Meckel Gruber Syndrome Research Paper

Prenatal diagnosis of the Meckel-Gruber syndrome(MGS) is crucial to avoid misdiagnosing this syndrome with other conditions such as Zellweger syndrome, trisomy 13, Jeune syndrome ,and Agostino syndrome which all have normal amniotic fluid volume while oligohydramnios ( a condition in which the amniotic fluid is lower than normal) occurs in Meckel-Gruber syndrome. It is most important for families with previously affected children because the possibility of recurrence is up to 25%. Meckel-Gruber syndrome can be detected from 11 weeks of gestation by identifying at least two of the classical triad (which are occipital encephalocele, polycystic kidneys, polydactyly). There are 3 major steps involved in diagnosing Meckel-Gruber syndrome. The first step is to look into the family history. If the family previously had any affected children with Meckel-Gruber syndrome or with some of its symptoms, it is more likely to have another affected child because this syndrome is an autosomal recessive condition and its recurrence possibility is up to 25%.

It is recommended to be done in the first trimester, as normal amniotic fluid volume allows visualization of the fetus anatomy. Usually the first symptom to be encountered is encephalocele, which is a type of Central nervous system malformations. Encephalocele was present in 80% of the cases diagnosed. When encephalocele is detected, it is essential to examine the embryo for other abnormalities such as polycystic kidneys, polydactyly, and liver fibrosis. Polycystic kidneys is the most common defect as it was identified in 95% of cases. To confirm the diagnosis a karyotype (which is a photograph of chromosomes that have been dyed and arranged in some way to know the number and structure of chromosomes and to find genetic abnormalities) is