Prenatal genetic testing, counseling and follow-up of 33 Egyptian pregnant females with history of mucopolysaccharidoses

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. 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. 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. 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. 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

Predictive value of biochemical markers in pregnancy induced hypertension

Hypertensive disorders of pregnancy complicate 10% of all pregnancies. They include gestational hypertension, preeclampsia, eclampsia, and chronic hypertension. The aim of this study was to identify predictive markers for early diagnosis of women who are at risk of gestational hypertension or preeclampsia. This study was conducted on a total of 64 cases. Twenty nine were pregnant females who developed pregnancy induced hypertension and 35 females were normotensive throughout pregnancy with normal pregnancy outcome taken as controls. Subjects were recruited from the Prenatal Diagnosis Clinic, at the National Research Center. Maternal blood samples were taken as part of the department's routine second trimester biochemical screening program at 14- 20 weeks gestation. All cases were subjected to the estimation of human chorionic gonadotropin [hCG], tumor necrosis factor alpha [TNF- alpha], C-reactive protein [CRP], nitric oxide [NO] and the lipid peroxidation product malondialdehyde [MDA], in addition to the estimation of lipid profiles [cholesterol [Ch], high density lipoprotein cholesterol [HDLc], low density lipoprotein cholesterol [LDLc] and triglycerides [TG]], urea and creatinine. The study showed significant increase of [beta-hCG, TNF-alpha, CRP, MDA, urea, creatinine, TG, Ch and LDLc in women who developed PIH compared with normotensive pregnant women, while NO was significantly decreased in women who developed PIH compared with normotensive pregnant women. It could be concluded that the elevated levels of TNF-alpha, beta-hCG, CRP and MDA, in addition to decreased levels of NO and abnormal lipid profiles were implicated in subsequent risk for PIH. Furthermore TNF-alpha and MDA may be considered as important predictive markers for early detection of PIH

Maternal vitamin B12 and the risk of fetal neural tube defects

Folic acid insufficiency is a known risk factor for neural tube defects [NTDs], while the role of vitamin B12 is questionable. Thus, our purpose was to investigate if low maternal serum vitamin B12 is associated with an increased risk of NTDs. Prenatal Diagnosis and Clinical Genetics Clinics, National Research Center, in collaboration with the Radioisotope Department, Nuclear Research Center. The study groups included 36 women who were, or had been, pregnant with a NTD-affected fetus. The control groups comprised 35 healthy women with normal prior or current pregnancy and uncomplicated obstetric histories. Fasting plasma homocysteine, serum folate and cobalamin [vitamin B12] were performed. Odds ratio [OR] and 95% confidence intervals were calculated. The fasting homocysteine was significantly higher in the study groups as compared to the controls. The median serum folate concentrations were similar in cases and controls. While the median vitamin B12 concentrations were significantly lower in the study groups compared to the controls. Low vitamin B12 concentration was associated with an approximately 2 to 3 fold increased risk for NTDs. Low maternal serum of vitamin B12 can be considered an important etiologic factor for the development of neural tube defects in our population. This may help in both genetic counseling for families with history of NTDs malformation, and as a preconceptional prophylactic measure by maternal supplementation of vitamin B12 and folic acid