| Autor: |
Khaled R. Gaber, Mona M. Ibrahim, Mona K. Farag, Zeinab Y. Abdallah, Sara H. Eldessouky, Ekram M. Fateen |
| Jazyk: |
angličtina |
| Rok vydání: |
2015 |
| Předmět: |
|
| Zdroj: |
Egyptian Journal of Medical Human Genetics, Vol 16, Iss 2, Pp 159-163 (2015) |
| Druh dokumentu: |
article |
| ISSN: |
1110-8630 |
| DOI: |
10.1016/j.ejmhg.2015.01.004 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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