Case contributed by Maulik S Patel


G2 P1. 13 weeks of amenorrhea. No complaints

Patient Data

Age: 30 years
Gender: Female

Single live intrauterine fetus corresponding to 12 weeks CRL. Absent skull with irregular-shaped floating brain tissue. Both eyes are present. Stomach at the level of the heart. Four limbs are present.


Absent skull with abnormal brain tissue. Large defect in the cervical spine which was missed in the ultrasound.

Case Discussion

Ultrasound shows exencephaly and left diaphragmatic hernia. The abortus shows an additional external finding of a large cervical spine defect. Dissection of the fetus was not done to confirm the diaphragmatic hernia.

The most commonly missed anomaly is the second anomaly after we have found one. It is because our satisfaction of search is full-filled. In this case, 2nd anomaly was found which was a diaphragmatic hernia but the 3rd anomaly (cervical spine spina bifida) was missed.

Excencephaly is a lethal brain anomaly.

Abortus photos courtesy: treating Dr. Drashti Patel.

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