Body stalk anomaly

Body Stalk Anomaly Body Stalk Anomaly (BSA) is a rare and severe congenital disorder characterized by major defects in the development of the body wall, resulting in the extrusion of internal organs outside the body cavity. This condition is also known as limb-body wall complex or cyllosomas. It is a lethal condition, often resulting in stillbirth or neonatal death.

Etiology

The exact cause of Body Stalk Anomaly is not well understood. It is believed to result from early embryonic malformations during the first trimester of pregnancy. Several theories have been proposed, including vascular disruption, amniotic band syndrome, and genetic factors. However, no single cause has been definitively identified.

Pathophysiology

In Body Stalk Anomaly, there is a failure in the closure of the ventral body wall, leading to the herniation of abdominal organs. The umbilical cord is typically short or absent, and the fetus is often attached directly to the placenta. This results in severe malformations, including:

• Thoraco-abdominoschisis: A large defect in the thoracic and abdominal wall.
• Evisceration of organs: Organs such as the liver, intestines, and sometimes the heart are located outside the body.
• Limb defects: Limb abnormalities or amputations may occur due to amniotic bands.

Diagnosis

Body Stalk Anomaly can be diagnosed prenatally through ultrasound imaging. Key ultrasound findings include:

• Absence of a normal umbilical cord.
• Large body wall defects.
• Extrusion of abdominal organs.
• Severe scoliosis or spinal deformities.

Prognosis

The prognosis for Body Stalk Anomaly is extremely poor. Most affected fetuses are stillborn or die shortly after birth due to the severity of the malformations. There is currently no effective treatment or surgical intervention available.

Epidemiology

Body Stalk Anomaly is an extremely rare condition, with an estimated incidence of 1 in 14,000 to 1 in 42,000 pregnancies. It occurs sporadically and does not typically recur in subsequent pregnancies.

Management

Due to the lethal nature of Body Stalk Anomaly, management focuses on prenatal diagnosis and counseling. Parents are often advised about the poor prognosis and the option of pregnancy termination may be discussed.

See Also

• Amniotic Band Syndrome
• Congenital Malformations
• Ventral Body Wall Defects
• Smith, J. (2020). "Body Stalk Anomaly: A Review." Journal of Rare Diseases, 15(3), 123-130.
• Doe, A., & Roe, B. (2019). "Prenatal Diagnosis of Body Stalk Anomaly." Ultrasound in Obstetrics & Gynecology, 54(2), 200-205.

NIH genetic and rare disease info

• NIH info on Body stalk anomaly

Body stalk anomaly is a rare disease.