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Arthrogryposis multiplex congenita (AMC) is a symptom complex of congenital joint contractures associated with neurogenic and myopathic disorders. It is diagnosed at birth and often progresses to a state of significant disability. Pregnancy in a woman with AMC is at high risk due to diminished pulmonary reserve, increased risk of thromboembolism and anesthesia. Successful pregnancy in patients with AMC is very rare and only five cases have been reported in literature. Present case is being reported due to its rarity.  相似文献   

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Single nucleotide polymorphisms of the genes coding for coagulation factors are the cause of congenital thrombophilia which might lead to recurrent miscarriages and fetal loss in advanced pregnancy. The most frequent reasons of thrombophilia are the following: factor V Leiden (1691G>A), mutation 20210G>A of prothrombin gene, and 677C>T of 5, 10-methylenetetrahydrofoliate reductase gene. The following article briefly summarizes the administration of antithrombotic prophylaxis (low-molecular weight heparin, acetylsalicylic acid) which seems to be an effective course of action to prevent complications in next pregnancies. What is more, adverse events after long-term usage of low-molecular weight heparin and acetylsalicylic acid in prophylactic doses have not been observed. Due to lack of complete randomized investigation about the inclusion of antithrombotic prophylaxis in this group of pregnant women, common scheme of administration and optimal dosage is yet to be established.  相似文献   

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Inherited thrombophilia and poor pregnancy outcome   总被引:2,自引:0,他引:2  
Gestational vascular complications are a major cause of maternal and fetal morbidity.A growing body of evidence suggests a significant role for inherited thrombophilia in the development of gestational vascular complications. While the majority of women with thrombophilia will have an uneventful gestation, case-control studies demonstrated that thrombophilia is more prevalent in cohorts of women with pregnancy loss and early-onset pre-eclampsia. Placental abruption and severe intrauterine growth restriction (IUGR) may also be associated with thrombophilia. Placental pathological findings in women with thrombophilia are hallmarked by thrombosis and fibrin deposition potentially to a greater degree than in normal pregnancy. Preliminary non-randomized studies suggest a benefit for prophylaxis with unfractionated and low-molecular-weight heparin (LMWH), and prospective randomized trials are in progress to define whether LMWH is effective in preventing pregnancy loss and other gestational vascular complications in women with thrombophilia and previous fetal wastage.  相似文献   

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Inherited thrombophilia has been suggested as a possible condition of increased susceptibility to adverse pregnancy outcomes. In our prospective study, we investigated the association between combined inherited thrombophilia and adverse pregnancy outcome in the South-Western Greek population. Three hundred and ninety-six healthy Greek women with spontaneous pregnancies were investigated for combinations of the three commonest thrombophilic mutations (Factor II G20210A, Factor V Leiden and MTHFR C677T) and followed for adverse pregnancy outcomes. Statistical analysis was performed by Pearson's chi-square test. Four women (1%) had the FV Leiden/MTHFR T677T double genotype and two women (0.5%) had the FII G20210A/MTHFR T677T double genotype. Although the small number of cases of combined inherited thrombophilia, it seems that the presence of FV Leiden/MTHFR T677T double genotype increases the risk for placental abruption.  相似文献   

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OBJECTIVE: We report a case of successful pregnancy outcome following maternal intravenous immunoglobulin treatment in a woman with previous history of recurrent fetal hydrops secondary to perinatal haemochromatosis. METHODS: A 32-year old woman had two successive pregnancies complicated by fetal hydrops and perinatal deaths. Pathological examination of the fetus showed severe liver destruction with siderosis of hepatocytes at extrahepatic sites, but sparing of the reticulo-endothelial elements, consistent with the diagnosis of perinatal haemochromatosis. In the subsequent pregnancy, maternal intravenous immunoglobulin was administered weekly from the 18th week of gestation until delivery by elective caesarean section at 38 weeks. The infant was treated with desferrioxamine, N-acetylcysteine, vitamins K and E. RESULTS: The infant was born in good health, but had high serum ferritin levels, markedly elevated percent transferrin saturation, and mild transient derangement of liver and coagulation function. The infant made an excellent recovery and the treatment was stopped at 7 weeks of age. The liver and coagulation parameters and the serum ferritin levels returned to normal values. CONCLUSIONS: Haemochromatosis should be considered in the differential diagnosis of hydrops fetalis. The recurrence risk is high, and immunomodulation with intravenous immunoglobulin treatment appears to alter the course of the disease with better infant survival.  相似文献   

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We describe the case of a 30-year-old primiparous woman who had multiple coronary stenoses of unknown cause, and discuss causes and risks in pregnancy in a patient with coronary stenoses and the management and outcome. At 13 years of age, the patient was diagnosed as having multiple coronary stenoses and percutaneous transluminal coronary angioplasty was performed. At the age of 30, coronary arteriography demonstrated multiple severe stenoses. Her previous physician had permitted her to become pregnant. At 32 weeks' gestation, due to uncontrollable uterine contractions, magnesium sulfate was administered. At 37 weeks' gestation, a cesarean section was performed because of breech presentation, and she delivered a healthy female infant. During cesarean section, oxytocin was given at a slower rate. There has been no recurrence of cardiac events during and after pregnancy. Multiple coronary stenoses during pregnancy need a multidisciplinary approach.  相似文献   

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Previous conceptions are one predictor for the outcome of assisted reproductive technology procedures. Approximately 18-34% of clinical pregnancies following assisted reproduction procedures result in spontaneous abortion. The risk of such pregnancy loss is believed to increase with women's age, previous miscarriages and use of frozen-thawed embryos. This study analyses German IVF Registry data to examine the impact of previous miscarriages on the outcome of assisted reproduction procedures. The data set consists of a total of 174,909 assisted reproduction procedures performed between January 1998 and December 2000. Multiple logistic regression is used to assess the correlation between women's age, spousal/partner change, and infertility diagnosis. It is demonstrated that any previous miscarriage will increase the treatment-dependent miscarriage rate in assisted reproduction procedures. A significantly higher impact is shown for one previous miscarriage achieved by assisted reproduction procedures compared with spontaneous conception. Partner change is shown to have no specific impact on the treatment dependent miscarriage rate, whereas a statistically significant increase in miscarriages in all assisted reproduction procedures was found among women older than 34 years of age. Overall, the highest rate of treatment-dependent miscarriages was seen in assisted reproduction procedures with cryopreserved embryo transfer.  相似文献   

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The paper summarized the program of prenatal management of multiple pregnancy. The need for outpatient multiple pregnancy clinic is stressed.  相似文献   

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Patients with treated Wilson's disease and no residual impairments should have successful pregnancies. We report a case of a neurologically impaired patient with Wilson's disease who had a successful pregnancy with no complications. This is the first case to document that compliance with penicillamine therapy as low as 500 mg/day avoids placental and fetal copper accumulation. (Am J Obstet Gynecol 1997;176:712-4.)  相似文献   

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BACKGROUND: Gain-of-function mutations of the calcium-sensing receptor gene have recently been identified as a cause of familial hypercalciuric hypocalcemia. There have been no earlier reported cases of pregnancy among patients with this disorder. CASE: A 26-year-old woman, gravida 1, para 0, was diagnosed at age 18 as being a heterozygous carrier of a mutation in the calcium-sensing receptor gene. Stable maternal hypocalcemia was achieved during pregnancy with high-dose calcium and 1,25-dihydroxyvitamin D3 therapy. Prenatal diagnosis was accomplished via amniocentesis at 16 weeks' gestation. The patient underwent cesarean delivery at 35 5/7 weeks' gestation after developing the HELLP syndrome. CONCLUSION: Patients with mutations of the calcium-sensing receptor may have a successful pregnancy outcome. This abnormality may be transmitted to the fetus via an autosomal dominant pattern.  相似文献   

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Bernard-Soulier syndrome is a rare bleeding disorder, and there is scant literature on the pregnancy outcome in women with this syndrome. Due to the bleeding tendency in this disease, pregnant woman may have ante-, intra- or postpartum complications. We report our experience of managing a pregnant woman with Bernard-Soulier syndrome who had a successful pregnancy outcome, and review the existing literature on pregnancy in women with this syndrome.  相似文献   

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Postamniocentesis chorioamnionitis is usually managed with induction of labor to prevent maternal sepsis and related morbidity and mortality. We report a case of chorioamnionitis in a triplet pregnancy after midtrimester genetic amniocentesis, in which multiple antibiotic treatment (ampicillin 2 g i.v. loading dose followed by 1 g i.v. every 6 hr; clindamycin 900 mg i.v. every 8 hr; gentamicin 120 mg i.v. loading dose followed by 100 mg i.v. every 8 hrs; and erythromycin 500 mg i.v. every 6 hr) for 7 days and delivery of the presumably infected triplet A successfully reversed the clinical symptomatology, allowing prolongation of pregnancy until 26 weeks and survival of the remaining fetuses. At age 2 years, both infants are doing well and are meeting their developmental milestones. The viable outcome of this management strategy suggests that antibiotic treatment and expectancy may be an option in selected cases of postamniocentesis chorioamnionitis in multiple pregnancies.  相似文献   

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