Meckel-Grüber syndrome: sonography and pathology

Area of Science:

• Medical imaging
• Fetal medicine
• Genetics

Background:

• Meckel-Grüber syndrome (MGS) is a severe autosomal recessive developmental disorder.
• Prenatal diagnosis of MGS is crucial for genetic counseling and management.
• Specific sonographic markers can aid in early detection.

Purpose of the Study:

• To characterize the specific sonographic appearance of fetal kidneys in Meckel-Grüber syndrome.
• To establish early ultrasound markers for MGS diagnosis.

Main Methods:

• Retrospective analysis of 30 cases with ultrasound findings suggestive of MGS.
• Inclusion of only fetuses with confirmed MGS diagnosis.
• Detailed sonographic evaluation correlated with pathological findings.

Main Results:

• Seventeen cases confirmed MGS pathologically.
• Consistent sonographic pattern observed: enlarged kidneys (+4.8 SD mean).
• Unusual corticomedullary differentiation noted, with enlarged, mottled medullary areas due to cysts, detectable from the first trimester.

Conclusions:

• Fetal kidneys in MGS exhibit characteristic enlargement, cystic changes, and abnormal corticomedullary differentiation.
• These sonographic findings are detectable as early as the first and early second trimesters.
• Sonographic renal pattern is a valuable indicator for MGS diagnosis.