FIRST-TRIMESTER DIAGNOSIS OF MECKEL-GRUBER SYNDROME BY TRANSABDOMINALSONOGRAPHY IN A LOW-RISK CASE

Meckel-Gruber syndrome is a rare autosomal recessive disorder often re sulting in neonatal death within a few hours of life. The condition is usually diagnosed ultrasonographically in the second trimester and ea rlier diagnosis has been mainly confined to high recurrence risk pregn ancies. We describe the earliest non-invasive diagnosis of this condit ion at 12(+2) weeks' gestation in a patient with no previous history u sing transabdominal ultrasound. Pregnancy termination was declined. Su bsequent development of anhydramnios in the mid-trimester resulted in poor fetal visualization. We propose that first-trimester diagnosis of this condition is not only possible but preferable, as normal liquor volume facilitates visualization of fetal anatomy.