Fragile X syndrome is the second leading cause of mental retardation after Down syndrome. Most women carriers of the fragile X mutation are unaware of their condition. We critically evaluated whether screening pregnant women at low risk for FMR1 mutation would be feasible as a routine part of antenatal care in general practice. We also studied acceptance and attitudes to gene testing. From July 1995 until December 1996, a carrier test was offered at the Kuopio City Health Centre free of charge to all pregnant women in the first trimester following counselling given by midwives on fragile X syndrome. All women found to be carriers of FMR1 gene mutations underwent detailed genetic counselling and were offered prenatal testing. Attitudes towards the gene test were elicited by questionnaire. Most pregnant women (85%) elected to undertake the gene test. Six women were found to be carriers (a rate of 1 in 246), and all subsequently accepted prenatal testing. Three foetuses had a normal FMR1 gene, one had a large premutation, one a 'size mosaic' mutation pattern, and another a full mutation. This observational and interventional study demonstrates that antenatal screening provides an effective way of identifying carriers and incorporating prenatal testing into this process.
Serum levels of C-reactive protein (CRP), white blood cell count (WBC), amniotic fluid white blood cells (Gram staining) and leukocyte esterase (LE) activity were measured serially and prospectively in 30 pregnant women in labor at term. Results were retrospectively compared with amniotic fluid bacterial culture results. Leukocyte esterase activity was measured by the dipstick test (Nephurtest) and an in vitro photometric method. Amniotic fluid samples were collected through an intrauterine transvaginal pressure catheter. The serial CRP and WBC levels from admission to the delivery and CRP levels from delivery to the first post partum day increased statistically significantly. Levels of both markers correlated significantly with duration of labor. Both amniotic white blood cells and leukocyte esterase activity increased during labor. Bacterial colonization of amniotic fluid was not clearly associated with amniotic LE-activity or leukocyte count as determinated by Gram stain. The tests evaluated cannot be regarded as reliable methods in distinguishing intra-amniotic infection during labor and vaginal delivery at term.
The effect of a gel-forming dietary fiber, guar gum (15 g/day) on blood pressure, climacteric symptoms, serum hormones (estrone, estradiol, testosterone, androstenedione, follicle-stimulating hormone and luteinizing hormone) and on blood glucose and serum lipids (cholesterol, high density lipoprotein (HDL) cholesterol and triglycerides) was studied in a double-blind, placebo-controlled, parallel-group trial involving 30 menopausal women. A total of 15 women (Group A) were treated with guar gum and 15 (Group B) with placebo, for 6 months. Patients visited the doctor at the beginning of the study and after 3 and 6 months of treatment. Climacteric symptoms decreased significantly (p < 0.001) in both groups. Serum total cholesterol decreased by 5% in the guar gum group but this was not statistically significant. No changes in serum hormone levels or in other lipid and blood glucose levels were observed in either group. Body weight and blood pressure also did not change.
Total serum lactic acid dehydrogenase activity (LDH) and the levels of LDH isoenzymes were investigated in 14 women during early pregnancy (8--16th week), in 28 women during late pregnancy (29--37th week), in 73 at term (38--42nd week) and in 27 during labor (38--42nd week). LDH activity was found to be elevated in severe pre-eclampsia and in chronic hypertensive women during pregnancy as well as during normal and dysfunctional labor. No change was established in total serum LDH during normal pregnancy. LDH 1 was increased during late pregnancy and at term. In severe pre-eclampsia and during normal labor it was decreased. LDH 2 was also decreased in severe pre-eclampsia and during dysfunctional labor. LDH 3 was decreased during late pregnancy but increased in severe pre-eclampsia. No change was observed in LDH 4 during pregnancy, or in labor. LDH 5 was increased in normal and dysfunctional labor.
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