Can Hirschsprung's disease be detected in the fetus?

Hirschsprung's disease can be detected during the fetal period through prenatal ultrasound or fetal magnetic resonance imaging, but the specific diagnosis still needs to be further confirmed after birth. Fetal testing is usually combined with indirect signal screening such as abnormal amniotic fluid volume and fetal intestinal dilatation. Timely detection can help doctors quickly start treatment after birth.

1) Genetic factors and pathological characteristics

Hirschsprung's disease is a congenital disease caused by abnormal development of neural crest cells and is related to genetic factors such as RET gene mutation. This pathology causes the colon's nervous system to be unable to expand and contract normally, resulting in intestinal obstruction. Usually, neurological defects cannot be directly seen during prenatal examinations, but may be indicated by abnormal fetal intestinal manifestations.

2) The role of prenatal ultrasound

Prenatal ultrasound is a common tool for detecting fetal problems during pregnancy. Fetuses with Hirschsprung's disease may show intestinal dilatation or polyhydramnios on ultrasound. This is because intestinal dysfunction affects the digestive and excretory functions of the fetus, causing the intestinal cavity to accumulate feces and liquids and swell. At the same time, intestinal obstruction may prevent the fetus from swallowing amniotic fluid, resulting in polyhydramnios.

3) Fetal MRI and genetic counseling

In some suspected cases of Hirschsprung's disease, magnetic resonance imaging can help to more clearly observe the fetal intestinal structure, supplementing the limitations of ultrasound. If there is a family history of similar diseases, the doctor may recommend genetic counseling and fetal genetic testing to strengthen the reliability of the diagnosis.

4) Further diagnosis and intervention after birth

Although some abnormalities can be detected in the fetal period, the diagnosis of Hirschsprung's disease usually relies on rectal biopsy after birth to observe the presence of ganglion cells. If confirmed, treatment usually includes surgical resection of the diseased intestinal segment that cannot contract normally. Commonly used surgical methods include Swenson's operation, Duhamel's operation and Soave's operation.

If any signs of pregnancy are found during the fetal period, the patient should be promptly informed of the condition by an obstetrician and neonatal surgeon, and a perinatal management plan should be developed as soon as possible. Finding potential problems through prenatal screening can provide better treatment and care conditions for newborns, effectively improving survival rates and quality of life.