Mutation screening for the prothrombin variant G20210A by melting point analysis with the Light Cycler system: atypical results, detection of the variant C20209T and possible clinical implications.

In the differential diagnosis of thrombophilic disorders genotyping of prothrombin and factor V are nowadays performed as a routine analysis. In the following we describe the unusual results of the mutation screening using melting point analysis for two patients and the consecutive detection of the mutation C20209T by sequencing the corresponding gene fragments. The molecular result is discussed with special respect to the medical history, ethnic background and clinical findings of both patients.

Heparin-induced thrombocytopenia is rare in pregnancy.

OBJECTIVE: The indications for heparin use during pregnancy are expanding; however, heparin is associated with serious adverse effects including heparin-induced thrombocytopenia. Low-molecular-weight heparin is expensive but is associated with less frequent occurrences of heparin-induced thrombocytopenia in the nonpregnant population. However, the incidence of heparin-induced thrombocytopenia during pregnancy is unknown. The purpose of this study was to compare the incidence of heparin-induced thrombocytopenia in pregnant and nonpregnant women. STUDY DESIGN: This is a retrospective cohort comparison. Pregnant and nonpregnant women were identified by means of diagnosis related group and Current Procedural Terminology code searches at three medical centers in Utah; the incidence of heparin-induced thrombocytopenia in the two groups was compared. RESULTS: There were 10 (4%) cases of thrombocytopenia among 244 heparin-treated pregnant patients and 26 (11%) cases among the 244 nonpregnant controls. There were no cases of heparin-induced thrombocytopenia in the pregnant group, but there were 10 (4%) cases in the control group (P =.0014). CONCLUSION: Heparin-induced thrombocytopenia is extremely rare in pregnant women.

Paternal and maternal components of the predisposition to preeclampsia.

BACKGROUND: There is an inherited maternal predisposition to preeclampsia. Whether there is a paternal component, however, is not known. METHODS: We used records of the Utah Population Database to identify 298 men and 237 women born in Utah between 1947 and 1957 whose mothers had had preeclampsia during their pregnancy. For each man and woman in the study group, we identified two matched, unrelated control subjects who were not the products of pregnancies complicated by preeclampsia. We then identified 947 children of the 298 male study subjects and 830 children of the 237 female study subjects who had been born between 1970 and 1992. These children were matched to offspring of the control subjects (1950 offspring of the male control group and 1658 offspring of the female control group). Factors associated with preeclampsia were identified, and odds ratios were calculated with the use of stepwise logistic-regression analysis. RESULTS: In the group whose mothers had had preeclampsia (the male study group), 2.7 percent of the offspring (26 of 947) were born of pregnancies complicated by preeclampsia, as compared with 1.3 percent of the offspring (26 of 1973) in the male control group. In the female study group, 4.7 percent of the pregnancies (39 of 830) were complicated by preeclampsia, as compared with 1.9 percent (32 of 1658) in the female control group. After adjustment for the offspring's year of birth, maternal parity, and the offspring's gestational age at delivery, the odds ratio for an adult whose mother had had preeclampsia having a child who was the product of a pregnancy complicated by preeclampsia was 2.1 (95 percent confidence interval, 1.0 to 4.3; P=0.04) in the male study group and 3.3 (95 percent confidence interval, 1.5 to 7.5; P=0.004) in the female study group. CONCLUSIONS: Both men and women who were the product of a pregnancy complicated by preeclampsia were significantly more likely than control men and women to have a child who was the product of a pregnancy complicated by preeclampsia.

The effects of sex steroids on human umbilical artery and vein.

OBJECTIVE: To define the vascular actions of selected sex steroids on human umbilical artery and vein and to determine whether there are any gender-specific differences in vasorelaxation between umbilical cord vessels of male and female fetuses. METHODS: Segments of umbilical artery (n = 12) and umbilical vein (n = 8) from male and female fetuses were suspended in organ baths of Krebs solution for isometric tension recording. The vessels were contracted using 60 mM potassium chloride followed by exposure to increasing concentrations (10(-7) to 10(-4) M) of sex steroid hormones (estradiol-17 beta, estriol, estrone, testosterone, and progesterone). A specific estrogen receptor antagonist (ICI 164, 384) was used to attempt to block the estradiol effect. Changes in tension were recorded. RESULTS: Of the agents tested, estradiol-17 beta had the greatest effect (25-29% relaxation at 10(-4) M concentration), which was uninhibited by a specific receptor antagonist. The other steroids tested had no significant effect, even at 10(-4) M concentration. The umbilical artery is slightly more sensitive to the effects of estradiol than the umbilical vein. There were no gender-specific differences noted in either artery or vein harvested from male or female fetuses. CONCLUSION: Estradiol-17 beta in supraphysiologic concentrations has a non-receptor-mediated vasorelaxation effect on human umbilical blood vessels.

Oxytocin labor stimulation of twin gestations: effective and efficient.

OBJECTIVE: To test the hypothesis that oxytocin labor stimulation of twin gestations is similar to that of singletons regarding dosage, time, complications, and ability to achieve vaginal delivery. METHODS: This retrospective investigation included 124 gravidas receiving oxytocin for augmentation or induction of labor. Sixty-two women with twin gestations were matched by parity, cervical dilation at initiation of oxytocin, gestational age, oxytocin dosage regimen, and indications for oxytocin to controls with singleton pregnancies. Outcome variables included maximum dosage of oxytocin, incidence of hyperstimulation and fetal heart rate (FHR) abnormalities, time from oxytocin to delivery, cesarean deliveries, and maternal and neonatal outcomes. Statistical analysis was done using McNemar test, paired t test, and Wilcoxon signed-rank test for paired samples. RESULTS: Women with twin pregnancies and those with singletons responded similarly regarding maximum oxytocin dosage (21 +/- 1.5 and 18 +/- 2.4 mU/minute, respectively, P = .1), time from oxytocin to delivery (7.0 +/- 0.8 and 6.7 +/- 0.6 hours, respectively, P = .88), and successful vaginal delivery (90% and 90%, respectively). Oxytocin stimulation of twins resulted in fewer interruptions of the infusion for FHR abnormalities (5% compared with 26%, odds ratio [OR] 0.27, 95% confidence interval [CI] 0.16, 0.47) and hyperstimulation (6% compared with 18%, OR 0.19, 95% CI 0.36, 0.99). CONCLUSION: Twin gestation has no adverse impact on the effectiveness or efficiency of oxytocin labor stimulation. Twin pregnancy seems to be associated with fewer side effects.