Ultrasonographic Diagnosis of Fetuses with Pentalogy of Cantrell and Turner Syndrome, Dual Case Reports and Review of Literature

Background: Ultrasound imaging is an effective and routine diagnostic tool for identifying fetal anomalies. The congenital defect of Pentalogy of Cantrell, also known as Thoracoabdominal Ectopia, consists of 5 defects that include a cleft lower sternum, an anterior diaphragmatic defect, and the absence of the parietal pericardium, a connected or separate omphalocele, and a major cardiac anomaly. While rare, this congenital syndrome effects 5.5 of 1,000,000 live births, ultrasound imaging can be useful in identifying this defect in utero. Turner syndrome, or XO syndrome, affects 1 in 2500 to 1 in 3000 live born phenotypic female infants and is caused by a genetic abnormality of a single X chromosome. While characteristics of the syndrome can be observed in childhood, such as webbed neck, broad or pigeon chest, widely spaced nipples, multi-pigmented nevi, valgus of elbows, cardiac malformations and streak ovaries the syndrome often does not become apparent until functional deficits are noticed such as amenorrhea or short stature. While Turner syndrome requires genetic analysis for definitive diagnoses, similar to other congenital defects that are easily identified because of their gross morphological anomalies, ultrasound imaging offers an important tool for identifying XO syndrome. We present two such cases where US imaging was useful in making an early diagnosis of congenital anomalies.