Limb-body wall complex

What causes limb-body wall complex?

The exact underlying cause of limb-body wall complex (LBWC) is currently unknown. However, scientist have proposed the following three theories as possible explanations for the condition:

(1) Amniotic bands - LBWC occurs when the amniotic sac (the fluid-filled sac that surrounds the baby) breaks early, leading to the development of amniotic bands. These bands can cause amputations and constrictions in the developing baby. The timing of this event may explain the varying severity from case to case.

(2) Vascular "disruption" - LBWC is caused by a disruption of blood flow in the developing baby. This is a common explanation for certain types of birth defects, especially limb abnormalities.

(3) Abnormal embryonic folding - Early in development, the embryo folds to ensure the proper development and placement of different body parts and organs. If this event doesn't take place or if the embryo folds abnormally, it could lead to the various signs and symptoms associated with LBWC.

The majority of cases are considered to be sporadic, regardless of underlying cause and recurrence risk is considered to be low; however, there is at least one case reported in the medical literature of a woman having two different pregnancies with LBWC.

Recently, some authors have proposed a potential genetic origin of LBWC involving mutations in genes related to laterality (left or right side of the body) and caudal development (the lower half of the body). More genetic studies on infants with LBWC are needed to prove this connection.

Last updated on 05-01-20

How is limb-body wall complex diagnosed?

A diagnosis of limb-body wall complex (LBWC) is based on the presence of characteristic signs and symptoms. These features are often seen on prenatal ultrasound or during a physical examination shortly after birth.

Last updated on 05-01-20

How could limb-body wall complex be present in one twin-but not in the other?

While all pregnancies have a background risk for congenital anomalies, twin pregnancies have an increased risk. It is estimated that congenital anomalies occur in about 10% of monozygotic twins. When one twin has an anomaly that is not present in the other, it is known as discordance. There are many theories regarding how discordance might occur in twins. Some propose that the twinning process itself might be involved, while others suspect there might be disruptions in shared placental circulation. One theory suggests that early amniotic rupture leads to the formation of amniotic bands. No single theory seems to be widely accepted or to explain the range of anomalies seen in monozygotic twin pregnancies.

We were not able to locate an estimate of how often twin pregnancies are discordant for limb-body wall complex; however, we did locate an article that described two cases in the literature with discordance. One case was a dizygotic twin pregnancy. The zygosity of the other case was not reported.

Last updated on 05-01-20

What is limb-body wall complex (LBWC)?

Limb-body wall complex (LBWC) is a condition characterized by multiple, severe congenital abnormalities in a fetus. It typically results in openings in the anterior body wall (chest and belly) and defects of the limbs (arms and legs). Other features of LBWC may include facial clefts; a short or missing umbilical cord; scoliosis; neural tube defects; and abnormalities of the urogenital organs (i.e. kidney, bladder, and/or genitals). The exact cause of LBWC is unclear. Unfortunately, there is no cure for LBWC and it is considered to be incompatible with life (fatal). The majority of affected pregnancies end in fetal demise.

Last updated on 05-01-20

Have there been any documented surviving cases of limb body-wall complex (LBWC)?

Limb-body wall complex is generally considered to be incompatible with life (fatal). However, there are at least two reported cases of people with this condition who have survived. Click on the links below to read a summary of each article.

Gazolla AC, da Cunha AC, Telles JA, Betat Rda S, Romano MA, Marshall I, Gobatto AM, de H Bicca AM, Arcolini CP, Dal Pai TK, Vieira LR, Targa LV, Betineli I, Zen PR, Rosa RF. Limb-body wall defect: experience of a reference service of fetal medicine from Southern Brazil. Birth Defects Res A Clin Mol Teratol. 2014 Oct;100(10):739-49.
http://www.ncbi.nlm.nih.gov/pubmed/24975578

Kanamori Y, Hashizume K, Sugiyama M, Tomonaga T, Takayasu H, Ishimaru T, Terawaki K, Suzuki K, Goishi K, Takamizawa M. Long-term survival of a baby with body stalk anomaly: report of a case. Surg Today. 2007;37(1):30-3.
http://www.ncbi.nlm.nih.gov/pubmed/17186342

Last updated on 05-01-20

How might I find additional articles about limb-body wall complex (LBWC)?

You can find relevant articles on LBWC through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using "limb body wall complex" as your search term should help you locate articles. Use the advanced search feature to narrow your search results.

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.

Last updated on 05-01-20

What is the earliest gestational age that a fetus can be diagnosed by ultrasound with limb-body wall complex?

Prenatal ultrasound can detect limb-body wall complex (LBWC) as early as the first trimester (usually by the end of the first trimester). The majority of cases discussed in the medical literature have been diagnosed in the second or third trimester. In a 2014 report of a diagnosis made in the first trimester, the authors stated that a combination of two- and three- dimensional ultrasounds was useful for establishing the diagnosis and differentiating from other abdominal wall defects.

The hallmarks of LBWC on prenatal ultrasound include:

  • thoracoschisis (fissure of the thoracic wall) and/or abdominoschisis (fissure of the abdominal wall)
  • neural tube defects
  • severe scoliosis (curvature of the spine)
  • positional deformities (abnormalities caused by a fetal environment that restricts fetal movement or causes significant fetal compression)
  • abnormality of fetal membranes

Generally, the diagnosis is based on the presence of any 2 of the following 3 features:

  • exencephaly (when the brain is outside of the skull) and/or encephalocele (sac-like protrusion of the brain and its membranes through an opening in the skull) with facial clefts (openings or gaps in the face)
  • thoracoschisis and/or abdominoschisis
  • limb defects

Unfortunately, LBWC is considered incompatible with life (it is fatal). The majority of affected pregnancies end in fetal demise. Due to the poor prognosis, early prenatal diagnosis is important so pregnancy management options, including termination of pregnancy, can be discussed. Early termination of pregnancy and avoidance of surgical intervention are often recommended. It is important to differentiate LBWC from other anterior abdominal wall defects, such as gastrochisis and omphalocele, because these have a more favorable prognosis compared to LBWC.

Last updated on 05-01-20

What is the long-term outlook for people with limb-body wall complex?

Unfortnately, the long-term outlook (prognosis) for infants affected by limb- body wall complex (LBWC) is poor. LBWC is generally considered to be a lethal condition. Many affected pregnancies end in miscarriage or stillbirth. Most infants who survive the prenatal period pass away shortly after birth.

Last updated on 05-01-20

How might limb-body wall complex be treated?

Unfortunately, there is no cure for limb-body wall complex and it is generally considered to be incompatible with life (fatal).

Last updated on 05-01-20

Healthcare Resources

Fetal Health Foundation

The Fetal Health Foundation has a searchable map of treatment centers for parents who have received a fetal diagnosis such as Limb-body wall complex to find medical experts.

Last updated on 04-27-20

Name: Compassionate Friends P.O. Box 3696
Oak Brook, IL, 60522-3696 , United States
Phone: 630-990-0010 Toll Free: 877-969-0010 Fax : 630-990-0246 Email: nationaloffice@compassionatefriends.org Url: http://www.compassionatefriends.org
Name: Fetal Health Foundation 9786 S Holland Street
Littleton, CO, 80127 , United States
Phone: 303-932-0553 Toll Free: 877-789-4673 Email: info@fetalhealthfoundation.org Url: http://www.fetalhealthfoundation.org/

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