Author/Authors :
gaber, k.r. national research centre - prenatal diagnosis department, human genetics and genome research division, Egypt , ibrahim, m.m. national research centre - biochemical genetics department,human genetics and genome research division, Egypt , farag, m.k. national research centre - prenatal diagnosis department,human genetics and genome research division, Egypt , abdallah, z.y. national research centre - biochemical genetics department,human genetics and genome research division, Egypt , eldessouky, s.h. national research centre - prenatal diagnosis department,human genetics and genome research division, Egypt , fateen, e.m. national research centre - biochemical genetics department,human genetics and genome research division, Egypt
Abstract :
Background: Mucopolysaccharidoses (MPS) are autosomal recessive disorders characterized by deficiency of lysosomal enzymes which break down the glycosaminoglycans (GAGs) which results in widespread intra and extra-cellular accumulations of GAGs. Early initiation of treatment,before the onset of irreversible tissue damage,clearly provides a favorable disease outcome. Early detection might be afforded by analysis of amniotic fluid. Aim: To report our experience of prenatal diagnosis of MPS over 14-year period for cases referred from medical centers throughout Egypt. Also to report the benefit of prenatal genetic testing in cases accompanied with genetic disorders. Materials and methods: The present study included 33 pregnant women at risk of having a fetus with MPS. Of these cases,3 women had more than one pregnancy evaluated. All cases had a detailed genetic ultrasound examination and a maternal serum alpha-fetoprotein (MSAFP) evaluation during the second trimester of pregnancy. Thirty-eight amniocentesis procedures were performed during the study for 2 dimensional electrophoresis (2-DEP) of GAGs. Results: Positive consanguinity was present in near 70% (23/33) of the couples. Detailed genetic ultrasound examination revealed a case with anencephaly and another one with a twin pregnancy. One case had a MSAFP of 3.6 multiple of the normal median (open neural tube defect). Another 2 cases had a risk of having Down syndrome. Results of the 2-DEP of GAGs in amniotic fluid revealed 36.8% (14/33) affected fetuses. During the final counseling setting of the 14 cases with abnormal results,43% (6/14) elected to continue their pregnancy while 57% (8/14) elected termination. Conclusion: Early prenatal screening and diagnosis,through a systematic multidisciplinary approach,to all cases of mucopolysaccharidoses are recommended,to improve the quality of life and to avoid the presence of other associated fetal developmental malformations. © 2015.
Keywords :
Alpha , fetoprotein , Amniotic fluid , Glycosaminoglycans , Mucopolysaccharidosis
