Complete hydatidiform mole with a coexisting foetus of term pregnancy: A case report and review of the literature.

A case of a complete mole with a full term live foetus misdiagnosed as placental mesenchymal dysplasia prenatally is being reported here. The infant was delivered at term, and the placenta was accompanied with molar changes. Both the mother and baby were healthy with no complications at one-year follow-up. This report systematically summarises identification methods to reduce the rate of misdiagnosis for better pregnancy outcomes.

The association between alteration of maternal lipid levels and birthweight at term: A within-family comparison.

Context: Maternal lipid levels affect birthweight and the long-term health of the offsprings. However, this association could be influenced by genetic and other common factors. Objective: This work aimed to explore the relationship between maternal lipid levels and birthweight of two pregnancies in the same mother. Methods: In this population-based cohort study, 705 women and their 1 410 offsprings were included. From an initial sample of women with more than one singleton birth in the database, we made the following exclusions: missing data for pre-pregnancy BMI, pregnancy weight gain, birthweight and lipid values; maternal age less than 19 or older than 44 years old; gestational age < 37 weeks or > 41weeks, gestational diabetes mellitus/diabetic. In the second and third trimesters, serum samples were collected for the determination of fasting total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol (LDL-C) levels. Then we assessed the association between maternal lipids and birthweight. Results: Infants of women whose 2nd-trimester TC increased by 10th-20th percentile (-0.92~-0.56 mmol/L) from 1st to 2nd pregnancy were 239.69 (62.32~417.06) g lighter at birth than were infants of women those of 40th-50th percentile (-0.20~-0.03 mmol/L). Parity, gestational age, neonatal gender, maternal pre-pregnancy body mass index, maternal weight gain, and 3rd-trimester TC and HDL-C were all associated with higher birth weight. Every unit increase in TC in the third trimester increases birthweight by 53.13 (14.32 ~91.94) g. Conclusion: Maternal TC level is associated with birthweight independent of shared genes. TC may be used to guide diet and predict birthweight combined with ultrasound and other indicators.

Magnetic Resonance Imaging-Based Nomogram to Antenatal Predict Cesarean Delivery for Cephalopelvic Disproportion in Primiparous Women.

BACKGROUND: Cephalopelvic disproportion (CPD)-related obstructed labor is associated with maternal and neonatal morbidity and mortality. Accurate prediction of whether a primiparous woman is at high risk of an unplanned cesarean delivery would be a major advance in obstetrics. PURPOSE: To develop and validate a predictive model assessing the risk of cesarean delivery in primiparous women based on MRI findings. STUDY TYPE: Prospective. POPULATION: A total of 150 primiparous women with clinical findings suggestive of CPD. FIELD STRENGTH/SEQUENCE: T1-weighted fast spin-echo sequences, single-shot fast spin-echo (SSFSE) T2-weighted sequences at 1.5 T. ASSESSMENT: Pelvimetry and fetal biometry were assessed independently by two radiologists. A nomogram model combined that the clinical and MRI characteristics was constructed. STATISTICAL TESTS: Univariable and multivariable logistic regression analyses were applied to select independent variables. Receiver operating characteristic (ROC) analysis was performed, and the discrimination of the model was assessed by the area under the curve (AUC). Calibration was assessed by calibration plots. Decision curve analysis was applied to evaluate the net clinical benefit. A P value below 0.05 was considered to be statistically significant. RESULTS: In multivariable modeling, the maternal body mass index (BMI) before delivery, bilateral femoral head distance, obstetric conjugate, fetal head circumference, and fetal abdominal circumference was significantly associated with the likelihood of cesarean delivery. The discrimination calculated as the AUC was 0.838 (95% confidence interval [CI]: 0.774-0.902). The sensitivity and specificity of the nomogram model were 0.787 and 0.764, and the positive predictive and negative predictive values were 0.696 and 0.840, respectively. The model demonstrated satisfactory calibration (calibration slope = 0.945). Moreover, the decision curve analysis proved the superior net benefit of the model compared with each factor included. DATA CONCLUSION: Our study might provide a nomogram model that could identify primiparous women at risk of cesarean delivery caused by CPD based on MRI measurements. EVIDENCE LEVEL: 2 TECHNICAL EFFICACY: Stage 2.

NLRP3 inflammasome activation in gestational diabetes mellitus placentas is associated with hydrogen sulfide synthetase deficiency.

The placenta may play a key role in the activation of inflammation and initiation of insulin resistance (IR) during gestational diabetes mellitus (GDM) pathogenesis. Interleukin (IL)-1ß and IL-18, regulated by NLR family pyrin domain containing-3 (NLRP3) inflammasome, are important inflammatory cytokines in the initiation of maternal IR during GDM. However, the mechanism responsible for the regulatory of NLRP3 inflammasome in placenta remains unknown. Hydrogen sulfide (H2S) exerts anti-inflammatory function partially via suppressing the activation of the NLPR3 inflammasome. The present study aimed to investigate the role of NLRP3 inflammasome, H2S synthetase cystathionine-γ-lyase (CSE) and cystathionine-ß-synthetase (CBS) in placenta in the pathogenesis of GDM. Clinical placenta samples were collected from pregnant women with GDM (n=16) and healthy pregnant women at term (n=16). Western blot analysis was performed to detect the protein expression levels of NLRP3, cleaved caspase-1, CBS and CSE in the placenta samples. Pearson's correlation analysis was performed to assess the correlation between NLRP3 inflammasome and H2S synthetase. Human placental cells were cultured and treated with different concentrations of NaHS (0, 10, 25 and 50 nmol/l) or L-cysteine (0, 0.25, 0.50 and 1.00 mmol/l). In addition, western blot analysis was performed to detect the protein expression levels of NLRP3 and cleaved caspase-1, while ELISA was performed to measure the production of IL-1ß and IL-18 in the culture media. The results demonstrated that the expression levels of NLRP3 and cleaved caspase-1 increased, while the expression levels of CBS and CSE decreased in the placenta samples. In addition, the expression levels of NLRP3 and cleaved caspase-1 were inversely correlated with the expression levels of CBS and CSE. Notably, NaHS and L-cysteine significantly suppressed the expression levels of NLRP3 and cleaved caspase-1, and the production of IL-1 and IL-18 in human placental cells. Taken together, the results of the present study suggest that H2S synthetase deficiency in placenta may contribute to excessive activation of NLRP3 inflammasome in GDM.

Alterations of the Human Gut Microbiota in Intrahepatic Cholestasis of Pregnancy.

Background and Aims: Women with severe intrahepatic cholestasis of pregnancy (ICP) are at higher risks of fetal complications and without effective treatments. Changes in gut microbiota in pregnancy were found to be related to the altered intestinal bile acid composition, so we aimed to explore the alterations of microbiota in the gut of ICP patients. Methods: A total of 90 women were recruited, including 45 ICP patients and 45 healthy controls. The gut microbiota communities of ICP group were compared to control group through 16S ribosomal RNA gene sequencing. The results were then confirmed by real-time polymerase chain reaction (PCR) and generalized linear model (GLM). Furthermore, we analyzed the relationships between microbiota and the severity of ICP. Results: A total of seven genera and nine taxa with differential abundances between the ICP patients and the controls were identified. All of the seven genera were verified through real-time PCR, and three key genera Parabacteroides, Flavonifractor, and Megamonas were confirmed by using the GLM model. Further analysis found that the genera Escherichia_Shigella, Olsenella, and Turicibacter were enriched in the severe ICP group, the microbial gene function related to biosynthesis of unsaturated fatty acids and propanoate metabolism were also increased in them. Conclusions: Overall, our study was the first in Asia to demonstrate an association between gut microbiota and ICP. Our findings would contribute to a better understanding of the occurrence of ICP.

TGFBI is involved in the formation of polyploid cancer cells and the response to paclitaxel.

BACKGROUND: Most human solid tumors are aneuploid; at the same time, polyploid cancer cells are found to be resistant to radiotherapy and chemotherapy and have a poor prognosis. The transforming growth factor beta induction (TGFBI) protein plays important roles in the development of tumors, depending on the cancer of origin. METHODS: In this study, we established polyploid clones of breast cancer treated with nocodazole. The drug sensitivity was measured by MTT assay. Western blot analysis was used to detect the expression of TGFBI protein in polyploid clones. The effects of paclitaxel on apoptosis, cell cycle and DNA ploidy were analyzed by flow cytometry. TGFBI protein expression was performed in samples from patients with epithelial ovarian tumors by immunohistochemical staining. RESULTS: We found that compared with the MDA-MB-231 cell line, the expression of TGFBI in the HGF1806 cell line was relatively higher. In addition, compared with its parental cells, TGFBI showed relatively low expression in the polyploid breast cancer cell line T-MDA-MB-231. Compared with the empty vector, under paclitaxel treatment, the over-expression of TGFBI in MDA-MB-231 and T-MDA-MB-231 both showed a higher growth inhibition rate. After nocodazole treatment, the over-expression of TGFBI in MDF-MB-231 cells proved that the expression of tetraploid cells was lower compared to the control. The positive rate of TGFBI expression in ovarian cancer specimens before chemotherapy was 33.3% (5/15), which was higher than the positive rate of TGFBI expression in ovarian cancer specimens matched with relapsed specimens after treatment (0%, 0/15). CONCLUSIONS: TGFBI can increase the sensitivity of paclitaxel in polyploid cancer cells and participate in the formation of polyploidy in MDA-MB-231 induced by nocodazole. This newly recognized role of TGFBI provides further insight into the pathogenesis of polyploid cancer and identifies potential new therapeutic targets.

Second-trimester and third-trimester maternal lipid profiles significantly correlated to LGA and macrosomia.

BACKGROUND: According to the theory of fetal-derived adult diseases, abnormal fetal development might affect the occurrence of diseases in adulthood, and appropriate fetal growth status intrauterine might have a beneficial effect on it. To adapt properly for fetal development, there are numerous changes in the maternal physiology during pregnancy, including blood lipid metabolism. The aim of this study is to evaluate the association between lipid profiles in the second and third trimesters of normal pregnancy and fetal birth weight. MATERIALS AND METHODS: The study population was derived from 5695 pregnant women, who maintained routine prenatal care at the women's hospital of Zhejiang University, School of medicine January 1, 2014, and December 31, 2014. The pregnant women in this study all carried uncomplicated singleton pregnancies to at least 37 weeks. RESULTS: The mean (standard deviation) birth weight was 3361.00 (385.94) g; 413 (7.3%) of the infants were large for gestational age, and 330 (5.8%) were macrosomia. On multiple linear regression analysis, positive determinants of birth weight were gravidity, parity, gestational age at delivery, male infant, maternal height, and weight before pregnancy, weight gain during pregnancy, fasting blood glucose (FBG) level, second-trimester cholesterol (TC) and third-trimester triglyceride (TG), gestational albumin (ALB), and third-trimester high-density lipoprotein (HDL-C) levels were each negatively associated with birth weight. On logistic regression analysis, the significant metabolic lipid predictors of delivering a large-for-gestational-age infant were second- and third-trimester TG (aOR = 1.178, 95% CI 1.032-1.344, p = 0.015; aOR = 1.106, 95% CI 1.043-1.173, p = 0.001, respectively) and second- and third-trimester HDL-C level (aOR = 0.655, 95% CI 0.491-0.874, p = 0.004; aOR = 0.505, 95% CI 0.391-0.651, p < 0.001, respectively). Third-trimester TG and HDL-C were stable predictors of large-for-gestational-age infants in stratification analysis. High TG and low HDL-C level during third trimester could be considered as indicators of a high risk of large for gestational age (LGA) and macrosomia, regardless of infant gender. CONCLUSION: These results suggest that future lifestyle programs in women of reproductive age with a focus on lowering TG levels (i.e., diet, weight reduction, and physical activity) may help to reduce the incidence of LGA and macrosomia.

Predictive value of cervical length by ultrasound and cervical strain elastography in labor induction at term.

OBJECTIVE: This study aimed to examine whether addition of cervical elastographic parameters measured by ElastoScan for the cervix (E-cervix) improves the predictive value of cervical length (CL) in induction of labor at term by dinoprostone. METHODS: We conducted a prospective, observational study between January 2020 and June 2020 in term primiparous women (n = 73) who were scheduled for labor induction by a 10-mg dinoprostone vaginal insert. The time intervals from the start of labor induction to regular uterine contractions and to vaginal delivery were calculated as the primary outcomes. We divided subjects into two groups using a threshold of 24 hours. Ultrasound measurements were compared between the two groups and the area under the curve (AUC) of the prediction model was calculated. RESULTS: Women who delivered vaginally within 24 hours had a shorter CL and softer cervix than those who delivered after 24 hours. The combination of CL and elastographic parameters increased the AUC to 0.672 compared with CL alone (AUC = 0.637). CONCLUSIONS: Measurement by E-cervix is relatively reproducible. Addition of cervical strain elastography slightly improves the predictive performance of CL in vaginal delivery within 24 hours. This technique is a promising ancillary tool for use with ultrasound.

The prenatal ultrasonic character and postnatal follow-up of 227 microcystic and macrocystic congenital cystic adenomatoid malformations.

The objective of our study was to compare microcystic and macrocystic congenital cystic adenomatoid malformation (CCAMs) through prenatal characteristics, perinatal outcome, postnatal management and development after consultation in our prenatal diagnosis centre. We conducted a retrospective cohort study of 227 cases prenatally diagnosed as CCAM in our hospital within three years. One hundred and eighty-one cases continued their pregnancy and 46 pregnancies were terminated. One hundred and fifteen of 227 cases were microcystic and 112 were macrocystic. The prenatal ultrasound characteristics of two types showed no statistically significant differences, despite that CVR of macrocystic CCAMs was mildly greater than microcystic. None of recorded cases received surgical intervention in utero. Compared with healthy foetuses, CCAMs presented with higher percentage of polyhydramnios and male foetuses, larger amount of postpartum blood loss and longer duration of NICU hospitalisation. Compared with 46 legal abortions, continued pregnancy cases had a smaller CVR, less polyhydramnios, cardiac shift and hydrops. One hundred and seventy-nine cases were followed up after birth and 174 babies were asymptomatic. Thirty one cases received successful surgical resection. In conclusion, the prenatally diagnosed CCAMs have a good short-term prognosis and conservative management is a reasonable option in asymptomatic fetuses. Microcystic and macrocystic CCAMs both presented similar prenatal courses and perinatal prognoses. Conservative management, prenatally and postnatally, could be accepted in selected cases.Impact statementWhat is already known on this subject? Congenital cystic adenomatoid malformation is a well-known developmental abnormality of the lung. The prognosis for most CCAMs is good, but the prenatal and postnatal management remains controversial.What do the results of this study add? This study is one of the largest case cohorts to conclude that microcystic and macrocystic CCAMs both presented similar prenatal courses and perinatal prognoses. Conservative management is a reasonable option in asymptomatic babies.What are the implications of these findings for clinical practice and/or further research? A comprehensive assessment by an experienced multidisciplinary team is necessary to forbid blinding abortions of CCAMs. Conservative management prenatally and postnatally could be accepted in most asymptomatic cases.

Placental maternally expressed gene 3 differentially methylated region methylation profile is associated with maternal glucose concentration and newborn birthweight.

AIMS/INTRODUCTION: Emerging evidence shows that epigenetic modifications occurring during fetal development in response to intrauterine exposures could be one of the mechanisms involved in the early determinants of adult metabolic disorders. This study aimed to investigate whether the placental maternally expressed gene 3 (MEG3) deoxyribonucleic acid (DNA) methylation profile is associated with maternal gestational diabetes mellitus status and newborn birthweight. MATERIALS AND METHODS: Samples for measurement were collected from 23 women with gestational diabetes mellitus and 23 healthy controls. MEG3 gene expression and DNA methylation levels were assessed using quantitative real-time polymerase chain reaction and MethylTargetTM, respectively. Pearson correlation analyses were used to examine associations between placental DNA methylation levels and clinical variables of interest. The associated results were adjusted by multivariate linear regression for maternal age, body mass index, height, gestational age and newborn sex as confounders. RESULTS: We found that the DNA methylation levels in the MEG3 differentially methylated region were significantly different between the gestational diabetes mellitus and control groups on the maternal side of the placenta (40.64 ± 2.15 vs 38.33 ± 2.92; P = 0.004). Furthermore, the mean MEG3 DNA methylation levels were correlated positively with maternal fasting glucose concentrations (R = 0.603, P < 0.001) and newborn birthweight (R = 0.568, P < 0.001). CONCLUSIONS: The placental DNA methylation status in the MEG3 differentially methylated region was correlated with maternal glucose concentrations and newborn birthweight. These epigenetic adaptations might contribute to late-onset obesity, underlining the adverse intrauterine environment.

Anticardiolipin Positivity Is Highly Associated With Intrauterine Growth Restriction in Women With Antiphospholipid Syndrome.

The purpose of our study was to evaluate pregnancy outcomes of women with antiphospholipid antibodies (aPL) positivity and assess risk factors associated with adverse pregnancy outcomes. Pregnant women with aPL positivity were enrolled prospectively in China from January 2017 to March 2020. Treatment of low-dose aspirin and low molecular weight heparin were given. Pregnancy outcomes and coagulation function were recorded and compared with normal pregnancies. Multivariable logistic regression was performed to identify risk factors associated to intrauterine growth restriction (IUGR). 270 pregnant women, including 44 diagnosed as Antiphospholipid syndrome (APS), 91 as non-criteria APS (NCAPS) and 135 normal cases as control, were enrolled in the study. The live birth rate in aPL carriers and APS group was 97% and 95.5%, respectively. Adverse pregnancy outcomes did not show significant difference between aPL carriers and normal pregnancies, and between APS and NCAPS, except for IUGR. The incidence of IUGR was significantly higher in aPL carriers than normal pregnancies, and in APS patients than NCAPS (P < 0.05). After controlling for age, in vitro fertilization (IVF), pregnancy losses related to APS and treatment, anticardiolipin (aCL) positivity was the only variable significantly associated with IUGR, with an adjusted odds ratio of 4.601 (95% CI, 1.205-17.573). Better pregnant outcomes of aPL positive women, include APS and NCAPS, were achieved in our study with treatment based on low-dose aspirin (LDA) plus low molecular weight heparin (LMWH). The incidence of IUGR was still higher in them, and aCL positivity was the only one risk factor associated with IUGR.

Association between maternal blood lipids levels during pregnancy and risk of small-for-gestational-age infants.

Dyslipidemia in pregnancy are associated with risk of adverse outcomes. As an adverse pregnancy outcome, small-for-gestational-age has been extensively studied in Western countries. However, similar studies have rarely been conducted in Asian countries. Data were derived from 5695 pairs of non-diabetic mothers and neonates between 1 Jan 2014 and 31 Dec 2014. 5.6% neonates in our study were SGA. Serum samples were collected during second and third trimesters for evaluation on fasting lipids levels. The present study intended to explore the associations between maternal lipid profile and small-for-gestational-age neonates. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated and adjusted via logistic regression analysis. After adjustments for confounders, third-trimester total cholesterol levels were associated with a decreased risk for small-for-gestational-age (aOR = 0.622, 95% CI 0.458-0.848, P = 0.002), and third-trimester high-density lipoprotein cholesterol and low-density lipoprotein cholesterol levels were associated with an increased risk for small-for-gestational-age (aOR = 1.955, 95% CI 1.465-2.578, P < 0.001; aOR = 1.403, 95% CI 1.014-1.944, P = 0.041).In the highest gestational weight gain strata, especially the third-trimester, the effect of high-density lipoprotein cholesterol levels on the risk for small-for-gestational-age is larger. High high-density lipoprotein cholesterol level during third trimester could be considered as indicators of a high-risk of small-for-gestational-age, regardless of gestational weight gain.

The predictive value of D-dimer test for venous thromboembolism during puerperium in women age 35 or older: a prospective cohort study.

BACKGROUND: This study aimed to investigate the predictive value of the D-dimer level for venous thromboembolism (VTE) events during puerperium of women age at 35 years or older, as well as to identify other risk factors associated with the occurrence of VTE. METHODS: It was a prospective observational cohort study, from January 2014 to December 2018, which involved 12,451 women age 35 or older who delivered at least 28 weeks of gestation at Women's Hospital of Zhejiang University, School of Medicine. The maternal and fetal demographic characteristics, pregnancy complications, imaging finding and results of laboratory test within postpartum 24 h including D-dimer level, platelet counts and fibrinogen level were collected for analyses. RESULTS: 30(2.4‰) women were identified as VTE, including 1 pulmonary embolism event and 29 deep venous thrombosis events. The receiver operating characteristic (ROC) curve analysis suggested the best cutoff point for D-dimer level within postpartum 24 h of women age 35 or older was 5.545 mg/L, with a specificity of 70.0% and a sensitivity of 75.4%. Besides, there was no statistical correlation between platelet counts and VTE, as well as between fibrinogen level and VTE. On multivariate analysis, D-dimer≥5.50 mg/L (OR = 5.874, 95%CI: 2.678-12.886) and emergency cesarean section (OR = 11.965, 95%CI: 2.732-52.401) were independently associated with VTE in puerperium of women age 35 or older. CONCLUSIONS: We concluded that D-dimer≥5.50 mg/L was an independent predictor of VTE in puerperium with maternal age 35 or older and D-dimer testing was a necessary examination for perinatal women.

Transverse parallel compression suture: a new suturing method for successful treating pernicious placenta previa during cesarean section.

PURPOSE: To report a novel method to achieve hemostasis and to evaluate efficacy and safety of controlling hemorrhage from the lower uterine segment (LUS) during cesarean section for placenta previa and accrete compared with conventional surgery. METHODS: From January 2017 to June 2019, there were 65 cases of pernicious placenta previa admitted in our obstetric department. They all had performed selective cesarean sections. Transverse parallel compression suture was applied in 32 cases during cesarean sections. The bladder was reflected downward till the lowest point of placenta implanted. Two plastic drains were inserted into internal and through the external os, as a support for compressing and draining the uterine cavity. First, at one side of LUS, a Vicryl number one stitch was inserted borderline of myometrium from the anterior to the posterior. The stitch was then inserted borderline of myometrium from the posterior to anterior at the other side in horizontal direction and tightened on the anterior wall of uterine surface. Another suture was inserted superiorly or inferiorly to the first one, at 1 cm interval. Then, such sutures were stitched until the bleeding and dilated LUS became all compressed. The uterine incision was then stitched [group 1 (Gr1)]. Other 33 cases were managed with conventional surgery [group 2 (Gr2)]. The efficiency of this novel technique, in term of blood loss, operation time, the intensive-care unit (ICU) admission rate and hospitalization time after surgery, complications, and postoperative recovery, was compared over the same period. RESULTS: With our transverse parallel compression suture, we were able to preserve the uterus in all cases, while two patients underwent hysterectomy in Gr2. Our success rate in hemostasis was 93.8% (30/32). The operation time, the length of ICU stay, and the rate of ICU admission of Gr1 were lower than Gr2. All patients resumed a normal menstrual flow, and no long-term complications were observed during follow-up. CONCLUSION: Transverse parallel compression suture is an easy, effective, and safe method to stop bleeding from the lower uterine segment in women with placenta previa and accrete.

Balloon tamponade for successful emergency cervical cerclage.

AIM: To illustrate the method of emergency cerclage with the balloon tamponade and demonstrate the efficacy of this surgery method. METHODS: Procedures of the balloon tamponade assisted emergency cerclage were reviewed in detail and outcomes of 39 patients treated with this way were evaluated. RESULTS: From 2017 to 2019, emergency cerclage was successfully performed in 39 patients with a dilated cervix and bulging fetal membranes, assisted by the balloon tamponade. The diameter of the bulging prolapsed membranes ranged from 0.0-10.0 cm, with a median of 2.0 cm. Prolongation of the pregnancy period was from 8 to 138 days, with a median of 29 days. No maternal complications including infections, cervical laceration and cervical bleeding were observed perioperative period. CONCLUSION: Emergency cerclage is an effective way to prolong gestational period in patients with advanced cervical dilatation and bulging membranes. The balloon tamponade assisted emergency cerclage makes the replacement of fetal membranes back into the uterine cavity easier and effectively, then a successful and convenient emergency cerclage can be performed.

Whole-Exome Sequencing Revealed Mutations of MED12 and EFNB1 in Fetal Agenesis of the Corpus Callosum.

Agenesis of the corpus callosum (ACC) is a birth defect in which the corpus callosum is either partially or completely missing. With recent advances in prenatal ultrasound, detection of ACC in obstetric practices is becoming more common. Etiologies of ACC include chromosome errors, genetic factors, prenatal infections, and other factors related to the prenatal environment. In an effort to elucidate more about the genetic influence in the pathogenesis of ACC, we identified, through whole-exome sequencing (WES), two gene mutations in two families with complete agenesis of the corpus callosum. These two mutations are located on chromosome X: one is a hemizygous missense mutation c.3746T>C (p. L1249P) in the gene mediator complex subunit 12 (MED12); the other one is a heterozygous missense mutation c.128+5G>C in gene ephrin B1 (EFNB1). Historically, early diagnosis of complete ACC during pregnancy has been difficult; however, WES has provided us with a creative avenue of diagnosis, combining identification of genetic mutations with prenatal imaging.

Placental Delta-Like 1 Gene DNA Methylation Levels Are Related to Mothers' Blood Glucose Concentration.

PURPOSE: We aim to identify the methylation status of delta-like 1 (DLK1) in the placenta and the correlation between DLK1 methylation and maternal serum glucose level and fetal birth weight. METHODS: We analyzed the gene expression of DLK1 gene in both maternal and fetal sides of the placenta in a GDM group (n = 15) and a control group (n = 15) using real-time polymerase chain reaction. With MethylTargetTM technique, we detected the methylation status of DLK1 promotor in the placenta. Furthermore, Pearson's correlation was used to confirm the association of methylation alteration of DLK1 promoter and maternal 2 h OGTT glucose level and fetal birth weight. RESULTS: In our study, we found that DLK1 expression in both maternal and fetal sides of the placenta decreased significantly in GDM group compared with control group, and it was caused by hypermethylation of DLK1 promoter region. Additionally, the methylation status of DLK1 gene in the maternal side of the placenta highly correlated with maternal 2 h OGTT glucose level (coefficient = 0.7968, P < 0.0001), while the methylation status in the fetal side of the placenta was closely related to fetal birth weight (coefficient = 0.6233, P < 0.0001). CONCLUSIONS: Our results demonstrated that altered expression of DLK1 was caused by the hypermethylation of DLK1 promoter region in the placenta, and intrauterine exposure to GDM has long-lasting effects on the epigenome of the offspring.

[Prognosis of fetuses with cystichygroma and nuchal translucency/nuchal fold thickening on prenatal echography].

OBJECTIVE: To analyze the prognosis of fetuses with cystic hygroma (CH) or nuchal translucency (NT) or nuchal fold (NF) thickening detected by prenatal echography. METHODS: From January 2014 to December 2015, 124 fetuses with CH and NT/NF thickening on prenatal echography were enrolled from Women's Hospital of Zhejiang University School of Medicine. The basic clinical information, ultrasonic results, pregnancy outcomes and newborn follow-ups were analyzed. The cases were grouped by prognosis and the factors affecting prognosis were analyzed with logistic regression. RESULTS: There were 85 cases of labor induction including one stillbirth and 39 cases delivered. Except one infant who died after birth, all live births survived with good prognosis. Univariate analysis showed that the gestational age at diagnosis of poor prognosis group was earlier than that of good prognosis group (P<0.01); and the former group also had higher hydrops fetalis rate and additional structural anomalies rate (all P<0.01). Multivariate regression analysis showed that hydrops fetalis (OR=90.105, P<0.05) and additional structural anomalies (OR=61.854, P<0.05) were risk factors of poor prognosis in fetuses with CH and NT/NF thickening. CONCLUSIONS: Fetuses with diagnosed CH or NT/NF thickening on prenatal ultrasonography are likely to be associated with chromosomal abnormality. Early gestational weeks, hydrops fetalis and additional structural anomalies may indicate poor prognosis.