This was a termination of pregnancy at 18 weeks gestation with a male fetus with multiple congenital anomalies, including a complex craniofacial defect and a complete amelia of left lower… Click to show full abstract
This was a termination of pregnancy at 18 weeks gestation with a male fetus with multiple congenital anomalies, including a complex craniofacial defect and a complete amelia of left lower extremity, which has been amputated during embryonic development by amniotic bands (Figure 1A). Prenatal ultrasound at 12 weeks demonstrated limited calvarial development suggestive of early appearance of fetal anencephaly. The left lower extremity was not visualized. Follow-up ultrasound at 15 weeks confirmed previous findings, including severe anencephaly and complete amelia of the left lower extremity. The right foot showed syndactyly of first and second toes with wide gap between the second and third toes reminiscent of acrodactyly. Placental examination revealed a 0.8-cm amnion cyst attached to the base of the umbilical cord, containing embryonic tissue (Figure 1B and C). Histologic sections from the cyst showed cartilage in segmental organization consistent with an embryonic lower extremity (Figure 1D). Together, the complex fetal anomalies most likely represent amniotic band sequence with the amputated left lower extremity enclosed within an amniotic cyst at the base of the umbilical cord of the placenta. It is important to differentiate between craniofacial anomalies, including anencephaly as a result of amniotic bands and those representing a neural tube defect, since the former do not imply a risk of recurrence in subsequent pregnancies.
               
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