Effect of multiple thrombophilic gene mutations on uterine artery blood flow in nonpregnant recurrent pregnancy loss patients: are we searching enough?

Objective: To investigate whether multiple thrombophilic mutations had a significant effect on uterine artery blood flow of nonpregnant recurrent pregnancy loss (RPL) patients.Materials and methods: Among 71 RPL patients, FV Leiden (FV), prothrombin G20210A (PTGM) and MTHFR mutations, deficiency of protein S, protein C and antithrombin III (AT3), association of Val34Leu polymorphism of the FXIII (FXIII), 4G/5G polymorphism of plasminogen activator inhibitor (PAI), -455-G/A polymorphism of ß-fibrinogen (fibrinogen), and HPA-1 a/b L33P polymorphism of GPIIIa (GPIIIa) genes were investigated. Doppler flow measurements of RPL patients and healthy controls were performed at mid-luteal phase.Results: Twenty-two patients who had no thrombophilic gene mutations were grouped as unexplained RPL. Also, while 25 patients had multiple mutations, 24 patients had single mutation. In the multiple mutation RPL group, the most frequent mutations were PAI (22%), MTHFR C677T (20%), MTHFR A1298C (19%), and fibrinogen (11%). Only in the multiple mutation RPL group, mean PI and dominant PI values were significantly higher than the control group.Conclusions: Our data showed negative effects of multiple thrombophilic gene mutations on uterine artery blood flow and clarified the different effects of single and multiple thrombophilic factors on uterine artery vasculature. It is concluded that investigating more thrombophilic mutations could ameliorate prognostic factors of RPL and interactions to improve uterine artery blood flow could bring benefit to obstetric outcome.

An effect of maternal nifedipine therapy on fetoplacental blood flow: a prospective study.

PURPOSE: The aim of this study is to assess the effects of maternal nifedipine administration on placental and fetal blood flow. METHODS: A total of 29 patients with preterm labor diagnosis admitted to the tertiary care center, Zeynep Kamil Hospital, were evaluated. Before and 24-48 h after administration of oral nifedipine, Doppler ultrasound scan was carried out to measure fetal middle cerebral artery, ductus venosus, umbilical artery, and maternal uterine artery blood flow. RESULTS: After 24 and 48 h of therapy, there were no changes in mean PI and RI in the umbilical arteries and ductus venosus (p > 0.05). Fetal middle cerebral artery and maternal uterine artery PI and RI values showed a significant reduction 24-48 h after oral nifedipine therapy (p < 0.05). CONCLUSIONS: Our study showed that 24 and 48 h after oral nifedipine therapy, there is a significant increase in fetal MCA and maternal uterine artery blood flow, while fetal umbilical artery and ductus venosus Doppler values do not change.

Prenatal diagnosis and postnatal outcome of persistent right ductus arteriosus: a report of three cases.

The ductus arteriosus is a fetal vascular connection between the main pulmonary artery and aorta that diverts blood away from the pulmonary bed. Left and right ductus arteriosi emerge from embryological aortic arches. In normal embryologic cardiac development, both right aortic and ductal arches regress and the left ones persist. Persistent right ductus arteriosus (rDA) is one of the congenital anomalies of the ductal arch. In this paper, we report three cases of persistent right ductus arteriosus with right aortic arch.

Predictive factors influencing pregnancy rates after intrauterine insemination.

BACKGROUND: So far, many studies investigated factors that affect pregnancy rates after intrauterine insemination (IUI). Various investigators have not agreed on the nature and ranking of these criteria. OBJECTIVE: The aim of this study was to assess the predictive factors for pregnancy rate after controlled ovarian hyperstimulation (COH)/ IUI. MATERIALS AND METHODS: Retrospective study of all patients undergoing IUI at Zeynep Kamil Gynecologic and Pediatric Training and Research Hospital from January 2006 to December 2009. In total 980 IUI cycles in 569 couples were analyzed. All women in the study underwent ovarian stimulation using gonadotropin and IUI was performed 36 h after triggering ovulation. The primary outcome measure was clinical pregnancy rates. Predictive factors evaluated were female age, body mass index (BMI), duration of infertility, type of infertility, follicle stimulating hormone (FSH) level and estradiol (E2) on third day of the cycle, number of preovulatory follicles, endometrial thichness, total motil sperm (TMS) count, and ratio of progressive motile sperm. RESULTS: The overall clinical pregnancy rate was 4.7%. Among the predictive factors after multivariate logistic regression analysis level of BMI (<25 kg/m²), number of preovulatory follicles (≥2), level of FSH (<9.4 IU/L), level of E2 (<80 pg/ml) and the ratio of progressive motile sperm (>50%) significantly influenced the clinical pregnancy rate. CONCLUSION: Level of BMI, FSH, estradiol, number of preovulatory follicles and the ratio of progressive motile sperm may determine IUI procedure as optimum treatment model.

Left diaphragmatic eventration associated with ipsilateral pulmonary sequestration and intrathoracic kidney in a fetus: reviewing the prenatal diagnosis and etiopathogenesis.

The prenatal diagnosis of congenital diaphragmatic eventration, pulmonary extralobar sequestration and intrathoracic ectopic kidney in a single fetus is not reported yet according to the pubmed. Congenital diaphragmatic eventration is an abnormal elevation of the diaphragm. Differential diagnosis from hernia is essential for the perinatal management. Extralobar sequestrations are usually asymptomatic and detected incidentally. Intrathoracic kidney is an extremely rare congenital anomaly. Genitourinary and cardiac anomalies should be searched as common co-existing malformations. Besides prenatal ultrasound, fetal magnetic resonance imaging has a substantial support in counselling the family, planning the follow-up of the pregnancy and decision-making for the perinatal management.

Comparison of ovulation induction and pregnacy outcomes in IVF patients with normal ovarian reserve who underwent long protocol with recombinant-FSH and highly purified-hMG.

OBJECTIVE: Gonadotropins used in controlled ovarian stimulation have been increasing in number. Beside the recombinant preparations such as rec-FSH, rec-LH and h-hMG human-derived preparations have entered the market. We decided to compare the effects of rec-FSH and HP-hMG with GnRHa on embryo quality and pregnancy outcome in women undergoing an IVF cycle. MATERIAL AND METHODS: In this study, data of 87 patients who had applied to our center from 2007 to 2008 and who had met all inclusion criteria, were analyzed. The patients underwent controlled ovarian hyperstimulation with HP-hMG, rec-FSH following down-regulation with a GnRHa in a long protocol, selected according to determined criteria and acquired embryo via IVF transfer. RESULTS: Of the 87 patients, 44 were stimulated with rec-FSH and 43 with HP-hMG. Distribution of infertility causes was similar between the groups. Duration of gonadotropin administration (p=0.677, Student's t-test) and the total dose of gonadotropin received (p=0.392, Student's t-test) were similar between the two groups. The fertilization rate of the rec-FSH group was significantly higher than the HP-hMG group (p=0.001, Mann-Whitney U test). No significant differences were observed between the study groups in biochemical, clinical and ongoing pregnancy parameters. CONCLUSION: The higher oocyte yield with rec-FSH does not result in higher quality embryos. LH activity in combination with FSH activity positively affected the oocyte and embryo maturation. Therefore, when we consider the clinical and ongoing pregnancy rates there is no inferiority of HP-hMG in controlled ovarian stimulation.

Comparison of maternal and neonatal outcomes in women with HELLP syndrome and women with severe preeclampsia without HELLP syndrome.

OBJECTIVE: To examine and to compare postpartum maternal and neonatal complications and morbidities in women with HELLP syndrome (HELLP group) and women with severe preeclampsia without HELLP syndrome (severe preeclamptic group). METHODS: In this retrospective study, 111 patients in the HELLP group were matched with 467 patients in the severe preeclamptic group according to maternal and neonatal complications and morbidities. RESULTS: The rate of transfusion of blood products and acute renal failure was significantly greater in women with HELLP syndrome. One maternal mortality (0.9 % ) was found in women withHELLP syndrome, and no maternal mortality in women in severe preeclamptic group a. There were significant differences between the HELLP group and the severe preeclamptic group in neonatal mortality and morbidity. It was found that HELLP syndrome cases had significantly lower gestational age and fetal bodyweight. The simultaneous presence of HELLP syndrome and preeclampsia, along with oliguria, ascites, thrombocytopenia, elevated liver enzymes and caesarean delivery, was associated with post-partum complications. CONCLUSION: This study shows that maternal and neonatal morbidity and mortality are increased in pregnancies complicated by severe preeclampsia with HELLP syndrome. Neonatal mortality and morbidity appear to be influenced primarily by gestational age at delivery.

Iniencephaly with mediastinal bronchogenic cyst: A case report.

OBJECTIVE: Iniencephaly is a rare neural tube defectwith consisting of a defect in the occipital bone,spina bifida of many vertebrae, and retroflexion of the head on the spine. In majorty of cases it is a le-\thal condition. METHODS: We present the first case of iniencephalywith large bronchogenic cyst diagnosed prenatally. RESULTS: At 19 week's gestation showed that fetalcardiac activity was present with normal placentaand amniotic fluid, fetus had occipital bone defect, anencephaly, retroflexion of the head, abnormally short cervicothoracic spine and posterior mediastinal unilocular anechoic cyst. Therapeutic abortion was induced. CONCLUSION: Iniencephaly is a rare condition during prenatal life. When diagnosed early in pregnancy amultidisciplinary approach is firmly suggested.

Prenatal ultrasonographical features of limb body wall complex: a review of etiopathogenesis and a new classification.

Limb body wall complex is a spectrum of multiple severe anomalies. The etiopathogenesis and clinical classification are still under discussion. In our article, while reviewing previous etiopathogenetical hypothesis, we propose a new clinical classification regarding embryological theories and pheneotypical features. According to the Van Allen diagnostic criteria, the findings of 6 affected fetuses are presented. Prenatal diagnosis was performed in 5 of 6 cases. Craniofacial malformations were present in only 1 case. Thoracic defect and abdominoschisis (either infraumbilical or supraumbilical) associated with visceral eventration, placental-umbilical cord anomalies, and limb defects were detected in the other 5 cases. Aberrant development of each of the 4 embryonic folds (cephalic, 2 lateral abdominal, and caudal) associated with faulty umbilical ring development and placental formation were considered responsible for development of various malformations. In previous clinical classifications, existence or absence of the craniofacial malformation was utilized as an unique discriminating criterion while multiple anomalies exist. In this report, we propose a new clinical classification concerning almost all anomalies caused by defective placental attachment and maldevelopment of the 4 folds.

Iniencephaly: Prenatal diagnosis with postmortem findings.

Iniencephaly is a rare but almost always lethal neural tube defect with the following cardinal features: occipital bone defect, partial or total absence of cervicothoracal vertebrae and fetal retroflexion. Iniencephaly is associated with malformations of the central nervous system, gastrointestinal and cardiovascular system. Prenatally diagnosed cases of iniencephaly are rare because careful and early ultrasonographic evaluation is necessary. The present cases of iniencephaly were found to carry associated malformations such as atrioventricular septal defect and club foot. We present an iniencephaly prenatally diagnosed by sonography, in which therapeutic abortion was induced, with a review of the published literature.

Prenatal diagnosis of thanatophoric dysplasia in the second trimester: ultrasonography and other diagnostic modalities.

Thanatophoric dysplasia is the most common type of neonatal lethal osteochondrodysplasias, with an estimated frequency of nearly of 1 in 20,000 births. It is a disorder characterized by extremely short ribs, tubular bones and macrocephaly. The prenatal diagnosis of thanatophoric dysplasia has been well established by ultrasonography in the second trimester; however it is not always possible to differentiate the thanatophoric dysplasia fetuses from the others with skeletal dysplasias like fibrochondrogenesis or atelosteogenesis by ultrasonography. Recently, mutations in the fibroblast growth factor receptor 3 gene, located on the short arm of chromosome 4 have been identified as a cause of thanatophoric dysplasia. In this article we described the prenatal diagnosis of two fetuses with thanatophoric dysplasia at 18 and 24 weeks of gestation by ultrasonography. Postpartum radiological and histological analysis confirmed our prenatal diagnosis. Our purpose was to remind the differential prenatal diagnosis with other skeletal dysplasias and new prenatal diagnostic modalities.

Prenatal sonographic diagnosis of Klippel-Trenaunay-Weber syndrome associated with umbilical cord hemangioma.

Klippel-Trenaunay-Weber syndrome (KTW), also known as angio-osteohypertrophy syndrome, is a complex developmental disorder characterized by asymmetric hemi-hypertrophy of limbs and trunk due to bony and soft tissue overgrowth that may extend across the midline, varicose veins, and cutaneous hemangiomata. This rare syndrome has been previously described in the prenatal period by ultrasonography, and in literature, there are quite different presentation of cases. We describe a case suggested as a KTW syndrome by prenatal ultrasonography. The sonographic appearance of an unilateral leg hypertrophy associated with irregular echolucent cystic areas was consistent with KTW syndrome. A spheric, weak-echogenic mass without any active blood flow located in the umbilical cord revealed by color Doppler ultrasonography was an unexpected finding. The postpartum examination confirmed the prenatal diagnosis.

Prenatal sonographic diagnosis of dilated cavum vergae.

Several cases of enlarged cavum vergae have been reported, but prenatal diagnosis of this condition is very rare. We report 3 cases of dilated cavum vergae diagnosed prenatally using sonography. In 1 of the 3 fetuses, ventriculomegaly and lumbar meningomyelocele were additional sonographic findings. In 1 of the 3 infants, a stereotactic cyst-peritoneal shunt was placed at 6 months of age to relieve intracranial hypertension due to progressive enlargement of the cavum vergae. The infant who had a meningomyelocele required surgical repair of this defect shortly after birth; in the third infant, the dilated cavum vergae remained asymptomatic, and no surgery was necessary. When interhemispheric cystic lesions are identified prenatally, physicians must distinguish them from pathologic cysts and determine whether associated malformations are present. Sonography is useful for both the differential diagnosis and identification of associated anomalies.