Search

Aim: This retrospective study aimed to investigate the value of exome sequencing (ES) in fetuses with isolated first‐trimester increased nuchal translucency (NT) and normal chromosomes. Methods: ES was performed on 103 fetuses with isolated first trimester increased NT and normal chromosomes. The detection rate of monogenic conditions was analyzed. Results: Diagnostic variants were detected in nine cases in which phenotypes and genotypes correlated well, two positive cases were Thanatophoric dysplasia type I, and one case was Kabuki syndrome, which had been detected in previous studies. Eight of the nine cases with diagnostic variants developed additional structural malformations later in pregnancy. Among the nine positive cases, six had a NT thickness between 95th percentile (95th–3.4 mm), and three cases with an increased NT of 3.5 mm or greater. Also, there was no statistical difference in the diagnosis of diagnostic variants in cases with or without a thickened nuchal fold (NF). Conclusions: The diagnostic yield of prenatal ES is low for fetuses with an isolated increased NT. In addition to Noonan syndrome, there are additional genetic syndromes such as Kabuki syndrome and Thanatophoric dysplasia type I that are potentially associated with an increased NT. A cut‐off of greater than the 95th percentile may be useful in case selection for ES. Whether it is clinically meaningful to monitor NF values for fetuses with isolated increased NT and normal chromosomes worth considering. [ABSTRACT FROM AUTHOR]

Background: Preterm complications and neonatal asphyxia are the leading causes of death in those under 5 years of age. However, little information exists for the province of Henan, China. The purpose of this study was to explore changes in the live birth profile in a provincial hospital over the past 32 years in Henan, China. Methods: A retrospective analysis was conducted to reveal the characteristics of live neonates from 1987 to 2018. Results: There were 118 253 live births during the period, including 19 798 (16.74%) preterm births. The neonatal death rate was 6.45‰, and the top risk factor was preterm birth complications and birth asphyxia. Before 1998, neonatal death occurred primarily among term infants. Between 1999 and 2018, preterm infants, especially extreme and very preterm infants with very low birthweight, constituted more than half of all mortalities, and the preterm birth rate increased from 5.94% in 1999 to 16.69% in 2018. The risk factors associated with preterm birth were being male (aOR = 1.18, P < 0.001), advanced maternal age (>35 years old; aOR = 1.08, P = 0.008), gravidity ≥2 (aOR = 1.15, P < 0.001), parity ≥2 (aOR = 1.50, P < 0.001), placenta previa (aOR = 7.41, P < 0.001), twin or multiple births (aOR = 10.63, P < 0.001), hypertension (aOR = 2.08, P < 0.001), and rupture of membrane (aOR = 5.03, P < 0.001). Conclusions: The preterm birth rate has increased over the past 32 years from 4.98% to 16.69% in a provincial hospital in China. Preterm birth was the leading reason for neonatal death, and birth asphyxia was the major risk factor for death in term infants. [ABSTRACT FROM AUTHOR]

Introduction: To investigate the expression of miR‐146a in severe preeclampsia (PE) and its effect on trophoblast cell proliferation, invasion and apoptosis, as well as its relationship with SMAD4. Material and Methods: Participants were divided into the severe PE group (n = 30) and the normal group (n = 30). The expression of miR‐146a and SMAD4 in placenta tissue was detected by immunohistochemistry, qRT‐PCR, and western blot. Trophoblast cell lines HTR‐8/SVneo were cultured to detect the expression of miR‐146a under the Cobalt chloride (CoCl2)‐simulated hypoxia. The effects of miR‐146a transfection on cell proliferation, invasion, apoptosis, and SMAD4 expression were analyzed. Results: Compared with the normal group, miR‐146a expression was decreased and the protein and mRNA levels of SMAD4 were increased in placenta tissues of the severe PE group. Our in vitro experiments showed that the expression of miR‐146a decreased after CoCl2 treatment. Silencing miR‐146a caused increased expression of SMAD4 and decreased expression of VEGF. After transfection with miR‐146a inhibitor, compared with the NC group, the invasion and proliferation of HTR‐8/Svneo cells were decreased, while the apoptosis was enhanced. Conclusion: The expression of miR‐146a decreased in severe PE and was negatively correlated with SMAD4 expression. The expression of miR‐146a was inhibited under hypoxia, and the low expression of miR‐146a affected the proliferation, invasion, and apoptosis of trophoblast cells. [ABSTRACT FROM AUTHOR]

Objectives: This retrospective study aimed to investigate the correlations between phenotypes of fetal renal abnormalities on prenatal ultrasound and genetic aetiologies detected using chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES). Methods: Fetuses with renal abnormalities were subjected to CMA and were further analysed by WES when CMA‐negative. The detection rates for chromosomal abnormalities and monogenic variants among different types of isolated renal abnormalities and those with extrarenal abnormalities (non‐isolated cases) were determined and compared. Results: CMA detected chromosomal abnormalities in 78 of 577 fetuses (13.52%). WES detected monogenic variants in 31 of 160 fetuses (19.38%) that had non‐diagnostic CMA results. In cases of isolated hyperechogenic kidney, polycystic kidney disease, and multicystic dysplastic kidney, the detection rates of copy number variants (CNVs) by CMA and monogenic variants by WES were not significantly different (p > 0.05). However, monogenic variants were more frequently detected than CNVs when kidney abnormalities were accompanied by reduced amniotic fluid (p < 0.05). Other renal abnormalities identified on prenatal ultrasound had different detection rates. Conclusions: Our findings contribute to the overall knowledge of genetic variants associated with prenatally identified renal anomalies and may aid in decision making regarding prenatal genetic testing options for affected pregnancies. Key points: What's already known about this topic? Fetal renal abnormalities are some of the common and most easily detectable anomalies on ultrasound. The disease has a wide range of prenatal phenotypes with distinct prognoses and etiologies. Studies have shown that fetal renal abnormalities may be related to certain genetic disorders or syndromes. However, one of the major challenges to the use of genetic information in the clinical setting remains the lack of strict genotype‐phenotype correlation. What does this study add? This study first explored the correlations between phenotypes of fetal renal abnormalities detected on prenatal ultrasound and genetic aetiologies detected by CMA and WES. Our results suggest that hyperechogenic kidney should be confirmed with genetic testing. Renal abnormalities presenting together with reduced AF are likely to be related to monogenic variants. Genetic abnormalities in cases with obstructive renal dysplasia and duplex kidney were rarely observed. [ABSTRACT FROM AUTHOR]

Preeclampsia (PE) is a common pregnancy-related syndrome characterized by chronic immune activation. This study is aimed at exploring the role of miR-155 in the inflammatory pathogenesis of PE. Placental tissues and peripheral blood were collected from all subjects. BSP detection analysis was performed to evaluate miR-155 methylation levels. ELISA was performed to measure the levels of inflammatory cytokines and MMP2 in serum samples and cellular supernatants. HTR-8/SVneo and JEG-3 cells were transfected with miR-155 mimic and the inhibitor to establish the overexpressed miR-155 and silenced miR-155 cell models, respectively. Treatment with 5-Aza was performed to alter the DNA methylation level of miR-155. The PE rat model was established after subcutaneous injection of NG-nitro-L-arginine methyl ester. The CCK-8 assay, TUNEL staining, and Transwell assay were performed. Reverse transcription-quantitative PCR, Western blot analysis, and immunohistochemical assay were used to analyze related gene expression levels. The luciferase reporter assay was used to investigate the direct interaction between FOXO3 and miR-155. Results showed that miR-155 was remarkably upregulated and inversely correlated with the promoter methylation level in the placental tissue from PE patients. The in vitro experiments indicated that miR-155 decreased viability, migration, and invasion, but increased apoptosis in trophoblast cells. FOXO3 was confirmed as the target of miR-155. Transfection of the miR-155 inhibitor suppressed inflammation and oxidative stress, but elevated proliferation, migration, and invasion of trophoblast cells, which were abolished by 5-Aza treatment or cotransfection with si-FOXO3. In summary, our data suggested that methylation-mediated silencing of miR-155 can inhibit the apoptosis, inflammation, and oxidative stress of trophoblast cells by upregulating FOXO3. [ABSTRACT FROM AUTHOR]

Hypertensive disorder in pregnancy is a disease that occurs during pregnancy. We aimed to analyze the morbidity and maternal and infant outcomes with respect to the hypertensive disorder in pregnancy in China in 2018. Clinical data of 38 590 cases from 161 hospitals were retrospectively collected. The differences in morbidity and maternal and infant mortality among the major regions and provinces were compared. The overall national average morbidity was 4.74%, and the ratios of gestational hypertension, preeclampsia, eclampsia, chronic hypertension, and chronic hypertension with superimposed preeclampsia were 29.17%, 55.02%, 0.66%, 6.53%, and 8.62%, respectively. The overall maternal mortality was 0.61/100 000, and the case fatality was 0.13%. Morbidity associated with hypertensive disorder in pregnancy was 7.74% in North China, 6.62% in Northwest China, 6.40% in Central China, 5.83% in Northeast China, 4.28% in East China, 3.85% in South China, and 2.88% in Southwest China. The morbidity in each province was 1.62-11.28%. The overall perinatal mortality was 3.59% (81.09% for stillbirths; 18.91% for neonatal deaths). Perinatal mortality decreased with increasing gestational weeks from 24 to 37 + 6 weeks. Perinatal mortality for delivery at 32 weeks of gestation in all regions of the country was <10%. Morbidity varied across regions in China, with the lowest in Southwest and the highest in North China. The low maternal mortality is related to the large-scale development of standardized maternal health care in China. For severe hypertensive disorder patients, gestation should be prolonged to 32 weeks as often as possible for better neonatal survival rates. [ABSTRACT FROM AUTHOR]

Objective: To investigate the expression of microRNA‐126 (miR‐126) and vascular endothelial cell adhesion molecule‐1 (VCAM‐1) in the placental tissues of women with early‐onset preeclampsia (EOPE) and their effects on trophoblast invasion. Materials and Methods: The placental tissues of 30 pregnant women with EOPE who delivered in the Third Affiliated Hospital of Zhengzhou University from November 2019 to May 2020 were selected as the preeclampsia (PE) group, and the placental tissues of 30 healthy pregnant women with normal prenatal examination were selected as the normal group. Immunohistochemistry was used to localize VCAM‐1 in placental tissues，the expression of miR‐126 and VCAM‐1 in placenta tissues of two groups and HTR‐8/SVneo cells transfected with miR‐126 were detected by real‐time polymerase chain reaction (RT‐PCR) and Western blot, and the correlation between them was analyzed. The invasion ability of cells transfected with miR‐126 was observed by Transwell invasion test. Results: Compared with the normal group, the expression of miR‐126 was higher and VCAM‐1 was lower in the placental tissues of the PE group, and the difference were statistically significant (p < 0.01). Moreover, VCAM‐1 was negatively correlated with the expression of miR‐126 (r = −0.391, p < 0.05). In vitro experiment, the expression level of VCAM‐1 in miR‐126 mimics transfection group was decreased, and the expression level of VCAM‐1 in miR‐126 inhibitor transfection group was increased; the invasion ability of HTR‐8/SVneo cells transfected with miR‐126 mimics was decreased, and the invasion ability of HTR‐8/SVneo cells transfected with miR‐126 inhibitor was enhanced. Conclusion: There was a negative correlation between the expression of miR‐126 and VCAM‐1 in EOPE.MiR‐126 and VCAM‐1 may participate in the occurrence and development of EOPE by affecting the invasion ability of trophoblast cells. [ABSTRACT FROM AUTHOR]

The prevalence of GDM is very high worldwide. The specific pathogenesis of GDM is currently not very clear. Recent research suggests that changes in the intestinal flora during pregnancy play a key role in it. Therefore, this study is aimed at exploring the characteristics of the intestinal flora of patients with gestational diabetes in the third trimester of pregnancy and at finding the intestinal flora with significant differences in healthy pregnant women to provide a basis for future clinical attempts of using intestinal microecological agents to treat gestational diabetes mellitus (GDM). We sequenced the V3-V4 regions of the 16S ribosomal ribonucleic acid (rRNA) gene from stool samples of 52 singleton pregnant women at >28 weeks of gestation. Our results showed that there were significant differences between the NOR group vs. GDM group and the G group vs. LG group among Bacteroides, Firmicutes, and Firmicutes/Bacteroides. At the species level, there were significant differences in the abundance of eight species in the NOR and GDM groups. Among them, the relative abundance of Clostridium_spiroforme, Eubacterium_dolichum, and Ruminococcus_gnavus was positively correlated with FBG, and Pyramidobacter_piscolens was negatively correlated with FBG, whereas there were significant differences in the abundance of five species in the G and LG groups. Functional analysis showed that there were differences in the biosynthesis and metabolism of polysaccharides, digestive system, classification, and degradation of the intestinal microbes between the NOR and GDM groups and between the G and LG groups. These results indicated that the gut microbes between GDM patients in the third trimester of pregnancy and healthy controls had essential characteristic changes and might be involved in the regulation of patients' blood glucose levels. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the effectiveness of prophylactic abdominal aorta balloon occlusion in cases of placenta previa with abnormal placentation.Methods: In a retrospective study, data were analyzed for patients who had placenta previa with placenta accreta and underwent elective cesarean delivery (>34 weeks) with or without temporary aortic balloon occlusion at a center in Zhengzhou, China, between October 2015 and September 2016. The primary clinical outcomes were operative time, estimated blood loss, intraoperative blood transfusion volume, hemoglobin, hysterectomy, and hospitalization.Results: Among 69 eligible women, 38 had temporary balloon occlusion, and 31 had no balloon occlusion. Operative time, blood transfusion volume, change in hemoglobin, hysterectomy, and length of hospitalization did not differ. Although mean blood loss did not differ, fewer patients in the balloon group than the non-balloon group had an estimated blood loss of more than 1000 mL (24 [63%] vs 28 [90%]; P=0.009). In terms of different placental types, the estimated blood loss among women with placenta accreta and placenta increta was lower in the balloon group than in the non-balloon group (P<0.001 and P=0.01, respectively).Conclusion: Prophylactic balloon occlusion of the abdominal aorta reduced bleeding after cesarean delivery for women with abnormal placentation. [ABSTRACT FROM AUTHOR]

Objective. To evaluate changing trends in neonatal births and deaths in a provincial women's and children's hospital over the past 20 years. Design: Retrospective longitudinal study. Setting. Henan Provincial Women's and Children's Hospital, China. Population. Live births in Henan Provincial Women's and Children's Hospital from January 1987 to December 2006. Methods: Data was stratified by sex, birth weight, delivery type, maternal age, gestational age, and single or multiple births. The incidence of low Apgar scores and neonatal death was calculated for each fiscal year. Main outcome measures: Trends in the fundamental status of hospital-born live births and risk factors for neonatal death. Results. 26 760 hospital live births were included. The ratio of males to females was 1.16:1. The mean gestational age decreased from 39.5±1.4 weeks to 38.4±2.5 weeks ( p <0.001) and multiple births increased from 1.5 to 7.3% ( p<0.001). The proportion of preterm births increased from 4.7 to 18.9% ( p<0.001), maternal age increased from 25.9±3.7 years to 29.0±4.4 years ( p<0.001), and cesarean deliveries increased from 23.7 to 65.5% ( p<0.001). The incidence of low Apgar scores decreased from 12.9 to 1.1% ( p<0.001). The incidence of neonatal death was 8.5/1 000 live births, with preterm births and low Apgar scores accounting for 72.8 and 16.2% of all neonatal deaths, respectively. Conclusion. Preterm births, multiple births, and cesarean deliveries increased dramatically. Preterm birth is the leading cause of neonatal death. [ABSTRACT FROM AUTHOR]

Background: Preterm complications and neonatal asphyxia are the leading causes of death in those under 5 years of age. However, little information exists for the province of Henan, China. The purpose of this study was to explore changes in the live birth profile in a provincial hospital over the past 32 years in Henan, China., Methods: A retrospective analysis was conducted to reveal the characteristics of live neonates from 1987 to 2018., Results: There were 118 253 live births during the period, including 19 798 (16.74%) preterm births. The neonatal death rate was 6.45‰, and the top risk factor was preterm birth complications and birth asphyxia. Before 1998, neonatal death occurred primarily among term infants. Between 1999 and 2018, preterm infants, especially extreme and very preterm infants with very low birthweight, constituted more than half of all mortalities, and the preterm birth rate increased from 5.94% in 1999 to 16.69% in 2018. The risk factors associated with preterm birth were being male (aOR = 1.18, P < 0.001), advanced maternal age (>35 years old; aOR = 1.08, P = 0.008), gravidity ≥2 (aOR = 1.15, P < 0.001), parity ≥2 (aOR = 1.50, P < 0.001), placenta previa (aOR = 7.41, P < 0.001), twin or multiple births (aOR = 10.63, P < 0.001), hypertension (aOR = 2.08, P < 0.001), and rupture of membrane (aOR = 5.03, P < 0.001)., Conclusions: The preterm birth rate has increased over the past 32 years from 4.98% to 16.69% in a provincial hospital in China. Preterm birth was the leading reason for neonatal death, and birth asphyxia was the major risk factor for death in term infants., (© 2022 The Authors. Birth published by Wiley Periodicals LLC.)