Search

Prenatal diagnosis of aneuploidy and single-gene disorders is usually performed by collecting fetal samples through amniocentesis or chorionic villus sampling. However, these invasive procedures are associated with some degree of risk to the fetus and/or mother. Therefore, in recent years, considerable effort has been made to develop non-invasive prenatal diagnostic procedures. One potential non-invasive approach involves analysis of cell-free fetal DNA in maternal plasma or serum. Another approach utilizes fetal cells within the maternal circulation as a source of fetal DNA. At the present time, fetal gender and fetal RhD blood type within RhD-negative pregnant women can be reliably determined through analysis of maternal plasma. Furthermore, genetic alterations can be diagnosed in the maternal plasma when the mother does not have the alterations. However, the diagnosis of maternally inherited genetic disease and aneuploidy is limited using this approach. Non-invasive prenatal diagnosis through examination of intact fetal cells circulating within maternal blood can be used to diagnose a full range of genetic disorders. Since only a limited number of fetal cells circulate within maternal blood, procedures to enrich the cells and enable single cell analysis with high sensitivity are required. Recently, separation methods, including a lectin-based method and autoimage analyzing, have been developed, which have improved the sensitivity of genetic analysis. This progress has supported the possibility of non-invasive prenatal diagnosis of genetic disorders. In the present article, we discuss recent advances in the field of non-invasive prenatal diagnosis.

Objective: Although there have been reports of increased fetal nucleated erythrocytes in the blood of pregnant women who are carrying growth-restricted fetuses, there have been no reports of quantification of fetal DNA concentration in the plasma of women with fetal growth restriction. We quantified fetal DNA concentration in the plasma of pregnant women with preeclampsia and/or fetal growth restriction., Study Design: We examined maternal plasma from 9 pregnant women with fetal growth restriction and 9 with preeclampsia and from 20 women who were gestational age-matched normal control subjects. All women carried a male fetus. DNA was extracted from 1.5-mL plasma samples, and the DYS14 and beta-globin gene were analyzed by real-time quantitative polymerase chain reaction., Results: The concentration of fetal DNA was significantly higher in subjects with preeclampsia than in fetal growth restriction subjects and normal control subjects. Fetal DNA concentrations in fetal growth restriction subjects were similar to those of normal control subjects. The concentration of total DNA (beta-globin) was significantly higher in subjects with preeclampsia when compared with healthy control subjects., Conclusion: We demonstrated that there was no increase in fetal DNA in the plasma of pregnant women with fetal growth restriction and that most fetal DNA in maternal plasma originates from trophoblasts.

Retroperitoneal ectopic pregnancies are extremely rare; only a few cases having been reported. Here, we report laparoscopic removal of an asymptomatic retroperitoneal ectopic pregnancy from a 29‐year‐old woman who was referred to our hospital for a suspected ectopic pregnancy. Transvaginal ultrasound did not reveal a gestational sac in the uterus or pelvic cavity. However, abdominal contrast‐enhanced computer tomography showed a gestational sac between the abdominal aorta and inferior vena cava. On laparoscopy, the gestational sac was confirmed to be in this retroperitoneal location and successfully removed with minimal bleeding. Histopathologic examination revealed chorionic villi surrounded by lymphatic tissue, suggesting lymphatic spread of the retroperitoneal ectopic pregnancy. In summary, contrast‐enhanced computer tomography is very useful for locating the site of pregnancy in women suspected of having a retroperitoneal ectopic pregnancy. Timely diagnosis of a retroperitoneal ectopic pregnancy before bleeding occurs can enable their safe laparoscopic removal. [ABSTRACT FROM AUTHOR]

Background: Although women with polycystic ovarian syndrome (PCOS)-related sub-fertility are high responders to controlled ovarian stimulation, it is difficult to obtain mature oocytes in these women. Therefore, in vitro maturation (IVM), which is the technique of letting the contents of the ovarian follicles and the oocytes inside mature in vitro, has often been proposed in such women. We describe the first successful delivery of monozygotic triplets resulting from transfer of a single blastocyst following IVM of oocytes.Case Presentation: A 32-year-old nulligravida female with PCOS underwent IVM. She underwent vitrified-warmed single blastocyst transfer following IVM, and a dichorionic triamniotic triplet pregnancy was confirmed at 8 weeks. Healthy triplets were delivered by cesarean section at 33 weeks' gestation. This is the first case of monozygotic triplets derived from IVM oocytes that were successfully delivered. The determination of chorionicity and amnionicity is generally supposed until 3 days after fertilization, and no division or splitting of her embryo was observed on transfer. Interestingly, her embryo might have split after the transfer, resulting in a dichorionic triamniotic triplet pregnancy.Conclusions: Patients should be informed of a possible increased risk of monozygotic multiple pregnancies after single embryo transfer following IVM. [ABSTRACT FROM AUTHOR]

The vital role of folic acid is to reduce the risk of having a neonate afflicted with neural tube defects. The prevalence of neural tube defects (myelomeningocele and anencephaly) has been reported in an incomplete form over the last 40 years in Japan. We aimed to evaluate the total number of neural tube defects including those delivered or terminated, to clarify the proportion of those terminated, and to internationally compare their prevalence. Through information on >311 000 deliveries obtained from 262 hospitals/clinics for 2 years of 2014 and 2015, we identified that the rate of total neural tube defects (termination of pregnancy, live births and stillbirths) was 8.29 per 10 000 deliveries for the year 2014 and was 8.72 for 2015, which were 1.5 and 1.6 times higher than the respective values (live births and stillbirths) reported. It is also observed that the ratio of the total number of myelomeningocele (termination of pregnancy, live births, and stillbirths) to that of anencephaly was approximately 1:1.2, that a half of pregnancies afflicted with neural tube defects were terminated, and that the proportion of termination of pregnancy due to myelomeningocele and due to anencephaly was 20% and 80%, respectively. Internationally, the real prevalence of neural tube defects in Japan was comparatively high, ranking fifth among the seven developed countries. In conclusion, the real prevalence of total neural tube defects was approximately 1.5 times higher than that currently reported by the Japan Association of Obstetricians and Gynecologists. [ABSTRACT FROM AUTHOR]

Objectives: To clarify whether ultrasonographic evaluations of fetoplacental underperfusion using umbilical artery (UmA) Doppler indices at 36 weeks’ gestation can predict maternal hypertension at later gestation. Methods: Normotensive pregnant women who underwent an ultrasound scan at 36 weeks’ gestation and delivered singleton infants at term between 2012 and 2013 were prospectively enrolled. UmA Doppler and maternal blood pressure results at 36 weeks’ gestation in cases with pregnancy-induced hypertension (PIH) at later gestation were compared with a control group. Results: Thirty-nine and 775 cases were classified into the PIH and control group, respectively. The UmA pulsatility index (PI) and maternal systolic blood pressure (SBP) at 36 weeks’ gestation were higher in the PIH group than in control group (UmA-PI: 0.88 vs. 0.80,p = 0.002; SBP: 126 mmHg vs. 112 mmHg,p < 0.001). The area under the ROC curve for the prediction of PIH by combining the UmA-PI and SBP was 0.867 (95% confidence interval (CI): 0.781, 0.954). The detection rate for PIH was 64.0% with a 10% false-positive rate. Conclusions: An increased UmA-PI at 36 weeks’ gestation is associated with the occurrence of PIH at later gestation. This result may indicate the possibility to detect fetoplacental underperfusion ultrasonically. [ABSTRACT FROM AUTHOR]

Aim The aim of this study was to evaluate the effect of long-term use of tocolytic agents to prevent preterm delivery and improve perinatal outcome. Methods A historical cohort study was performed in a single perinatal center. The maternal characteristics, frequency of preterm labor and prescribed dose of tocolytic agents were compared before and after changing the management protocol for threatened premature delivery. Results A total of 1548 deliveries were carried out before changing the protocol for the use of tocolytic agents for threatened premature delivery and 1444 deliveries afterwards. There was no significant difference in the maternal characteristics before and after the revision except for maternal age. The total number of ritodrine hydrochloride ampules used was reduced from 4654 to 514, and the total vials of magnesium sulfate used were reduced from 1574 to 193, but perinatal outcomes, such as rate of preterm birth, neonatal weight, and rate of NICU hospitalization were not different between the groups. Conclusion There was no significant change in the frequency of preterm delivery before and after changing of the protocol for threatened premature delivery. Because a decrease in the given dose of tocolytic agents did not affect the timing of delivery and neonatal outcomes, long-term tocolysis in patients with threatened premature delivery should be restricted to prevent maternal and fetal adverse side-effects. [ABSTRACT FROM AUTHOR]

Objective: Maternal cigarette smoking is reportedly associated with miscarriage, fetal growth restriction and placental abruption, and is paradoxically associated with a decreased risk of developing preeclampsia. In the present study, we investigated the gene expression levels of villous tissues in early gestation. We compared the expression levels of the genes related to angiogenesis and apoptosis in the villous tissues obtained from smoking and non-smoking pregnant women. Materials and Methods: We collected villous tissue samples from 57 women requesting surgical termination due to non-medical reasons at 6–8 weeks of gestation. The maternal cigarette smoking status was evaluated by the level of serum cotinine and patients were divided into active smokers and non-smokers by the serum cotinine level. The placental levels of VEGFA, PGF, FLT1, HIF1A, TP53, BAX and BCL2 mRNA were quantified by real time PCR. Results: The gene expression level of PGF and HIF1A in the active smoker group was significantly higher than that in the non-smoker group. We did not observe any significant differences in the VEGFA or FLT1 expression between the groups. In active smoker group, the gene expression levels of TP53 and BAX were significantly higher than those in the non-smoker group. The ratio of BAX/BCL2 mRNA in the active smoker group was significantly higher than that in the non-smoker group. Conclusions: Our findings revealed that smoking might affect the placenta during early pregnancy. Maternal cigarette smoking in early pregnancy may be associated with villus hypoxia, which may influence angiogenesis and apoptosis. [ABSTRACT FROM AUTHOR]

Objective: Maternal cigarette smoking is paradoxically associated with a decreased risk of developing preeclampsia. Since preeclampsia is thought to be associated with altered mechanisms of angiogenesis and oxidative stress, we aim to investigate the influence of maternal smoking on the early placental expression of a panel of genes related to angiogenesis and oxidative stress. Material and Methods: We collected villous tissue samples at 6-7 and 10-11 weeks of gestation from 31 women requesting surgical termination. Placental expression of the following genes were quantified by real-time PCR: vascular endothelial growth factor A (VEGFA), fms-like tyrosine kinase (Flt-1), soluble endoglin (sEng), placental growth factor (PlGF), heme oxygenase-1 (HMOX-1) and superoxide dismutase (SOD). Maternal smoking status was assessed by levels of serum cotinine. Results: Placental expression of VEGFA was significantly higher in smoking women at 10-11 weeks of gestation compared with nonsmoking women at the same gestational age. There was no significant difference at 6-7 weeks of gestation. There was no variation in the expression of the other genes explored related to smoking status. Conclusions: Here we report that VEGFA placental expression was higher in smoking women at 10-11 weeks of gestation. Increased VEGFA expression in the early stages of pregnancy in smoking women might contribute to the decreased risk of developing preeclampsia. © 2014 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

We diagnosed a primipara woman with an MYH9 disorder during her pregnancy. A peripheral blood smear with an immunofluorescence analysis is the established method of diagnosing MYH9 disorders. We provided genetic counseling, as required, which included apprising the woman of the inheritance pattern, the importance of a genetic analysis, and the potential delivery risks for the patient and her offspring. Given that the potential delivery risks are reportedly low, special perinatal management is not necessary for patients with an MYH9 disorder whose platelet count is above 5.0 × 104/μL, except for rapid blood access. [ABSTRACT FROM AUTHOR]

Aim: To study the relation of umbilical cord insertion (CI) site in early gestation and placental development from the chorion villosum. Methods: We ultrasonically measured the distance between the internal cervical Os and the CI site (CID), the distance between the internal cervical Os and lower placenta edge (PLD), and placental thickness at early (10–12 weeks) and mid-gestation (18–20 weeks). Results: CID in early gestation (CID-Early) correlated with CID in mid-gestation (r2=0.171; P<0.01). CID-Early correlated with PLD in mid-gestation (r2=0.093; P<0.01). Thickness of chorion villosum or placenta in early gestation did not correlate with that at mid-gestation. Increasing thickness of placenta was significantly higher in long CID-Early (≥20 mm) cases than short cases (<20 mm) (P<0.05). Conclusions: The process of placental development and the placental location are affected by CI location at early gestation, and suggests that this process might be affected by poor blood supply from the low uterine segment when CI site is close to the internal cervical Os. [ABSTRACT FROM AUTHOR]

Objectives: It was the aim of this study to examine intrapartum fetal heart rate (FHR) patterns in oligohydramnios. Methods: Subjects comprised 24 singleton pregnant women diagnosed with oligohydramnios and 470 controls. FHR patterns were analyzed at the end of the first stage and throughout the whole second stage of labor. Numbers of variable deceleration (VD), early deceleration (ED), late deceleration (LD) and prolonged deceleration (PD) per contraction were counted. Results: Frequencies of decelerations in oligohydramnios and controls were 5.4 ± 14.5 and 2.0 ± 6.6% for ED, 0.0 and 0.4 ± 2.5% for LD, 17.6 ± 20.6 and 12.2 ± 13.3% for VD, and 1.8 ± 3.7 and 0.8 ± 3.0% for PD in the first stage of labor. In the second stage, frequencies were as follows: 5.1 ± 10.5 and 1.5 ± 6.1% for ED, 0.5 ± 1.7 and 1.0 ± 4.4% for LD, 30.1 ± 22.0 and 43.9 ± 29.3% for VD, and 29.3 ± 33.2 and 12.6 ± 22.5% for PD. Conclusions: In cases of oligohydramnios, ED occurred frequently from the first stage of labor. In the second stage of labor, the frequency of PD was extremely high and the frequency of VD was low. Copyright © 2008 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Although most patients with uterine myomas are asymptomatic during pregnancy, profound enlargement of a pedunculated myoma has serious consequences. In the present case, gradual enlargement of a pedunculated myoma was observed throughout a woman's pregnancy, worsening after delivery and causing hypovolemic shock, without evidence of external or intra-abdominal hemorrhage. Laparotomy revealed a severely edematous myoma containing a large amount of blood. It is speculated that partial occlusion had obstructed venous return, but not arterial blood flow, which caused rapid enlargement of the myoma. [ABSTRACT FROM AUTHOR]