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Body-stalk anomaly is a rare, severe birth defect involving a large abdominal wall defect and a group of associated malformations. The condition is sometimes referred to by other names, including limb-body wall complex, amniotic band disruption complex, and amnion rupture sequence.
The defect occurs when the abdominal wall fails to form during fetal development. As a result, the baby’s abdominal organs (including the intestines and liver) are located outside of the body and are attached directly to the placenta.
Multiple severe fetal malformations are associated with the condition, including:
- Limb defects
- Deformity of the spine (kyphoscoliosis, where the spine is curved both side to side and front to back)
- Neural tube defects (abnormalities of the brain, spinal cord, or spine)
- Craniofacial defects
- Malformation of the chest wall
- Absent or extremely short umbilical cord
- Pulmonary hypoplasia (incomplete development of the lungs)
- Malformations of the urinary organs (kidneys and bladder) and genitals
- Intestinal atresia (intestines that are completely blocked or closed off)
There is no treatment for body-stalk anomaly.
The malformations that make up body-stalk anomaly are so severe the baby is unable to survive, often due to pulmonary hypoplasia.
In pregnancies involving this birth defect, the result is typically miscarriage, early termination, or stillbirth. In rare cases the newborn may survive for a short time after delivery.
The exact cause of body-stalk anomaly remains unknown.
The condition is rare, with an estimated prevalence ranging from 1 out of every 10,000 to 42,000 pregnancies.
Body-stalk anomaly is typically diagnosed during a routine ultrasound that reveals a severe abdominal wall defect and other structural abnormalities.
A diagnosis of body-stalk anomaly is made if at least two of the following three defects are present:
- A thoracic (chest)/abdominal wall defect
- Limb defects
- Encephalocele (where a portion of the brain protrudes through a hole in the skull) with facial clefts
The ultrasound may also show severe spinal curvature and a short umbilical cord.
An accurate diagnosis is vital to differentiating body-stalk anomaly from other abdominal wall defects that are treatable, such as gastroschisis and omphalocele.
Specialized Evaluation and Prenatal Care
If body-stalk anomaly is diagnosed or suspected during pregnancy, you may be referred to a fetal center for further evaluation. It is very important for you to be seen at a specialty fetal center to confirm the suspected diagnosis.
At Texas Children’s Fetal Center, we arrange for you to visit as quickly as possible for a comprehensive assessment by a team of specialists experienced in the detection, evaluation, diagnosis and treatment of rare fetal conditions, including maternal-fetal medicine physicians (OB/GYNs specializing in high-risk pregnancies), fetal imaging experts, pediatric surgeons, and neonatologists.
Additional testing will be performed using state-of-the-art imaging technologies and techniques, providing detailed views of your baby’s condition for the most accurate diagnosis. Testing may include a high-resolution anatomy ultrasound, an ultra-fast MRI and a fetal echocardiogram (an ultrasound of your baby’s heart).
Our specialists will then meet with you about the results, discuss the prognosis and answer any questions you have, to help you make informed decisions that are right for your family.
Pregnancy and Delivery
Mother and baby will be closely monitored during pregnancy for signs of complications, including miscarriage or premature labor.
We recommend delivery at a center with the expertise and resources to care for high-risk pregnancies and critically ill newborns, including the highest level of neonatal intensive care (NICU).
Patient Support Services
Emotional support is vital for families facing a diagnosis of body-stalk anomaly.
Our Fetal Center patients benefit from:
- Family centered palliative care
- Women’s mental health services for reproductive loss and grief
Why Texas Children’s Fetal Center?
At Texas Children’s Hospital, mother and baby receive the specialized care required for pregnancies involving body-stalk anomaly all in one location.
We offer a compassionate, experienced team of maternal, fetal and pediatric specialists dedicated to caring for rare and complex birth defects, and ongoing support for your family every step of the way.
For more information or to schedule an appointment,
call Texas Children’s Fetal Center at 832-822-2229 or 1-877-FetalRx (338-2579) toll-free.
Our phones are answered 24/7. Immediate appointments are often available.