PubMed · 5463294
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M Pestel. 1970-05-09. [Genetic advice].. https://pubmed.ncbi.nlm.nih.gov/5463294/
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We performed prenatal diagnosis of organic acid disorders using two mass spectrometric methods; gas chromatography mass spectrometry (GC/MS) and tandem mass spectrometry (ESI/MS/MS). Of 28 cases whose amniotic fluid was tested, 11 cases were diagnosed as "affected". All cases whose samples were diagnosed as "unaffected" were confirmed to have no symptoms or abnormalities in urinary organic acid analysis after birth. Of the 11 "affected" cases, two cases were missed by ESI/MS/MS but not by GC/MS. When the stability of metabolites in amniotic fluid was checked, it was found that acylcarnitines degraded in one week at room temperature, whereas organic acids such as methylmalonate or methylcitrate were stable for at least 14 days. Prenatal diagnosis by analysis using simultaneous two or more methods may be more reliable, though attention should be paid to sample transportation conditions.
OBJECTIVE: There is no specific antiviral therapy or a vaccine, which could be safely administered to the pregnant women with primary human cytomegalovirus (CMV) infection. Therefore, prenatal diagnosis has a critical role in the management of pregnancy, complicated by this disease. In this study, we investigated the prevalence and clinical consequences of human CMV infection from cervicovaginal smear and amniotic fluid samples of pregnant women by using real-time polymerase chain reaction (RT-PCR) assay, in one of the Obstetrics and Gynecology outpatient clinics of Turkey. The identification of reliable prognostic markers of fetal disease remains the main purpose and a major challenge on this issue. METHODS: Two hundred and six samples, of which 135 were cervicovaginal smear and 71 were amniotic fluid, were enrolled in the study. The DNAs of the samples were extracted by using Roche Diagnostic (Roche, Germany) kit and amplifications of these DNAs were studied by using Light-Cycler system (Roche Germany) as being quantitative. Anti-CMV IgM antibodies in the samples were studied by both MEIA (Imx system, Abbot Laboratories, USA) and a commercial ELISA kit (Radim SPA, Italy) while anti-CMV IgG antibodies were studied by MEIA (Axsym system, Abbot Laboratories, USA). RESULTS: Human CMV DNA was found to be positive in 1.5% (2 in 135) of cervicovaginal smear and 1.4% (1 in 71) of amniotic fluid samples by RT-PCR. IgM and IgG were found to be negative in all of the cervicovaginal smear samples by both MEIA and ELISA, while IgG antibody was found to be positive in only one of the amniotic fluid samples by MEIA. CONCLUSION: With RT-PCR assay, we have found the prevalence of human CMV in pregnant women similar to epidemiologic reports, which have been described earlier. Whereas the fetus with positive amniotic fluid in favor of human CMV had an intrauterine growth restriction resulted in intrauterine exitus, no symptoms were observed in the infants of the other two pregnant women with positive RT-PCR results. The fact that the clinical consequence of the newborn whose amniotic fluid evaluation revealed human CMV infection by RT-PCR made us think that this molecular diagnosis method may be a reliable assay in prenatal diagnosis of this pathogen.
We have previously reported that intrauterine (i/u) administration of epidermal growth factor (EGF 500 ng) on day (d) 21 of pregnancy delayed 19.0 +/- 0.6 h the onset of labor. Progesterone (P) is secreted by ovarian corpora lutea (CL) throughout gestation in the rat. Prepartum CL regression due to increased uterine cyclooxygenase I and prostaglandin F(2alpha) results in P withdrawal followed by labor. The aims of the present work were (i) to study whether EGF delayed-onset of labor was mediated by a mechanism that prevented CL regression; (ii) to determine amniotic fluid (AF) EGF in pregnant rats. Rats on d21 of pregnancy received i/u EGF (500 ng) and were killed 0, 4, 8, 12, 24, and 48 h later. Control AF from rats on d13 and 18-22 of pregnancy was obtained. EGF decreased uterine prostaglandin F(2alpha) synthesis 8 h after treatment. Twelve hours after EGF injection, P reached its highest serum level and uterine cyclooxygenase I expression was undetectable. CL from rats killed 8 and 12 h after EGF were similar to those from rats on d13 of pregnancy, when serum P is maximum. EGF in AF increased throughout gestation, reached a maximum on d21, and decreased before the onset of labor. We suggest that the effect of EGF on the onset of labor was mediated by an early effect on the uterus that prevented prepartum CL regression.