Careful US examination (not shown) confirmed absence of lower limbs movement. Our main prenatal diagnosis was then caudal regression syndrome, group 2 with tethered cord (as opposed to group 1 with blunt conus medullaris), associated with bilateral lip+palate cleft and double-inlet single ventricle heart.
The patient then chose to terminate the pregnancy.
Fetopathological examination found a normal brain, confirmed the bilateral lip+palate cleft, with normal choanae and normal ears, normal lungs, diaphragm, thymus, oesophagus, levocardy, double inlet single ventricle with malposed great arteries, normal abdominal situs, normal liver, gallbladder, pancreas, spleen.
Confirmed horseshoe kidneys, normal adrenal glands, normal digestive tract, no anorectal malformation, a male fetus and found an additional toes anomaly, with both 2nd toes overlapping the 3rd toes on both sides, which is a mild foot deformity.
No anomaly found on histological examination of various organs, especially no sign of infectious CMV or parvovirus B19 infection.
Images 32 and 33: postmortem X-rays confirmed the L5 + sacral agenesis.