In utero diagnosis of caudal regression syndrome

Abstract

We present a case of caudal regression syndrome (CRS), a relatively uncommon defect of the lower spine accompanied by a wide range of developmental abnormalities. CRS is closely associated with pregestational diabetes and is nearly 200 times more prevalent in infants of diabetic mothers (1, 2). We report a case of prenatally suspected CRS in a fetus of a nondiabetic mother and discuss how the initial neurological abnormalities found on imaging correlate with the postnatal clinical deficits.

Caudal regression syndrome from radiology and clinical perspective: A case series and a proposed new integrated diagnostic algorithm

“…In the first trimester, the fetal crown-rump length (CRL) of CRS fetuses is typically shorter per week than that of normal fetuses, according to reports. It is difficult to diagnose sacral agenesis on ultrasound because the sacrum is not sufficiently calcified before 19 weeks of pregnancy [7] , [8] – 9] . Antenatal diagnosis can be suspected in the first trimester and confirmed in the second trimester of gestation.…”

Intrauterine fetal demise with caudal regression syndrome, a case report

“…Later, sonographic evaluation will yield evidence of a shortened spine with deficits in the lumbar and sacral regions, short femora, and flexion contractures of the lower extremities. 15 If diagnostic uncertainty remains, or further evaluation is necessary, amnioinfusion or MRI may be helpful to better visualize fetal structures. 14,16 In addition to the classic "frog-leg" presentation due to the flexion contractures of the lower extremities, 12 CRS has also been associated with abnormalities of the urinary tract, genitalia, and anorectal area.…”

How to Explore Fetal Sacral Agenesis Without Open Dysraphism: Key Prenatal Imaging and Clinical Implications

“…In types 1 and 2, there is no correlation between the number of missing vertebrae and postnatal outcome. In these forms, a stable midline spinal column provides sacroiliac stability and a greater likelihood of ambulation …”

“…In these forms, a stable midline spinal column provides sacroiliac stability and a greater likelihood of ambulation. 22 For clinicians, caudal regression syndrome refers to a developmental defect including the lower extremities, the sacrum, and the lumbar spine. These severe forms correspond to types 3 and 4 of the Renshaw classification.…”