Limb-body Wall Complex Research Articles

Prenatal Diagnosis of Limb Body Wall Complex During Nuchal Translucency Ultrasonography: A Case Report

Prenatal Diagnosis of Limb Body Wall Complex During Nuchal Translucency Ultrasonography: A Case Report

An Imperative Role of Fetal Autopsy in Previable Fetuses - ADAM Complex Revisited

Abstract Objective To identify the occurrence of the amniotic deformity adhesions, mutilation (ADAM) complex and imperative role of fetal autopsy in diagnosing this condition. Methods A retrospective descriptive study spanning nine years, from January 2014 to January 2022, was conducted at the Department of Pathology within a tertiary care hospital in South India. The study focused on analyzing the clinical presentation, prenatal ultrasonogram, and morphological features of fetuses with the ADAM complex, limb body wall complex, or amniotic bands. Results Among the 438 fetuses assessed during the study period, five fetuses showed features of the ADAM complex (0.01%). The most frequent gestational age observed was 12–18 weeks and most fetuses were female. The common anomaly encountered was limb defects, followed by abdominal and cranial anomalies. Conclusion The diagnosis of the ADAM complex relies primarily on fetal autopsy to differentiate it from similar conditions like anencephaly or body-stalk anomalies. The pathologist plays a crucial role in understanding the complexities of the ADAM complex. Advanced antenatal imaging and therapies offer potential for prevention through improved counseling.

Decoding the dilemma of antenatal ventral body wall defects: A case report and literature review

We are presenting the case of a rare fetal polymalformative syndrome known as the limb body wall complex (LBWC) and its antenatal diagnosis. The level II Anomaly ultrasound of a primigravida female detected exencephaly, thoracoabdominoschisis, club foot, kyphoscoliosis, fetoplacental adherence, and a deficient umbilical cord, classically described in LBWC. It is imperative for radiologists to be familiar with this rare fatal entity of sporadic occurrence and to differentiate it from other non-lethal counterparts for appropriate maternal counseling and timely termination of pregnancy.

Diagnosticul diferenţial ecografic al defectelor de perete abdominal fetal în primul trimestru de sarcină

Fetal abdominal wall defects (AWDs) refer to a variety of congenital anomalies characterized by the incomplete clo­sure or disruption of the abdominal wall in the early stages of embryonic development. Based on the 2011 Euro­pean Surveillance of Congenital Anomalies (EUROCAT) re­port, the general prevalence of fetal abdominal wall de­fects is documented to be six cases per 10,000 births. AWDs pose significant challenges for prenatal diagnosis and manage­ment. Ultrasound has emerged as an indispensable tool in diagnosing and characterizing various abdominal wall defects early in pregnancy, enabling precise prenatal coun­seling and appropriate antenatal management stra­te­gies. This article provides a general review of the spe­cia­lized literature regarding various types of abdominal wall de­fects, such as omphalocele, gastroschisis, pentalogy of Cantrell, bladder exstrophy, and limb body wall complex, high­lighting the significant sonographic features observed du­ring ultrasound examination. Additionally, differential diag­noses are explored, emphasizing the importance of ac­cu­rately distinguishing between these conditions to en­sure optimal management strategies. This article aims to en­hance the understanding and familiarity of ultrasound prac­ti­tio­ners and obstetricians with the spectrum of fetal ab­do­mi­nal wall defects and their prenatal sonographic ap­pea­rance, thus facilitating improved prenatal care and patients’ counseling.

Limb body wall complex: from diagnosis to prognosis (a case report)

Limb body wall complex: from diagnosis to prognosis (a case report)

Analysis of characteristic features in ultrasound diagnosis of fetal limb body wall complex during 11-13+6 weeks.

Limb body wall complex (LBWC) is a fatal malformation characterized by major defects in the fetal abdominal or thoracic wall, visceral herniation, significant scoliosis or spina bifida, limb deformities, craniofacial deformities, and umbilical cord abnormalities (short or absent umbilical cord). Early diagnosis of this condition is of great clinical significance for clinical intervention and pregnancy decision-making. With the rapid development of fetal ultrasound medicine, early pregnancy (11-13+6 wk) standardized prenatal ultrasound examinations have been widely promoted and applied. To explore the value of prenatal ultrasound in the diagnosis of fetal LBWC syndrome during early pregnancy. The ultrasonographic data and follow-up results of 18 cases of fetal LBWC diagnosed by prenatal ultrasound during early pregnancy (11-13+6 wk) were retrospectively analyzed, and their ultrasonographic characteristics were analyzed. Among the 18 fetuses with limb wall abnormalities, there were spinal dysplasia (18/18, 100%), varying degrees of thoracoschisis and gastroschisis (18/18, 100%), limb dysplasia in 6 cases (6/18, 33%), craniocerebral malformations in 4 cases (4/18, 22%), thickening of the transparent layer of the neck in 5 cases (5/18, 28%), and umbilical cord abnormalities in 18 cases (18/18, 100%), single umbilical artery in 5 cases. Prenatal ultrasound in early pregnancy can detect LBWC as early as possible, and correct prenatal evaluation provides important guidance value for pregnancy decision-making and early intervention.

Amniotic band syndrome and limb body wall complex in Europe 1980-2019.

Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to determine the prevalence of ABS and LBWC in Europe from 1980 to 2019 and to describe the spectrum of congenital anomalies. In addition, we investigated maternal age and multiple birth as possible risk factors for the occurrence of ABS and LBWC. We used data from the European surveillance of congenital anomalies (EUROCAT) network including data from 30 registries over 1980-2019. We included all pregnancy outcomes, including live births, stillbirths, and terminations of pregnancy for fetal anomalies. ABS and LBWC cases were extracted from the central EUROCAT database using coding information responses from the registries. In total, 866 ABS cases and 451 LBWC cases were included in this study. The mean prevalence was 0.53/10,000 births for ABS and 0.34/10,000 births for LBWC during the 40 years. Prevalence of both ABS and LBWC was lower in the 1980s and higher in the United Kingdom. Limb anomalies and neural tube defects were commonly seen in ABS, whereas in LBWC abdominal and thoracic wall defects and limb anomalies were most prevalent. Twinning was confirmed as a risk factor for both ABS and LBWC. This study includes the largest cohort of ABS and LBWC cases ever reported over a large time period using standardized EUROCAT data. Prevalence, clinical characteristics, and the phenotypic spectrum are described, and twinning is confirmed as a risk factor.

Isolated thoracoschisis: Case report and review of the literature

Thoracoschisis is a rare congenital malformation characterized by the herniation of abdominal contents through a chest wall defect. It can occur as an isolated entity or associated with the Limb Body Wall Complex (LBWC) syndrome. The isolated form is the less frequent, with only 6 cases reported in the literature. We report the case of a female neonate with isolated thoracoschisis and review the few cases previously reported.

EP29.07: Antenatal diagnosis: from omphalocele to limb body wall complex

EP29.07: Antenatal diagnosis: from omphalocele to limb body wall complex

EP25.13: An early prenatal diagnosis of limb body wall complex in first trimester with ultrasonography

EP25.13: An early prenatal diagnosis of limb body wall complex in first trimester with ultrasonography

LE SYNDROME DE LIMB BODY WALL COMPLEX A PROPOS DUN CAS ET REVUE DE LA LITTERATURE

Limb body wallcomplex (LBWC) is a rare poly malformative syndrome of unknownorigin, comprising major anomalies of the ventral body wall (thoracoabdominal) associatedwithother anomalies, includingthose of the limbsthatmay range frompositionaldeformity to agenesis, unusualcraniofacial malformations, and a variety of visceral anomalies thatinclude the heart, lungs, and genitourinary system. Twophenotypes are describeddepending on the feto-placentalattachment. We report a case of LBWC diagnosed post partum in a stillbornwith the following malformations: a large anterioromphalocele, spina bifida withmeningocele, and severescoliosis. The lowerlimbsappearedasymmetricalwithbilateral club feetassociatedwithpolydactyly. The stillbirthadheres to the placenta by a very short cord of 3 cm comprising 2 arteries and a vein.

Prenatal diagnosis of acrania/exencephaly/anencephaly sequence (AEAS): additional structural and genetic anomalies.

To analyse additional structural and genetic anomalies in fetuses with acrania/exencephaly/anencephaly sequence (AEAS). A retrospective analysis of 139 fetuses with AEAS diagnosed between 2006 and 2020 in a single tertiary referral ultrasound department. The median gestational age at diagnosis decreased from 15weeks in 2006 to 13weeks in 2020 (- 0.21 per each year; p = 0.009). In 103 fetuses, the defects were limited to the neural tube (NTD) (74.1%), in 36 fetuses (25.9%), there were additional structural non-NTD anomalies. The most common were ventral body wall defects present in 17.8% (23/139), followed by anomalies of the limbs (7.2%; 10/139), face (6.5%; 9/139) and heart (6.5%; 9/139). Genetic anomalies were diagnosed in 7 of the 74 conclusive results (9.5%; 7/74; trisomy 18, n = 5; triploidy, n = 1; duplication of Xq, n = 1). In univariate logistic regression models, male sex, limb anomalies and ventral body wall defects significantly increased the risk of genetic anomalies (OR 12.3; p = 0.024; OR 16.5; p = 0.002 and OR 10.4; p = 0.009, respectively). A significant number of fetuses with AEAS have additional structural non-NTD anomalies, which are mostly consistent with limb body wall complex. Genetic abnormalities are diagnosed in almost 10% of affected fetuses and trisomy 18 is the most common aberration. Factors that significantly increased the odds of genetic anomalies in fetuses with AEAS comprise male sex, limb anomalies and ventral body wall defects.

NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.

Pleiotropy is defined as the phenomenon of a single gene locus influencing two or more distinct phenotypic traits. However, nicotinamide adenine dinucleotide (NAD+) deficiency through diet alone can cause multiple or single malformations in mice. Additionally, humans with decreased NAD+ production due to changes in pathway genes display similar malformations. Here, I hypothesize NAD+ deficiency as a pleiotropic mechanism for multiple malformation conditions, including limb‐body wall complex (LBWC), pentalogy of Cantrell (POC), omphalocele‐exstrophy‐imperforate anus‐spinal defects (OEIS) complex, vertebral‐anal‐cardiac‐tracheoesophageal fistula‐renal‐limb (VACTERL) association (hereafter VACTERL), oculoauriculovertebral spectrum (OAVS), Mullerian duct aplasia‐renal anomalies‐cervicothoracic somite dysplasia (MURCS), sirenomelia, and urorectal septum malformation (URSM) sequence, along with miscarriages and other forms of congenital malformation. The term Congenital NAD Deficiency Disorder (CNDD) could be considered for patients with these malformations; however, it is important to emphasize there have been no confirmatory experimental studies in humans to prove this hypothesis. In addition, these multiple malformation conditions should not be considered individual entities for the following reasons: First, there is no uniform consensus of clinical diagnostic criteria and all of them fail to capture cases with partial expression of the phenotype. Second, reports of individuals consistently show overlapping features with other reported conditions in this group. Finally, what is currently defined as VACTERL is what I would refer to as a default label when more striking features such as body wall defects, caudal dysgenesis, or cloacal exstrophy are not present.

Limb Body Wall Complex: A Case Report

Limb-body wall complex (LBWC) is a rare, congenital defect defined by lateral body-wall defects, limb reduction abnormalities and/or craniofacial defects. The developmental pathogenesis as well as the etiology of LBW complex is controversial and has no sex or familial predilection. The poor prognosis of LBWC necessitates an early antenatal diagnosis. Serum alpha-fetoprotein measurement and ultrasonographic examination is the key to prenatal diagnosis. Prenatally, the abnormal fetoplacental attachment can be detected ultrasonographically by the end of the first gestational trimester. Postnatal, the examination of placenta, umbilical cord and membranes is crucial in confirming the diagnosis of LBWC. The present case is associated with amniotic adhesive bands, thoraco-abdominoschisis, minor encephalocele, and belongs to the category of LBWC with craniofacial defects.

Rare Presentation of Limb–Body Wall Complex in a Neonate: Case Report and Review of Literature

The limb–body wall complex (LBWC) aka body stalk syndrome is an uncommon congenital disorder characterized by severe malformations of limb, thorax, and abdomen, characterized by the presence of thoracoschisis, abdominoschisis, limb defects, and exencephaly. This condition is extremely rare with an incidence of 1 per 14,000 and 1 per 31,000 pregnancies in large epidemiologic studies. Majority of these malformed fetuses end up with spontaneous abortions. We present this rare case with occurrence in a preterm infant of 35 weeks' gestation. Our report highlights majority of the clinical presentations as reported in previous literature, but the significant pathological findings of absent genitalia and malformed genitourinary as well as anorectal malformations make this case presentation an even more rare occurrence. Infant karyotyping was normal male and there is no specific underlying genetic correlation in this condition which has a fatal prognosis.

Genetic and imaging study of a case with multiple malformations: limb body wall complex

The Limb-Wall Complex is a rare and sporadic congenital anomaly characterized by multiple craniofacial and thoracoabdominal malformations as well as involvement of the spine and lower extremities. The etiology is unknown and the chromosomal study is normal, however, it is related to an alteration in the formation of the umbilical cord (short umbilical cord), abdominal placental insertion and persistence of the extraembryonic coelom. This condition causes intracavitary organs to be exposed and adhered to the placenta and consequently also attached to the mother’s uterus. The diagnosis can be made from the first trimester of gestation with a nuchal translucency ultrasound in order to detect this pathology in time and to be able to offer good genetic counseling to the parents, since the prognosis is not favorable

A novel surgical approach to thoracoschisis

Thoracoschisis is a very rare congenital anomaly defined by the herniation of intra-abdominal organs through a defect in the thoracic wall, often associated with defects in the limb-body wall complex. We present a Case of a 33-week gestation female born with thoracoschisis between her left 7th and 8th ribs, with protrusion of her liver, stomach, spleen, small and large intestines. Owing to the amount of herniated organs and loss of abdominal domain, she required a silo placement initially followed by a delayed reduction of her abdominal contents. Due to a lack of abdominal wall musculature at the defect, she required a repair with biologic mesh and negative pressure wound vac therapy. Based on our review, this is the 7th reported Case of isolated thoracoschisis, and the only case with such extensive herniation of abdominal contents. An extensive search revealed only 15 reported cases of thoracoschisis in current literature. Given the rarity of thoracoschisis, we present our case, an approach for repair of a thoracoschisis defect using biologic mesh when primary repair is not feasible, and a review of the current literature.

OEIS Syndrome: Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects

OEIS Syndrome: Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects

VP13.19: Antenatal diagnosis of limb body wall complex: a case report

VP13.19: Antenatal diagnosis of limb body wall complex: a case report

Congenital Abdominal Wall Defects: A Topic Review and a Case Report of a Lethal Polymalformation Syndrome with a Giant Abdominoschisis

Abstract Abdominal wall defects (AWDs) represent a wide spectrum of congenital anomalies which are characterized by a herniation of abdominal organs through a pathologic opening in the abdominal region. The author describes a 29-year-old pregnant woman who was prenatally found to have a living female fetus with a giant omphalocele and a spinal deformation in the lumbosacral region. An evisceration of the abdominal contents into the amnionic cavity was visible. Based on USG findings the limb-body wall complex was suggested. An amniocentesis was performed and a genetic testing identified a chromosome 17q23.1–q23.2 duplication. As the fetal anomaly was considered incompatible with life, a medical termination of the pregnancy was carried out. Postmortem examination of the fetus revealed a huge abdominoschisis with a complete evisceration of the liver, stomach, small and large intestines, spleen, and the right kidney. A severe left-sided scoliosis deformity of the spine with crooked trunk was evident. The gross findings shared the features of omphalocele and limb-body wall complex with no postnatal life expectancy. Most fetal AWDs have poor prognosis. The pathology of these conditions differ greatly and require specific prenatal evaluation and pregnancy management for each entity. Accurate assessment of AWDs will allow the identification of isolated forms with better clinical outcomes compared to associated multiple malformations with chromosomal anomalies or genetic syndromes.