynaecology, Prenatal Diagnosis Unit, Niguarda
Hospital, Milano, Italy. laurasolerte@yahoo.it
A rare dysmorphologic fetal anomaly at the 17th week of gestation was suspected
during a second trimester routine scan for fetal and maternal screening data.
First findings were significant for a severe abdominal wall defect, limb and foot
compromised positions. Fetal biometry was appropriate in biparietal diameter and
head circumference measurements; the long upper bones were normal both for length
and development. The patient was referred to a prenatal unit to complete the
sonographic diagnosis. Two- and three-dimensional sonographic investigations were
performed and techniques were complementary for fetal maldevelopment
specification. Limb-body wall complex with lumbosacral spine torsion and lower
limbs with severely abnormal features were identified. With 2D color Doppler, a
heart defect was confirmed and the umbilical cord was missing from the amniotic
cavity. An invasive procedure by amniocentesis was made to ascertain
alpha-fetoprotein levels and fetal karyotype. Following parental counseling,
pregnancy was terminated and feto-pathological examination confirmed the
sonographic diagnosis. The 17-week fetus affected by limb-body wall complex is
reported herein; 2D and 3D scans of the fetus identified organ displacement due
to a combination of very early events.
PMID: 16581607 [PubMed - indexed for MEDLINE]
4. Genet Couns. 2008;19(3):331-9.
Associated malformations in cases with congenital diaphragmatic hernia.
Stoll C, Alembik Y, Dott B, Roth MP.
Génétique Médicale, Faculté de Médecine, Strasbourg, France.
claude.stoll@medecine.u-strasbg.fr
The etiology of congenital diaphragmatic hernia (CDH) is unclear and its
pathogenesis is controversial. Because previous reports have inconsistently noted
the type and frequency of malformations associated with CDH, we assessed these
associated malformations ascertained between 1979 and 2003 in 334,262 consecutive
births. Of the 115 patients with the most common type of CDH, the posterolateral,
or Bochdalek-type hernia, 70 (60.8%) had associated malformations. These
included: chromosomal abnormalities (n = 21, 30.0%); non-chromosomal syndromes
(Fryns syndrome, fetal alcohol syndrome, De Lange syndrome, CHARGE syndrome,
Fraser syndrome, Goldenhar syndrome, Smith-Lemli-Opitz syndrome, multiple
pterygium syndrome, Noonan syndrome, and spondylocostal dysostosis); malformation
sequences (laterality sequence, ectopia cordis); malformation complexes (limb
body wall complex) and non syndromic multiple congenital anomalies (MCA) (n = 30,
42.9%). Malformations of the cardiovascular system (n = 42, 27.5%), urogenital
system (n = 27, 17.7%), musculoskeletal system (n = 24, 15.7%), and central
nervous system (n = 15, 9.8%) were the most common other congenital
malformations. We observed specific patterns of malformations associated with CDH
which emphasizes the need to evaluate all patients with CDH for possible
associated malformations. Geneticists and pediatricians should be aware that the
malformations associated with CDH can often be classified into a recognizable
malformation syndrome or pattern (57.1%).
PMID: 18990989 [PubMed - indexed for MEDLINE]
Associations, Risk Factors: Disorder associated with NTD
5. Taiwan J Obstet Gynecol. 2008 Jun;47(2):131-40.
Syndromes, disorders and maternal risk factors associated with neural tube
defects (III).
Chen CP.
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei,
Taiwan. cpc_mmh@yahoo.com
Fetuses with neural tube defects (NTDs) may be associated with syndromes,
disorders, and maternal and fetal risk factors. This article provides a
comprehensive review of syndromes, disorders, and maternal and fetal risk factors
associated with NTDs, such as omphalocele, OEIS
(omphalocele-exstrophy-imperforate anus-spinal defects) complex, pentalogy of
Cantrell, amniotic band sequence, limb-body wall complex, Meckel syndrome,
Joubert syndrome, skeletal dysplasia, diabetic embryopathy, and single nucleotide
polymorphisms in genes of glucose metabolism. NTDs associated with syndromes,
disorders, and maternal and fetal risk factors are a rare but important cause of
NTDs. The recurrence risk and the preventive effect of maternal folic acid intake
in NTDs associated with syndromes, disorders and maternal risk factors may be
different from those of nonsyndromic multifactorial NTDs. Perinatal
identification of NTDs should alert the clinician to the syndromes, disorders,
and maternal and fetal risk factors associated with NTDs, and prompt a thorough
etiologic investigation and genetic counseling.
PMID: 17886024 [PubMed - indexed for MEDLINE]
Risk Factors: OEIS Complex
6. Am J Med Genet A. 2007 Sep 15;143A(18):2122-8.
Prenatal ascertainment of OEIS complex/cloacal exstrophy - 15 new cases and
literature review.
Keppler-Noreuil K, Gorton S, Foo F, Yankowitz J, Keegan C.
Division of Medical Genetics, Department of Pediatrics, University of Iowa
Children's Hospital, Iowa City, Iowa 52242, USA. kim-keppler@uiowa.edu
Omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS)
complex or cloacal exstrophy (EC), describes a rare grouping of more commonly
occurring component malformations [Carey et al., 1978]. The etiology is unknown,
but likely heterogeneous. While postnatal identification of its associated
gastrointestinal, spinal, and genitourinary systems delineates the extent and
natural history of OEIS complex, prenatal findings may provide additional
information regarding early detection, possible causative factors, and outcome.
The purposes of this study were to: (1) present the prenatal ascertainment of
OEIS complex in this series of 15 cases identified through several different
sources compared to the literature, and (2) discuss the relationship of these
prenatal findings to possible abnormal developmental mechanisms causing OEIS
complex. These 15 cases indicate that OEIS complex may be difficult to diagnose
prenatally, and that the full extent of abnormalities may not be clear until
postnatal exam. Confusion with limb-body wall complex (two of our cases) and
pentalogy of Cantrell (one of our cases) can occur. Anal/gastrointestinal
malformations and genital ambiguity are under-ascertained. Conversely, prenatal
defects may resolve postnatally, yet may provide clues for pathogenetic
mechanisms. For instance, the finding of nuchal thickening in our three cases
(one reported) suggests vascular/hemodynamic compromise early in embryologic
development, or intrathoracic compression leading to jugular lymphatic
obstruction may play a role. The association of twinning and OEIS complex
suggests they may occur as early as blastogenesis. Our three sets of discordant
twins also suggest a non-genetic etiology for OEIS complex of uteroplacental
insufficiency. This study also indicates that OEIS complex may be more common
than previously thought.
PMID: 17702047 [PubMed - indexed for MEDLINE]
7. Am J Med Genet A. 2007 May 15;143A(10):1025-31.
On the spectrum of limb-body wall complex, exstrophy of the cloaca, and urorectal
septum malformation sequence.
Heyroth-Griffis CA, Weaver DD, Faught P, Bellus GA, Torres-Martinez W.
Department of Medical and Molecular Genetics, Indiana University School of
Medicine, Indianapolis, Indiana 46202-5251, USA. dweaver@iupui.edu
The limb-body wall complex (LBWC) is characterized by abdominal wall and limb
defects, exstrophy of the cloaca (EC) by lack of closure of the lower abdominal
wall and lack of cloacal septation, and the urorectal septum malformation
sequence (URSMS) by absent perineal and anal openings, ambiguous genitalia,
colonic, and renal anomalies. We report here on three fetuses whom have
overlapping features of these disorders. Also we have reviewed the literature for
cases with overlapping features of two or three of the above conditions. From the
description of the cases reported on here and those in the literature, we propose
that the overlap of features found among LBWC, EC, and URSMS represent a
continuous spectrum of abnormalities, rather than three separate conditions. As
such, we suggest that all three conditions may share a common etiology or
pathogenetic mechanism.
PMID: 17431896 [PubMed - indexed for MEDLINE]
8. Pathol Res Pract. 2000;196(11):783-90.
Limb-body wall complex: 4 new cases illustrating the importance of examining
placenta and umbilical cord.
Colpaert C, Bogers J, Hertveldt K, Loquet P, Dumon J, Willems P.
Department of Pathology, University Hospital Antwerp, Edegem, Belgium.
Limb-body wall complex (LBWC) is a rare, sporadic, congenital defect defined as a
combination of at least two of three characteristics: 1. limb defects, 2.
anterior body wall defects, and 3. exencephaly or encephalocoele with/without
facial clefts. Three pathogenic mechanisms have been proposed: early amnion
rupture, vascular disruption and embryonic dysgenesis. In this study we carried
out the pathological evaluation of four fetuses with LBWC and their placentas.
None of the cases had craniofacial defects. Three fetuses showed an abdominal
wall defect with eventration of abdominal organs, cloacal exstrophy, absent
external genitalia, abnormal internal genitalia, scoliosis and lower limb
defects. One fetus showed failure of closure of both thoracic and abdominal walls
with ectopia cordis, evisceration of left lung and abdominal organs, severe
reduction defect of left arm, but normal colon, anus, bladder, genitalia and
lower limbs. All cases had a short, malformed umbilical cord, incompletely
covered by amnion. The umbilical vessels were embedded in an amniotic sheet which
connected the skin margin of the anterior body wall defect to the placenta. These
anomalies suggest an abnormal body stalk development as a pathogenic mechanism
for LBWC. Prenatally, the abnormal fetoplacental attachment can be detected
ultrasonographically by the end of the first gestational trimester. Postnatally,
the examination of placenta, umbilical cord and membranes is crucial in
confirming the diagnosis of LBWC.
PMID: 11186176 [PubMed - indexed for MEDLINE]
9. Prenatal diagnosis and management of anterior abdominal wall defects in the west of Scotland.
Morrow RJ, Whittle MJ, McNay MB, Raine PA, Gibson AA, Crossley J
Prenat Diagn. 1993;13(2):111.
An attempt was made to identify all the cases of abdominal wall defects occurring in the West of Scotland
over a 7-year period to determine the current incidence, prenatal diagnosis, management, and prognosis for
fetuses and neonates with abdominal wall defects. Cases were identified because they presented either for
prenatal diagnosis, or to the Department of Pathology following termination or spontaneous pregnancy loss,
or as neonates to the Neonatal Surgical Department. The incidence of abdominal wall defects was found to
be 1 in 2500 births. Exomphalos was diagnosed before birth in 66 per cent of cases, and in 30 per cent of
cases it was associated with another major abnormality. There was a 20 per cent intact survival in the cases
diagnosed prenatally who had no fetal anomaly and who opted to continue with the pregnancy.
Gastroschisis was diagnosed before delivery in 70 per cent of cases, and in the group who continued with
the pregnancy there was an intact survival of 77 per cent. Body stalk anomalies were all diagnosed
prenatally and terminated. Maternal serum alpha-fetoprotein was elevated in 89 per cent of the cases with
exomphalos and in 100 per cent of the cases with gastroschisis and body stalk anomalies in which it was
tested.
AD
Department of Midwifery, Queen Mother's Hospital, Glasgow, U.K.
PMID
7681976