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Ectopia cordis in a fetus with trisomy 18
Sheng-Wen Shaw1, Po-Jen Cheng, Ho-Yen Chueh
1Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, 5, Fu-Shin Street, Kwei-Shan, Taoyuan 333, Taiwan.
Journal of Clinical Ultrasound : JCU
|March 21, 2006
Summary
Trisomy 18, a common chromosomal condition, can present with severe defects like ectopia cordis. Early ultrasound is crucial for detecting this major abnormality in fetuses with Trisomy 18.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Fetal Abnormalities
Background:
- Trisomy 18 (Edwards syndrome) is the second most frequent autosomal trisomy, accounting for one-third of prenatal chromosomal abnormalities.
- Prenatal screening and diagnosis are vital for identifying chromosomal disorders and associated fetal anomalies.
Observation:
- A case of fetal Trisomy 18 is presented, characterized by thoracoabdominal ectopia cordis detected at 19 weeks' gestation.
- The fetus also showed a rare multiple-marker screening result with elevated maternal serum alpha-fetoprotein.
Findings:
- Thoracoabdominal ectopia cordis was the dominant prenatal sonographic finding in this Trisomy 18 case.
- The combination of ectopia cordis and elevated maternal serum alpha-fetoprotein is a rare presentation in Trisomy 18.
Implications:
- This case highlights the importance of comprehensive fetal thoracoabdominal wall evaluation during early prenatal ultrasounds.
- Early detection of fetal ectopia cordis may indicate Trisomy 18, necessitating further genetic investigation.
- Thorough sonographic assessment is critical for identifying major fetal abnormalities associated with Trisomy 18.