Metilen Tetrahidrofolat Redüktaz Enzim Mutasyonlarına Bağlı Dna Metilasyon Defektlerinde Obstetrik Sonuçlar

Poor obstetrics/perinatal outcomes in methylation defects due to methylen tetrahydrofolate reductase enzyme polymorphysim are known for a long time. In these patients who had MTHFR enzyme polymorhysim, frequencies of vascular disorders of placenta (miscarriage, intrauterine growth restriction, preterm birth, preeclampsia, and ruptures of membranes etc.) and chromosomal/non-chromosomal fetal abnormalities are increased. In this study, we compared MTHFR polymorphysim frequency, obstetrical/perinatal outcomes, success of treatment between patients who had MTHFR polymorphism and normal status for this situation. Our aim is to detect a possible relationship between perinatal complications and placental vascular diseases. We found that patients who had homozygous or compound heterozygous mutation for MTHFR enzyme had worse results when compared patients who had single heterozygous or negative status for this mutation in terms of perinatal outcomes. We found that "Beksac Obstetrics Index" decreased with increasing severity of the polymorphism. On the other hand, in terms of birth history of baby with chromosomal and non-chromosomal abnormalities, patient condensation was observed in the group with MTHFR polymorphism. Besides, we found that perinatal mortality and miscarriage rates are decreased when appropriate therapy is received. Early diagnosis led early medical therapeutic interventions and close surveillance available. The outcomes of this group should be considered in this context. We suggest that in pregnancies that MTHFR polymorphism were detected, looking for the underlying pathology and directed medical therapy may prevent most of the complications.Metilen Tetrahidrofolat Redüktaz (MTHFR) enzimindeki polimorfizm nedeniyle oluşan metilasyon bozukluklarındaki olumsuz gebelik sonuçları uzun süredir bilinmektedir. Bu hastalarda plasentanın endotel harabiyeti ile birlikte vasküler problemleri (düşükler, intrauterin gelişme geriliği, özellikle membran rüptürü ile birlikte giden preterm doğum ve preeklampsi gibi) ve kromozomal/nonkromozomal fetal anomalilerin sıklığı artmıştır. Bu çalışmada, merkezimize kötü obstetrik hikaye nedeniyle başvuran hastalarda MTHFR enzim polimorfizminin sıklığını, bu polimorfizmleri olan bireyler ile normal bireylerin obstetrik/perinatal sonuçlarını ve tedaviye yanıtlarını karşılaştırdık. Amacımız, erken ve geç gebelik komplikasyonları ile yakın ilişkisi ortaya konmuş olan endotel harabiyeti ile giden plasentanın vasküler hastalıklarının, perinatal komplikasyonlar ile olası ilişkisinin saptanmasıdır. Hastaların sonuçları karşılaştırıldığında, MTHFR enzimi için homozigot mutasyon grubundaki hastaların obstetrik sonuçları hem heterozigot mutasyonu olan hastalardan hem de mutasyonu bulunmayan hastalardan kötü olarak saptadık. "Beksaç Obstetrik İndeksi"nin (BOİ: (Yaşayan + Π/10) / Gravida)) polimorfizm şiddeti arttıkça azaldığını saptadık. Diğer yandan, kromozomal ve non kromozomal anomalili bebek öyküsü açısından hastalar değerlendirildiğine; MTHFR polimorfizmi olan gruplarda yoğunlaşma izlendi. Ayrıca, uygun tedavi uygulandığında perinatal mortalite ve abortus oranlarında azalma saptadık. Bu çalışmadaki "polimorfizm" grubu, endotel harabiyeti ile giden plasentanın vasküler hastalıkları açısından gebelik öncesinde veya gebeliğin erken döneminde taranmış ve tanısı konmuş hastalardan oluşmaktadır. Tanının gebelik öncesi veya erken gebelik döneminde konmuş olması, erken dönemde tedavi ve yakın takibi beraberinde getirmiştir. Gebelik sonuçlarının bu bağlamda değerlendirilmesi gerekmektedir. MTHFR polimorfizm olan vakalarda, altta yatan nedene yönelik araştırmaların yapılmasını ve soruna yönelik tedavilerin verilmesinin uygun olacağını saptadık

Prenatal Diagnosis of Sirenomelia

Sirenomelia is a rare and lethal congenital malformation. It is associated with a variety of anomalies and oligo/anhydramniosis. We present a case of sirenomelia detected in early second trimester presenting with anhydramniosis

Cystic Hygroma and Monosomy X

Cystic hygroma is a congenital malformation of the lymphatic system. They are associated with chromosomal abnormalities and major structural anomalies. We describe a case of cystic hygroma associated with monosomy X and termination of pregnancy at 14 weeks of gestation

Obstetric Characteristics in Women with Congenital Uterine Anomalies who Gave a Live Birth

OBJECTIVE: We retrospectively analyzed previous maternal obstetric characteristics as well as obstetric characteristics regarding the current pregnancy in thirty three consecutive pregnant patients with congenital uterine anomalies (CUA) who gave birth to a live baby at Hacettepe University Faculty of Medicine, Department of Obstetrics and Gynecology between 2005 and 2013. STUDY DESIGN: Descriptive statistics were used to describe previous maternal obstetric characteristics as well as the outcome of the successful pregnancy among different types of CUA. According to the severity of the CUA, we additionally grouped the sample into two; as minor and major mullerian fusion defect groups (mFD and MFD). We compared obstetric characteristics between these groups. RESULTS: We identified 33 patients with CUA. Among these; 14 (42,4%) were identified as septate; 6 (%18,2) as bicornuate, 7 (%21,2) as arcuate, 4 (%12,1) as didelphic, and 2 (%6,1) as unicornuate uterus. In 32 subjects the delivery procedure was caesarean section. The mFD and MFD groups were not statistically different in terms of maternal gravida, parity, dilatation and curettage (D&C) and abortion history. Besides, the two groups were similar in terms of gestational week of birth, birth weight and type of fetal presentation. CONCLUSION: Previous studies emphasize that the type of mullerian anomaly is one of the determinants of pregnancy outcome in women with CUA. However, we show that, this is not the case in women with CUA who gave birth to a live baby. Our results suggest that, type of the mullerian anomaly - if the anomaly allows a live birth - may lose its' predictive value on negative obstetric consequences

Limb Body Wall Complex: First Trimester Ultrasonographic Diagnosis of a Case with Exencephaly and Megacystis

Limb Body Wall Complex (LBWC) is a rare developmental anomaly which is classified together with midline defects. Despite the anomaly arises from an error occuring during the embryonic folding, the exact pathophysiological mechanisms are poorly understood. The clinical picture is characterized by thoracoabdominoschisis, eventration of the internal organs, limb reduction defects and sometimes craniofacial abnormalities. In this report we present (with the informed consent of the patient) the first trimester ultrasonographic diagnosis of a fetus with the classical findings of LBWC accompanied by exencephaly, megacystis and kyphoscoliosis which are rare in the literature. Today, this mortal anomaly can be diagnosed during the early weeks of gestation by ultrasonography. Prenatal detection of the anomaly is critical since offers an option of pregnancy termination

Pregnancy Outcome of Renal Transplant Recipients: Analysis of Nine Patients

OBJECTIVE: Pregnancy in renal transplant recipient was considered unsafe in the past. To date, these patients have successful pregnancy outcome. In this study, we aimed to analyze the outcome of pregnancy in kidney transplant recipients and the consequences on renal function. STUDY DESIGN: Retrospective analysis RESULTS: We found that the mean gestational age at delivery for patients were 35.22 weeks and 55.5% patients had preterm delivery and this result is higher than normal pregnant population. CONCLUSION: Pregnant women who renal transplant recipient have higher risk for preterm labor and hypertension compared normal pregnant women

Impaired Implantation and Hereditary Thrombophila; Expression of LIF (Leukemia Inhibitory Factor) on Extravillous Trophoblasts

OBJECTIVE: LIF (Leukemia İnhibitory Factor) was shown to have an important role in implantation. The aim of this study is to investigate the expression of LIF on extravillous trophoblasts in normal pregnancies and pregnancies with MTHFR (methylenetetrahydrofolate reductase) mutations. This study was also designed to demonstrate the “impaired implantation based” perinatal complications such as early pregnancy losses in pregnancies with hereditary thrombophilia (MTHFR 677 & 1298 mutations; homocystinemia and impaired folat/vitamin B12 metabolisms). STUDY DESIGN: Abortus material until 10th gestational-week were used in this study. The patients were divided into 2 groups as: Group 1; control group (unwanted induced abortions), Group 2; abortus material from pregnancies with hereditary thrombophilia. Hereditary thrombophilia cases were consisted of only MTHFR homozygote mutations (MTHFR 677 & 1298). Indirect ABC (avidin-biotin-peroxidase complex) was applied to all of the abortus material to investigate the expression of LIF. RESULTS: Expression of LIF in extravillous trophoblasts was immünohistochemically stronger (+++) in MTHFR group than the extravillous trophoblasts of the control group (++). This finding was also found to be statistically significant (p≤ 0.05). CONCLUSION: The impaired LIF expression of extravillous trophoblastic cells in MTHFR patients can be one of the reasons of early fetal losses due to impaired implantation. Direct affect of homocystinemia, cell degragates of maternal endothelial cells due to injury and thrombosis and activation of complement system may be the reasons of defective LIF synthesis. Defective LIF expression on extravillous (interstitial) trophoblasts may result in insufficient activation of the LIF receptors in the decidua and limiting their migration during placentation. On the other hand, number of the extravillous trophoblasts developing from cytotrophoblasts may also be negatively affected by the disturbed LIF expression resulting in a shallow placenta

Report of a Rare Case of Ovarian Cyst: Cystadenoma of the Rete Ovarii

The cystic formation of the rete ovarii has been described rarely in the medical literature. Before performing pathologic examination they are mostly confused with other ovarian cystic structures. Currently, with the help of the certain distinguishing features of the rete ovarii tumors, diagnosing a primary tumor of the rete ovarii is much easier. Herein we describe a case of a postmenopausal patient presenting with a right sided adnexal mass, a rare tumor of t he rete ovarii, the cystadenoma

Surgical Management of Non-Obstetric Acute Abdomen During Pregnancy: A Retrospective Review of 24 Cases After 8-Years’ Experience

Objectives: Diagnosis and management of non-obstetric acute abdomen during pregnancy is a cause of concern both for the obstetricians and the general surgeons. A resistance against operation during pregnancy leads to unnecessary delay which may increase both maternal and fetal morbidity, even mortality. In this study we present our experience in surgical management of pregnant patients with non-obstetric acute abdomen. Study Design: Pregnant patients with acute abdomen requiring surgical exploration were enrolled from 2004 to 2012. Women were excluded from the analysis if the surgical procedure was obstetric in nature. Demographics, gestational age, symptoms, operative results, postoperative complications, pregnancy outcome and imaging studies were assessed. Results: There were 24 patients with a mean age of 28,25±3.51 years. Operations are often performed in the second trimester. Most common symptoms were abdominal pain (100%) and nausea (83%). Ovarian torsion and appendicitis were the most common etiologies causing non-obstetrical acute abdomen (33% and 25%, respectively). All patients tolerated surgery well, 11 of them had no postoperative complications, however 3 fetal losses, 4 preterm deliveries, 3 PPROM, 1 re-operation and 1 vaginal bleeding were observed. One patient died from acute respiratory distress syndrome in the 24th day of the surgery. Ultrasonography was performed in 22 patients, MR imaging was used in 11 patients. Sonographic findings were diagnostic in 59%, while MR was successful in assigning the correct diagnosis in 100%. Conclusions: The issue of surgical management of non-obstetric acute abdomen during pregnancy is an important concern for clinicians who care women. Prompt diagnosis and appropriate surgical approach are the cornerstones of the management. Due to the diagnostic limitations of ultrasonography, MR imaging has become increasingly popular and gave direction to management strategy