Effectiveness of fetal cardiac screening for congenital heart disease using a combination of the four-chamber view and three-vessel view during the second trimester scan.

AIM: We aimed to assess the accuracy and effectiveness of fetal cardiac screening for congenital heart disease (CHD) during the second trimester by general obstetricians in a non-selected population. METHODS: In this multicenter, prospective cohort study of fetal cardiac screening, four-chamber and three-vessel views were recorded by obstetricians at 18-21 gestational weeks (GW). A total of 3005 fetuses that were scheduled for delivery at our institution were included. RESULTS: Thirty-seven newborns were born with CHD (1.2%). On excluding 23 cases of ventricular septal defects, the prenatal detection rate of CHD was 42.8%. Although six cases (75.0%) of severe structural abnormality were diagnosed prenatally, the prenatal detection rate of valvular abnormalities was 0%. CONCLUSION: One-point ultrasound screening of the fetal heart using a combination of four-chamber and three-vessel views at 18-21 GW by general obstetricians in a non-selected population may be useful for detecting severe structural abnormalities but not valvular abnormalities. However, this limitation may be improved by conducting another fetal cardiac screening at approximately 30 GW along with the routine use of color Doppler.

Gestational choriocarcinoma: Rare spinal metastasis during a viable pregnancy.

Gestational choriocarcinoma metastasizing to the bones, especially to the spine, is extremely rare. In addition, there are few reports of choriocarcinoma during a viable pregnancy. We report a case of gestational choriocarcinoma that metastasized to the lumbar spine during a viable pregnancy in a 41-year-old woman with a history of a missed abortion. A heterogeneous cervical mass was detected at gestational week 16. Subsequently, a metastatic lesion appeared during the pregnancy, and fetal demise in utero occurred. Pathological examination revealed that the cervical tumor and metastatic spinal tumor were choriocarcinoma. The patient's condition deteriorated rapidly and we were unable to save her life, despite multidrug chemotherapy. Surgical tumor resection and pregnancy might involve a substantial risk of choriocarcinoma metastasis. It is important to obtain an early diagnosis for this life-threatening disease in order to facilitate appropriate treatment, despite pregnancy.

Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.

We present a case of a patient whose L1CAM gene in X-chromosome has a C924T transition. Her first son's ventriculomegaly was prenatally detected. A mature infant was born, his head circumference was large, and thumbs were bilaterally adducted. X-linked hydrocephalus (XLH) was suspected. The DNA examination revealed that both her and boy's LICAM gene had a C924T transition. She became pregnant 5 years later and amniocentesis was performed. The results of cytogenetic analysis revealed that the fetus was female. She continued her pregnancy and delivered a healthy girl. She again became pregnant 3 years later. The chromosomal analysis revealed that the fetus was male. Fetal DNA analysis determined that the fetus had the inherited mutation. She chose to terminate the pregnancy. A C924T mutation can be disease causing for XLH, and the detection of this mutation would aid in genetic counseling for the prenatal diagnosis of XLH.

Preoperative ultrasound-guided needle biopsy of 63 uterine tumors having high signal intensity upon T2-weighted magnetic resonance imaging.

OBJECTIVE: The differential diagnosis between uterine sarcoma and benign leiomyoma is difficult when made only by magnetic resonance imaging (MRI); it usually requires an additional preoperative diagnostic procedure. We report our results using ultrasound-guided needle biopsy for these types of uterine tumors. METHODS: Ultrasound-guided needle biopsy was performed on 63 patients with uterine smooth muscle tumors suspected of malignancy by MRI. We compared the results of presurgical biopsy against the postsurgical pathology of the tumor. RESULTS: Among 63 patients with a high signal intensity of the uterine tumor on T2-weighted MRI (1 case was undetermined), 12 cases (19.3%) were diagnosed by the needle biopsy as malignant, and 51 cases (80.6%) were benign. Among the 12 diagnosed as malignant tumors, 11 had surgery performed, and one was treated with chemotherapy. Among the 51 patients diagnosed with a benign tumor, 27 had surgery performed, and 24 were put on a wait-and-see clinical follow-up schedule. One of the 27 surgical patients with a benign tumor had a postsurgical diagnosis of a low-grade endometrial stromal sarcoma. In the 38 cases where surgery was performed, we found the sensitivity, specificity, and the positive and negative predictive values of the needle biopsy were 91.7%, 100%, 100%, and 96.2%, respectively. CONCLUSIONS: Ultrasound-guided needle biopsy may be a reliable preoperative diagnostic procedure for uterine tumors with suspected malignancy.

Twins with neonatal pemphigus vulgaris born to a mother with pemphigus vulgaris: a case report.

Dichorionic diamniotic twins were born at 37 weeks of gestation by cesarean section to a 34-year-old primigravid Japanese woman because the first twin was in breech presentation. The mother had been diagnosed with pemphigus vulgaris prior to her pregnancy. In addition to a high antidesmoglein 3 autoantibody titer, flaccid bullae and erosions on both of the twins' lips and in their oral cavities at 13 days of age led to the diagnosis of neonatal pemphigus vulgaris. This case highlights the need for awareness that pemphigus vulgaris may not occur immediately after birth.

Pregnancy complicated by uterine sacculation due to a huge myoma.

Uterine sacculation is rare complication affecting the pregnant uterus, and is difficult to diagnose. Sacculation consists of a transitory pouch or sac-like structure caused by inverted uterine polarity. Vaginal delivery is difficult, and even cesarean section can be difficult because of peculiar risks associated with uterine sacculation. We report a pregnant patient with posterior sacculation due to a huge myoma in the lower anterior uterine segment. Sacculation, especially that complicated by a huge myoma, is very difficult to accurately diagnose and makes cesarean section surgery challenging. Because of the myoma in our present case, opening the lower uterine segment was impossible with cesarean section. The uterus was instead opened by corporeal vertical cesarean section. Myomectomy was not performed and the giant myoma thus remained. Postoperative assessment revealed the uterus to still be retroverted. The giant myoma was the cause of sacculation in this case.

Changes in fetal circulation associated with congenital heart disease and their effects on fetal growth.

OBJECTIVE: Our aim was to investigate the association between fetal growth and cerebrovascular resistance in fetuses with congenital heart disease (CHD). METHODS: Fetal echocardiography was performed to measure the biparietal diameter, abdominal circumference, femur length, estimated fetal body weight, middle cerebral artery (MCA) resistance index (RI) and umbilical artery (UA) RI in 44 fetuses with CHD and 140 normal fetuses at a gestational age of 28-34 weeks. RESULTS: Fetuses with CHD exhibited significantly lower values for femur length, estimated fetal body weight at the third trimester, body weight, length, and chest circumference at birth than normal controls. The percentages of fetuses showing MCA RI values <10th percentile and UA RI values >90th percentile were significantly higher in the CHD group than in the control group. However, there were no significant differences in any biometric parameters measured between cases with MCA RI values ≥10th percentile and values <10th percentile. CONCLUSIONS: Growth restriction and blood flow changes were observed significantly more frequently in fetuses with CHD than in those without CHD. Further studies are necessary to clarify the association between fetal growth and dynamic changes in fetal circulation.

Successful twin pregnancy in a patient with parkin-associated autosomal recessive juvenile parkinsonism.

BACKGROUND: Pregnancy in patients with Parkinson disease is a rare occurrence. To the best of our knowledge, the effect of pregnancy as well as treatment in genetically confirmed autosomal recessive juvenile parkinsonism (ARJP) has never been reported. Here, we report the first case of pregnancy in a patient with ARJP associated with a parkin gene mutation, ARJP/PARK2. CASE PRESENTATION: A 27-year-old woman with ARJP/PARK2 was diagnosed as having a spontaneous dichorionic/diamniotic twin pregnancy. Exacerbation of motor disability was noted between ovulation and menstruation before pregnancy as well as during late pregnancy, suggesting that her parkinsonism might have been influenced by fluctuations in the levels of endogenous sex hormones. During the organogenesis period, she was only treated with levodopa/carbidopa, although she continued to receive inpatient hospital care for assistance in the activities of daily living. After the organogenesis period, she was administered sufficient amounts of antiparkinsonian drugs. She delivered healthy male twins, and psychomotor development of both the babies was normal at the age of 2 years. CONCLUSION: Pregnancy may worsen the symptoms of ARJP/PARK2, although appropriate treatments with antiparkinsonian drugs and adequate assistance in the activities of daily living might enable successful pregnancy and birth of healthy children.

A case report of fatal tumor lysis syndrome after chemotherapy in a pregnant patient with Burkitt's lymphoma.

A 35-year-old Japanese woman in the 24th week of gestation with bilateral breast enlargement was referred to hospital. She was diagnosed with Burkitt's lymphoma and admitted for detailed evaluation and treatment. Early delivery and subsequent chemotherapy was chosen after considering the gestational week, her general condition and the wishes of the patient and her husband. She gave birth to a male infant by cesarean section in the 25(th) week of gestation. It had been planned to begin high-dose chemotherapy, such as CODOX-M/IVAC, on day 7 of the puerperium; however, her general condition worsened and chemotherapy was therefore begun on day 2 after the birth. Eight hours after chemotherapy (cyclophosphamide, vincristine and doxorubicin), she developed cardiac arrest due to tumor lysis syndrome. Despite medical treatment, her bleeding tendency did not improve and she died of respiratory failure with alveolar bleeding five days after chemotherapy.

Morgagni hernia with massive pericardial effusion diagnosed in the second trimester: prenatal diagnosis and perinatal management.

Morgagni hernia is an extremely rare form of congenital diaphragmatic hernia. Only 6 cases of this condition have been reported in the English literature, as diagnosed prenatally. The prognosis of the disease is determined by the severity of the pulmonary hypoplasia and associated anomalies. Here we report a case of Morgagni hernia with massive pericardial effusion diagnosed by ultrasonography and MRI during the second trimester, enabling planning of appropriate treatment in the pre- and perinatal periods.

Clinical significances of magnetic resonance imaging in prenatal diagnosis of vasa previa in a woman with bilobed placentas.

We report a case of a pregnant woman diagnosed as having vasa previa by magnetic resonance imaging (MRI). A parous woman was referred to our hospital at 31 weeks of gestation due to suspicion of placenta previa. Transvaginal ultrasound examination together with the Doppler techniques showed a fetal vessel on a lesion of low and high mixed echogenecities over the internal os, but could not confirm whether it was placental tissue or not. MRI demonstrated that it was not placenta but a hemorrhage between bilobed placentas and that the vessel was running over the internal os freely from the placenta. At 34 weeks of gestation, emergency cesarean section was performed due to increasing vaginal bleeding. MRI should be useful in the diagnosis of vasa previa when the relation between the position of the placenta and that of suspicious vessels cannot be adequately evaluated by ultrasound.

A case study of a pregnant patient with a congenital heart block accompanied by left isomerism and uncontrolled type 2 diabetes who was treated successfully with ritodrine.

We present a case study of a patient with a congenital heart block associated with a left isomerism that was diagnosed during the 26th week of gestation. The mother had type 2 diabetes mellitus that was difficult to control during the early stages of the pregnancy. A fetal echocardiogram revealed an atrioventricular dissociation, with an atrial rate of 120 bpm and a ventricular rate of 55 bpm. Subsequent examinations also revealed a left isomerism in the fetus. To increase the fetal heart rate, a continuous intravenous infusion of ritodrine was administered. The fetal ventricular rate rapidly increased to 65 bpm. The pregnancy successfully continued until term and a female infant weighing 3,182 g was born via a cesarean section. A subsequent surgery was performed to provide the infant with a permanent cardiac pacemaker, and notably, the child is now 4 months of age and her growth has been within the normal range.

Large pseudocyst of the umbilical cord detected in the second trimester.

We present a case of a large umbilical cord cyst detected at 21 weeks of gestation. Serial ultrasonographic examination revealed a single umbilical artery and progression of the cystic mass. A 2,842-g male infant was delivered at 37 weeks of gestation, and we confirmed that the umbilical cord cyst was a pseudocyst in our pathological examination. This case demonstrated an uneventful course of pregnancy despite the large umbilical cord pseudocyst.

A Case of Infantile Cardiac Rhabdomyoma Complicated by Tuberous Sclerosis.

We experienced a case with fetal cardiac tumor, which was diagnosed by prenatal ultrasonographic examination, and the diagnosis was confirmed after birth. A pregnancy woman of the 26th week of gestation was referred to our hospital for close examinations of fetal cardiac tumor. Ultrasonographic examinations revealed single homogeneous tumor with the diameter of 14 mm intracardiac space. The tumor was considered to emerge from the ventricular septum and to be occupied in left ventricle. Other cardiac abnormalities were not detected. The fetus was diagnosed to be complicated with the intracardiac tumor, and with the possible rhabdomyoma of heart. The serial ultrasonographic examinations revealed that the fetal cardiac function was normal. The size of the tumor gradually increased, although the fetal cardiac function revealed within normal range. The patient delivered a female infant weighing 2716g with the Apgar score of 9 and 10 at one and 5 minutes after delivery. The infant was confirmed to have cardiac tumors after examination by pediatric cardiologist, and the cardiac function of the infant was diagnosed as normal condition. The computed tomography of the head revealed the intracranial multiple calcification lesions, which indicated the symptoms of tuberous sclerosis.

Management of patients with pregnancy-associated gastric cancer in Japan: a mini-review.

Gastric cancer associated with pregnancy is quite rare, and is most often diagnosed at an advanced stage. Furthermore, physicians are confronted with two conflicting issues in this condition: the need for early treatment of the maternal gastric cancer and the continuation of the pregnancy. To clarify the characteristics of pregnancy-associated gastric cancer and to obtain useful information that would help us choose the best treatment strategy for pregnancy-associated gastric cancer, we reviewed the existing literature, using the key words "pregnancy" and "gastric cancer". We were able to accumulate 136 cases, including 100 cases reported previously in Japan, and 1 case that we report here. We analyzed a total of 137 cases in the present study. With respect to the stage of gastric cancer, 92.5% of the patients studied had advanced gastric cancer, and only 45.3% of the patients underwent gastrectomy, including incomplete resection. Accordingly, the prognosis was very poor; the 1- and 2-year survival rates were 18.0% and 15.1%, respectively. However, the number of patients found to have early gastric cancer by endoscopic examination has been increasing recently. An endoscopic examination should be conducted immediately in pregnant patients presenting with persistent gastrointestinal symptoms for the differential diagnosis of hyperemesis gravidarum. When an endoscopic examination reveals that pregnant patients have gastric cancer, a therapeutic plan should be promptly formulated, in accordance with the number of weeks of gestation, by a medical team consisting of specialists in perinatal obstetrics and gastric cancer specialists.

Leptin regulation of proangiogenic molecules in benign and cancerous endometrial cells.

Several proangiogenic/proinflammatory factors involved in endometrial cancer are regulated by leptin, but the signaling mechanisms responsible for these leptin-induced actions are largely unknown. Here, we report that in benign (primary and HES) and cancerous-endometrial epithelial cells (EEC) (An3Ca, SK-UT2 and Ishikawa), leptin in a dose-dependent manner regulates vascular endothelial growth factor, (VEGF); interleukin-1 beta, (IL-1beta); leukemia inhibitory factor, (LIF) and their respective receptors, VEGFR2, IL-1R tI and LIFR. Remarkably, leptin induces a greater increase in VEGF/VEGFR2 and LIF levels in cancer than in benign cells. However, IL-1beta was only increased by leptin in benign primary-EEC. Cancer-EEC expressed higher levels of leptin receptor (full-length OB-Rb and short isoforms) in contrast to benign primary-EEC. Leptin-mediated activation of JAK2 (janus kinase 2) was upstream to the activation of PI-3K (phosphatidylinositol-3 kinase) and/or MAPK (mitogen-activated protein kinase) signaling pathways. Leptin induction of cytokines/receptors generally involved JAK2 and MAPK activation, but PI-3K phosphorylation was required for leptin increase of LIF, IL-1/IL-1R tI. Leptin-mediated activation of mTOR (mammalian target of Rapamycin), mainly linked to MAPK, played a central role in leptin regulation of all cytokines and receptors. These results suggest that leptin's effects are cell-specific and could confer a proliferative or cell survival advantage or possibly promote endometrial thickness. Leptin's effects on proangiogenic molecules were more evident in malignant versus benign cells and may imply that there is an underlying shift in leptin-induced cell signaling pathways in endometrial cancer cells.

Enhancement of gene expression efficiency using cationic liposomes on ovarian cancer cells.

We performed transfection using cationic liposome. According to the gene expression level, lined cells were divided into two groups, high and low. Introduced gene was monitored with a confocal laser-scanning microscope. The percentages of the cells introduced gene reached more than 90% in all line. Then, introduced gene was stable in high group, while in low group, it significantly decreased. With lysosomotrophic agents, gene expression efficiency was significantly reduced.With colchicine, gene expression efficiency did not change in high group, but was significantly elevated in low group. A method of liposomal transfection could be effective, particularly in low group.

Adenocarcinoma arising from respiratory ciliated epithelium in benign cystic teratoma of the ovary: a case report with analyzes of the CT, MRI, and pathological findings.

The malignant transformation of mature cystic teratoma is rare, thus occurring in only 1-2% of all cases. The most common malignancy arising in mature cystic teratoma is squamous cell carcinoma. Adenocarcinoma occurs with less frequency. We herein present a patient with an ovarian mature cystic teratoma who demonstrated a malignant transformation to well-differentiated adenocarcinoma. Malignant transformation was diagnosed preoperatively by contrast enhanced computed tomography (CT) and magnetic resonance imaging (MRI). Microscopically and immunohistochemically, the adenocarcinoma was considered to have arisen from the ciliated respiratory epithelium. After a 28-month of follow-up period, she remains free of the disease. This is the third reported case of adenocarcinoma arising in the respiratory epithelium of an ovarian mature cystic teratoma. Contrast enhanced CT and MRI are useful for making a preoperative diagnosis and an immunohistochemical study is helpful for defining its origin.

Mechanisms of Cables 1 gene inactivation in human ovarian cancer development.

Cables 1, a cyclin-dependent kinase binding protein, is primarily involved in cell cycle regulation. Loss of nuclear Cables 1 expression is observed in human colon, lung and endometrial cancers. We previously reported that loss of nuclear Cables 1 expression was also observed with high frequency in a limited sample set of human ovarian carcinomas, although the mechanisms underlying loss of nuclear Cables 1 expression remained unknown. Our present objective was to examine Cables 1 expression in ovarian cancer in greater detail, and determine the predominant mechanisms of Cables 1 loss. We assessed potential genetic and epigenetic modifications of the Cables 1 locus through analyses of mutation, polymorphisms, loss of heterozygosity and DNA methylation. We observed a marked loss of nuclear Cables 1 expression in serous and endometrioid ovarian carcinomas that correlated with decreased Cables 1 mRNA levels. Although we detected no Cables 1 mutations, there was evidence of LOH at the Cables 1 locus and epigenetic modification of the Cables 1 promoter region in a subset of ovarian carcinomas and established cancer cell lines. From a functional perspective, over-expression of Cables 1 induced apoptosis, whereas, knockdown of Cables 1 negated this effect. Together these findings suggest that multiple mechanisms underlie the loss of Cables 1 expression in ovarian cancer cells, supporting the hypothesis that Cables 1 is a tumor suppressor in human ovarian cancer.