From the Guidelines
The most likely diagnosis for this 36-year-old pregnant woman is gastroschisis, a congenital abdominal wall defect where the fetal intestines herniate through a defect in the abdominal wall and float freely in the amniotic fluid. The findings of thickened intestinal loops floating in the amniotic sac, combined with oligohydramnios and elevated maternal serum alpha-fetoprotein (MSAFP), strongly support this diagnosis 1. Management should include referral to a maternal-fetal medicine specialist and pediatric surgeon for comprehensive care planning. The patient should deliver at a tertiary care center with neonatal intensive care capabilities and pediatric surgery available. Gastroschisis requires surgical correction shortly after birth, typically involving placement of the intestines back into the abdominal cavity and closure of the defect. The prognosis depends on the condition of the bowel, with most cases having good outcomes after surgical repair. Gastroschisis differs from omphalocele (another abdominal wall defect) in that the herniated organs are not covered by a protective membrane and the defect typically occurs to the right of the umbilical cord rather than at the cord insertion site. This condition is more common in younger mothers and may be associated with intestinal atresia or stenosis due to damage from exposure to amniotic fluid. It is essential to note that the provided evidence on twin-twin transfusion syndrome 1 is not directly relevant to this patient's condition, as gastroschisis is a distinct congenital anomaly. However, the recent study on twin-twin transfusion syndrome and twin anemia-polycythemia sequence 1 provides valuable insights into the diagnostic features of twin-twin transfusion syndrome, which can be useful in differential diagnosis. In this case, the focus should be on managing gastroschisis, and the patient should receive timely and appropriate care to ensure the best possible outcome for both the mother and the fetus. Key considerations in the management of gastroschisis include:
- Referral to a maternal-fetal medicine specialist and pediatric surgeon
- Delivery at a tertiary care center with neonatal intensive care capabilities and pediatric surgery available
- Surgical correction of the defect shortly after birth
- Monitoring for potential complications, such as intestinal atresia or stenosis.
From the Research
Ultrasonography Findings
- The patient's transabdominal ultrasonography reveals a fetus with thickened intestinal loops that are floating freely in the amniotic sac, suggesting a potential fetal anomaly 2, 3.
- The decreased fluid in the amniotic sac is indicative of oligohydramnios, a condition associated with poor pregnancy outcomes 2, 4.
Oligohydramnios
- Oligohydramnios is a severe and common complication of pregnancy, which can be associated with fetal anomalies, premature rupture of membranes (PROM), uteroplacental insufficiency, and other maternal and fetal conditions 2.
- The prevalence of oligohydramnios varies among different populations, with a reported incidence of 0.7% in a study of low-middle income countries 4.
- Oligohydramnios is associated with adverse maternal, fetal, and neonatal outcomes, including stillbirths, neonatal deaths, low birth weight, and preterm births 4.
Diagnostic Imaging
- Ultrasonography is a crucial diagnostic tool for detecting fetal anomalies and oligohydramnios, despite potential limitations in image resolution due to decreased amniotic fluid 3, 5.
- Advanced medical imaging techniques, such as 3D ultrasound computed tomography (3D USCT) and simultaneous PET/MRI, can provide high-resolution images and improve diagnostic accuracy 5.
Management of Oligohydramnios
- The management of oligohydramnios is unclear, and a large prospective study is needed to develop optimal management recommendations, especially for idiopathic oligohydramnios at or near term 6.
- Intensive fetal biophysical surveillance, including frequent ultrasound evaluation, is recommended for patients with oligohydramnios 2.