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Early sonographic diagnosis of fetal midline disruption syndromes
1Department of Obstetrics and Gynecology, Rambam Medical Center, Haifa, Israel.
Insights
This study identified severe fetal malformations, including body wall defects and organ exstrophy, using early transvaginal ultrasound. Findings highlight the potential for detecting complex congenital abnormalities during the first trimester.
Area of Science:
- Prenatal Diagnosis
- Fetal Medicine
- Medical Imaging
Background:
- Severe fetal malformations pose significant challenges in prenatal diagnosis.
- Early identification of congenital abnormalities is crucial for management and counseling.
- Transvaginal ultrasonography offers high-resolution imaging in early gestation.
Purpose of the Study:
- To describe severe fetal body wall defects and associated abnormalities.
- To evaluate the utility of transvaginal ultrasonography in detecting these malformations early.
- To discuss the potential etiology of observed fetal anomalies.
Main Methods:
- Retrospective analysis of six fetuses with severe abnormalities.
- Transvaginal ultrasonography performed between 11 4/7 and 15 weeks' gestation.
- Detailed documentation of fetal anatomy and amniotic sac status.
Main Results:
- Observed abnormalities included acrania, kyphoscoliosis, neural tube defects, ectopia cordis, diaphragmatic hernia, and ventral wall defects with exstrophy.
- Abdominal contents (intestine, liver, kidneys) were found outside the body in some cases.
- Amniotic sac status varied, with normal, undefined, or compromised sacs noted.
Conclusions:
- Transvaginal ultrasonography is effective for early detection of severe fetal body wall defects.
- The observed malformations suggest complex developmental disruptions.
- Further research into the etiology of these severe congenital anomalies is warranted.
Abstract:
This is a study of different severe fetal body wall defects and other abnormalities which were observed by transvaginal ultrasonography in six fetuses at 11 4/7 to 15 weeks' gestation. The main abnormalities were acrania, kyphoscoliosis, neural tube defect, ectopia cordis, diaphragmatic hernia, and ventral wall defect with exstrophy of the intestine, liver, and kidneys. A normal amniotic sac was noted in three cases. In one case, the amniotic sac could not be defined and in the other two cases, some of the abdominal contents were located outside the amniotic sac. The possible aetiology of these fetal malformations is discussed.