Os Factores Genéticos na Perda Gestacional

Pregnancy loss is the most common obstetric complication. Multiple factors have been associated with recurrent or sporadic pregnancy loss, and genetic factors, particularly at earlier gestational ages, are the most important ones. The proportion of miscarriages due to chromosomal factors decreases with increasing gestational age. The most common chromosomal abnormalities in early losses are autosomal trisomies, monosomy X and polyploidy. In later losses, aneuploidies are similar to those found in live newborns (trisomies 21,18 and 13, X monosomy and polysomy of sex chromosomes. In cases of recurrent miscarriage the most common cytogenetic changes are trisomies, polyploidy, monosomy X and unbalanced translocations. Identification of the causes of pregnancy loss facilitates the families’ grief and may indicate if there is the risk of repetition, in order to reduce recurrence. The investigation recommended in each case is far from consensual, and the cost/benefit analysis of diagnostic exams is essential. The determination of the karyotype of the products of conception is indicated in cases of fetal loss and recurrent miscarriage, while the parental karyotypes should be performed only in selected cases. Couples with identified genetic conditions should be counseled about reproductive options, including prenatal or pre-implantation diagnosis. Surveillance of a future pregnancy should be multidisciplinary and adjusted in each case. The cytogenetic factors, due to their high prevalence and complexity, have a fundamental, but still not completely clear, role in pregnancy loss.

Prosthetic Mitral Valve Thrombosis in Pregnancy: From Thrombolysis to Anticoagulation

INTRODUCTION: Pregnant women with mechanical prosthetic heart valves are at increased risk for valve thrombosis. Management decisions for this life-threatening complication are complex. Open-heart surgery has a very high risk of maternal mortality and fetal loss. Bleeding and embolic risks associated with thrombolytic agents, the limited efficacy of thrombolysis in certain subgroups, and a lack of experience in the setting of pregnancy raise important concerns. CASE REPORT: We report a case of mitral prosthetic valve thrombosis in early pregnancy, which was successfully treated with streptokinase. Ten years later, the same patient had an uneventful pregnancy, throughout which acenocoumarol was maintained. CONCLUSION: With this case we review the prevention (with oral anticoagulant therapy) and treatment of prosthetic valve thrombosis during pregnancy, which is important for both obstetrician and cardiologist.

Reconstruction of Large Defect of Foot with Extensive Bone Loss Exclusively Using a Latissimus Dorsi Muscle Free Flap: a Potential New Indication for this Flap

In cases of extensive damage to the foot, with significant bone loss, it is generally accepted that reconstruction must include bone flaps or grafts either in the emergency setting or subsequently. In this report, we describe the case of an 18-year-old student with an avulsion injury of the dorsum of his right foot. Consequently, he lost most of the soft tissue over the dorsum of the foot and the cuboid, navicular, and cuneiform bones. A latissimus dorsi free flap was used to reconstruct the defect. A functional pseudoarthrosis developed between the remaining bones of the foot, and the patient experienced satisfactory foot function after rehabilitation. For this reason, no additional reconstructive procedure was undertaken. This case suggests that it might be adequate to use the latissimus dorsi muscle flap more liberally than previously reported in the reconstruction of extensive defects of the dorsum of the foot, including cases with significant bone loss. This option could avoid the morbidity and inconvenience of a second surgery and the need to harvest a bone flap or graft.

Lupus and Pregnancy. 15 Years of Experience in a Tertiary Center

This retrospective study was designed to evaluate the outcome of pregnancies in women diagnosed with systemic lupus erythematosus (SLE) followed in a tertiary fetal–maternal center. Data were collected from clinical charts between January 1993 and December 2007, with a total of 136 pregnancies (107 patients). Mean maternal age was 29 years, with the vast majority of patients being Caucasian. Most patients were in remission 6 months prior to pregnancy (93%) and the most frequently affected organs were the skin and joints. Renal lupus accounted for 14% of all cases. Twenty-nine percent of patients were positive for at least one antiphospholid antibody (aPL) and nearly 50% had positive SSa/SSb antibodies. All patients with positive aPL received low-dosage aspirin and low molecular- weight heparin (LMWH). There were no pregnancy complications in more than 50% of cases and hypertensive disease and intrauterine growth restriction were the most common adverse events. There were 125 live births, one neonatal death, eight miscarriages, and three medical terminations of pregnancy. Preterm delivery occurred in 25% of pregnancies. Our results are probably the conjoined result of a multidisciplinary approach together with a systematic management of SLE pregnancies, with most patients keeping their prior SLE medication combined with low-dosage aspirin and LMWH in the presence of aPL.

Burkitt’s Lymphoma Related to Epstein–Barr Virus Infection During Pregnancy

Setting: Burkitt’s lymphoma is a rare form of cancer and is an extremely rare diagnosis during pregnancy. This form of lymphoma is a very fast growing B cell neoplasm and chemotherapy is the treatment of choice for the disease in all its stages. Case report: The authors describe the case of a Caucasian 40-year-old nulliparous woman, with previous known Epstein–Barr virus infection, that presents at 28 weeks gestation with supraclavicular adenopathy and multiple bilateral breast nodules, in which biopsy showed non-Hodgkin lymphoma, Burkitt’s type. Discussion: There are few described cases of Burkitt’s lymphoma during pregnancy and in general the outcomes have been poor. In most of the cases, the patients were not treated by current standards or instead had a late diagnosis. This neoplasia is the most rapidly progressive human tumor, and any delay in initiating therapy can adversely aVect patient’s prognosis. The authors discuss treatment options in pregnancy and its perinatal implications.

Primary Antiphospholipid Syndrome: Pregnancy Outcome in a Portuguese Population

Introduction:Women with antiphospholipid syndrome(APS) may suffer from recurrent miscarriage, fetal death, fetal growth restriction (FGR), pre-eclampsia, placental abruption, premature delivery and thrombosis. Treatment with aspirin and low molecular weight heparin (LMWH) combined with close maternal-fetal surveillance can change these outcomes. Objective: To assess maternal and perinatal outcome in a cohort of Portuguese women with primary APS. Patients and Methods: A retrospective analysis of 51 women with primary APS followed in our institution (January 1994 to December 2007). Forty one(80.4%) had past pregnancy morbidity and 35.3%(n=18) suffered previous thrombotic events. In their past they had a total of 116 pregnancies of which only 13.79 % resulted in live births. Forty four patients had positive anticardiolipin antibodies and 33 lupus anticoagulant. All women received treatment with low dose aspirin and LMWH. Results: There were a total of 67 gestations (66 single and one multiple). The live birth rate was 85.1%(57/67) with 10 pregnancy failures: seven in the first and second trimesters, one late fetal death and two medical terminations of pregnancy (one APS related). Mean (± SD) birth weight was 2837 ± 812 g and mean gestational age 37 ± 3.3 weeks. There were nine cases of FGR and 13 hypertensive complications(4 HELLP syndromes). 54.4% of the patients delivered by caesarean section. Conclusions: In our cohort, early treatment with aspirin and LMWH combined with close maternal-fetal surveillance was associated with a very high chance of a live newborn.

Ocular Toxoplasmosis Reactivation During Pregnancy – A Case Report

Introduction: Toxoplasmosis is caused by Toxoplasma gondii and may be acquired from food or water contaminated with cat feces or by vertical transmission. Severe fetal complications can overcome during pregnancy. There are also rare case-reports of congenital toxoplasmosis from previously immunized pregnant women; usually these women being had prior retinal toxoplasmic lesions. Immunosuppresion is one of the risk factors which accounts for some of these cases. Case report: 30 year-old pregnant woman, OI 2002, brazilian, previously healthy, admitted in Ophtalmology Department because of sudden left eye amaurosis in June, 2010. The fundoscopy revealed retinal scars suggesting previous infections; she was treated with corticoids and spiramycin for ocular toxoplasmosis reactivation. Previous serum analysis (2008) showed immunity to T. Gondii, but in July the IgM was negative and high levels of specific IgG were found (1227UI/mL). The serologic findings were later confirmed by a more accurate laboratory technique which found the IgM to be also positive. An amniocentesis was performed and it was negative for fetal transmission. Clinical and ultrasound follow-up throughout the rest of the gestational period was normal; daily spiramycin intake was maintained. An uneventful term delivery was performed. Neither the newborn’s serum analysis nor the histopathological study of the placenta were positive for congenital infection. Conclusion: Toxoplasmosis reactivation in pregnant women without immunosuppression is rare but is more likely to occur if previous post-infectious retinal scars are present. T. gondii infection is endemic in Brazil, so the geographical origin is important. If risk factors are present, fundoscopy should be performed every three months during pregnancy and one should always be aware of any visual symptoms. If you suspect reactivation, start medical prophylaxis for fetal transmission, perform amniocentesis and regular ultrasound follow-up.

Two Gestational Sacs, Two Locations - Heterotopic Pregnancy - Case Report

Introduction: Heterotopic pregnancy (HP) is defined as two gestational sacs simultaneously present in two different locations, being the uterus and the fallopian tubes the more common. Sporadic HP is a very rare condition (1:30,000 pregnancies). With the use of medically assisted reproduction the prevalence is significantly higher(1:7,000). Considering spontaneous pregnancy, HP is associated with risk factors, being prior inflammatory pelvic disease the most common. The clinical presentation is similar to that of ectopic pregnancy or spontaneous miscarriage although it is usually a more late diagnosis. Case report: 25 year-old pregnant woman, OI 0000, previously healthy; admitted at the Emergency Department (ED) with acute pelvic pain mainly at the right iliac fossa and moderate vaginal bleeding confirmed by speculum examination. She was hemodynamically stable and the bimanual palpation was painful; no prior medically assisted reproduction technique had been performed. The haemoglobin value was within normal range and the serum β-hCG was 2,763mUI/mL. The ultrasonography at the ED showed an in uterus gestational sac and another one inside the right fallopian tube; in both gestational sacs cardiac activity was absent. HP diagnosis was then established and the patient was admitted at the Obstetrics Ward for surveillance and ultrasonographic/laboratorial reassessment; complete miscarriage of the uterine pregnancy occurred but methotrexate was necessary for the treatment of persistent tubarian pregnancy. Conclusion: When evaluating a pregnant woman with pelvic pain and vaginal bleeding one should always be aware of several differential diagnosis amongst which HP should be considered. If the patient has in uterus viable pregnancy the treatment of the ectopic concomitant gestational sac should be as conservative as possible; methotrexate should not be used in that situation as it leads to uterine pregnancy miscarriage in about one third of the patients.

Gravidez após Colocação de Banda Gástrica para Tratamento da Obesidade Mórbida

Obesity is known to have a negative impact on pregnancy outcome, as it is associated with an increase in the incidence of gestational diabetes, hypertension, preeclampsia, neural tube defects, macrosomia, and late fetal death. Gastric banding is considered an appropriate intervention for morbid obesity when other weight-loss measures are unsuccessful, and this treatment has been shown to be effective in causing a sustainable weight loss. Some women will become pregnant after bariatric surgery, and the nutritional and metabolic challenges brought by gastric banding may have a profound impact on maternal health and pregnancy outcome. The authors report the case of a 27 year old pregnant woman, with a past medical history of gastric banding surgery for morbid obesity. At 18 weeks of gestation, the patient started complaining of severe nausea and vomiting, The situation deteriorated three weeks later when she rapidly developed severe desnutrition, dehydration and early signs of liver and renal failure. Migration of the gastric band was diagnosed, and laparoscopy conducted to remove it. In the day following surgery the patient complained of absent fetal movements, and an intrauterine demise was diagnosed on ultrasound. Pathological examination of the fetus and placenta failed to reveal the cause of death, but no growth restriction was documented, suggesting the occurrence of an acute event.

Inferior Vena Cava Filter Placement During Pregnancy: an Adjuvant Option When Medical Therapy Fails

The authors present a case of a 27-year-old multiparous woman, with multiple thrombophilia, whose pregnancy was complicated with deep venous thrombosis requiring placement of a vena cava filter. At 15th week of gestation, following an acute deep venous thrombosis of the right inferior limb, anticoagulant therapy with low-molecular-weight heparin (LMWH) was instituted without improvement in her clinical status. Subsequently, at 18 weeks of pregnancy, LMWH was switched to warfarin. At 30th week of gestation, the maintenance of high thrombotic risk was the premise for placement of an inferior vena cava filter for prophylaxis of pulmonary embolism during childbirth and postpartum. There were no complications and a vaginal delivery was accomplished at 37 weeks of gestation. Venal placement of inferior vena cava filters is an attractive option as prophylaxis for pulmonary embolism during pregnancy.

Myomectomy in Early Pregnancy - A Case Report

Uterine leiomyomas are by far the most common benign tumours of the female genital tract. The true incidence of leiomyomas during pregnancy is, however, unknown. Although leiomyomas usually remain asymptomatic during pregnancy, they may complicate its course. The management of leiomyoma during pregnancy is medical, but, in rare circumstances, surgical intervention and myomectomy may be required. A case of myomectomy in early pregnancy is described.

The Role of Psychological Adjustment in the Decision-Making Process for Voluntary Termination of Pregnancy

BACKGROUND: This study's objective was to evaluate the role of psychological adjustment in the decision-making process to have an abortion and explore individual variables that might influence this decision. METHODS: In this cross-sectional study, we sequentially enrolled 150 women who made the decision to voluntarily terminate a pregnancy in Maternity Dr. Alfredo da Costa, in Lisbon, Portugal, between September 2008 and June 2009. The instruments were the Depression, Anxiety and Stress Scale (DASS), Satisfaction with Social Support Scale (SSSS), Emotional Assessment Scale (EAS), Decision Conflict Scale (DCS), and Beliefs and Values Questionnaire (BVQ). We analyzed the data using Student's T-tests, MANOVA, ANOVA, Tukey's post-hoc tests and CATPCA. Statistically significant effects were accepted for p<0.05. RESULTS: The participants found the decision difficult and emotionally demanding, although they also identified it as a low conflict decision. The prevailing emotions were sadness, fear and stress; but despite these feelings, the participants remained psychologically adjusted in the moment they decided to have an abortion. The resolution to terminate the pregnancy was essentially shared with supportive people and it was mostly motivated by socio-economic issues. The different beliefs and values found in this sample, and their possible associations are discussed. CONCLUSION: Despite high levels of stress, the women were psychologically adjusted at the time of making the decision to terminate the pregnancy. However, opposing what has been previously reported, the women presented high levels of sadness and fear, showing that this decision was hard to make, triggering disruptive emotions.

Contraceptive Choices Pre and Post Pregnancy in Adolescence

STUDY OBJECTIVE: The main aim of this study is to evaluate the impact of adolescent pregnancy in the future contraceptive choices. A secondary aim is to verify whether these choices differ from those made after an abortion. DESIGN: Retrospective study. SETTING:Adolescent Unit of a tertiary care center. PARTICIPANTS:212 pregnant teenagers. INTERVENTIONS: Medical records review. MAIN OUTCOME MEASURES:Intended pregnancy rate and contraceptive methods used before and after pregnancy. For contraceptive choices after pregnancy we considered: Group 1 - teenagers who continued their pregnancy to delivery (n = 106) and Group 2 - the same number of adolescents who chose to terminate their pregnancy. RESULTS: The intended pregnancy rate was 14.2%. Prior to a pregnancy continued to delivery, the most widely used contraceptive method was the male condom (50.9%), followed by oral combined contraceptives (28.3%); 18.9% of adolescents were not using any contraceptive method. After pregnancy, contraceptive implant was chosen by 70.8% of subjects (P < .001) and the oral combined contraceptives remained the second most frequent option (17.9%, P = .058). Comparing these results with Group 2, we found that the outcome of the pregnancy was the main factor in the choices that were made. Thus, after a pregnancy continued to delivery, adolescents prefer the use of LARC [78.4% vs 40.5%, OR: 5,958 - 95% (2.914-12.181), P < .001)], especially contraceptive implants [70.8% vs 38.7%, OR: 4.371 - 95% (2.224-8.591), P < .001], to oral combined contraceptives [17.9% vs 57.5%, OR: 0.118 - 95% CI (0.054-0.258), P < .001]. CONCLUSION:Adolescent pregnancy and its outcome constitute a factor of change in future contraceptive choice.

Ovarian Ectopic Pregnancy in Adolescence

Ovarian pregnancy is one of the rarest types of extrauterine pregnancy. Its preoperative diagnosis remains a challenge since it presents quite similarly to tubal pregnancy and complicated ovarian cysts. Although in most cases, histology is necessary to confirm the diagnosis, we present an ovarian pregnancy in a teenager, correctly diagnosed during ultrasound examination.