Background To evaluate the interaction of depression and anxiety with the development of recurrent pregnancy loss (RPL). Methods A nested case–control study involving 2558 participants was conducted with data from the prospective Miscarriage Woman Cohort study between 2017 and 2019 in the province of Gansu, China. The questionnaire data, self-rating anxiety scale and self-rating depression scale were collected after each participant’s first miscarriage. Information on RPL outcomes was obtained from the medical records within the subsequent 2 years. All patients diagosed RPL were recruited as cases whilst a randomly selected group of women with only one miscarriage in the past were recruited as controls. The logistic regression and the interaction effects between anxiety and depression and RPL were analysed. Results The prevalence of anxiety (n = 325, 28.7% vs. n = 278, 19.5%) and depression symptoms (n = 550, 48.6% vs. n = 589, 41.3%) for the 1132 RPL cases were higher than 1426 non-RPL controls (P < 0.001). After adjusting for possible confounding variables, the odds ratio (OR) value, reflecting the multiplicative interaction, was 1.91 (95% CI 1.50–2.44, P < 0.001) for cases with both anxiety and depression symptoms compared with the non-RPL group. The relative excess risk of interaction value, reflecting the additive interaction between anxiety and depression to RPL was 1.15 (95% CI 0.32–4.21). Moreover, the adjusted OR for RPL cases with mild anxiety and severe depression was 2.77 (95% CI 1.07–44.14, P < 0.001), for RPL cases with severe anxiety and mild depression was 4.23 (95% CI 1.01–22.21, P < 0.001), for RPL cases with severe anxiety and moderate depression was 4.34 (95% CI 1.03–21.28, P < 0.001) and for RPL cases with severe anxiety and severe depression was 5.95 (95% CI 1.09–45.09, P < 0.05). Conclusions Either depression or anxiety alone could increase the risk of subsequent RPL. Anxiety and depression had a synergistic effect after the first miscarriage which increased the development of subsequent RPL disease.

Objective To examine the effects of position management, manual rotation of the fetal position, and using a U-shaped birth stool in primiparous women with a fetus in a persistent occiput posterior position. Methods This was a prospective pilot study of women who delivered at Gansu Provincial Maternity and Child-care Hospital between January and June 2018. The women were divided into the position management ([PM] position management, manual rotation of fetal position, use of a U-shaped birth stool at different stages, and routine nursing) and control groups (position selected by women and routine nursing). Results There were 196 women in the PM group and 188 in the control group. There were no significant differences in maternal age, gestational weeks, newborn weight, and the neonatal asphyxia rate between the PM and control groups. The duration of labor was shorter in the PM group than in the control group. Pain and blood loss 2 hours after delivery and the episiotomy rate were significantly lower in the PM group than in the control group. Conclusion Applying position management, manual rotation of the fetal position, and using a U-shaped birth stool should be considered for women with a fetus in a persistent occiput posterior position.

Background Fetal growth velocity standards have yet to be established for the Chinese population. This study aimed to establish such standards suitable for the Chinese population. Methods We performed a multicenter, population–based longitudinal cohort study including 9075 low–risk singleton pregnant women. Data were collected from the clinical records of 24 hospitals in 18 provinces of China. Demographic characteristics, reproductive history, fetal ultrasound measurements, and perinatal outcome data were collected. The fetal ultrasound measurements included biparietal diameter (BPD), abdominal circumference (AC), head circumference (HC), and femur diaphysis length (FDL). We used linear mixed models with cubic splines to model the trajectory of four ultrasound parameters and estimate fetal weight. Fetal growth velocity was determined by calculating the first derivative of fetal size curves. We also used logistic regression to estimate the association between fetal growth velocities in the bottom 10th percentile and adverse perinatal outcomes. Results Fetal growth velocity was not consistent over time or among individuals. The estimated fetal weight (EFW) steadily increased beginning at 12 gestational weeks and peaked at 35 gestational weeks. The maximum velocity was 211.71 g/week, and there was a steady decrease in velocity from 35 to 40 gestational weeks. The four ultrasound measurements increased in the early second trimester; BPD and HC peaked at 13 gestational weeks, AC at 14 gestational weeks, and FDL at 15 gestational weeks. BPD and HC also increased from 19 to 24 and 19 to 21 gestational weeks, respectively. EFW velocity in the bottom 10th percentile indicated higher risks of neonatal complications (odds ratio [OR] = 2.23, 95% confidence interval [CI]: 1.79–2.78) and preterm birth < 37 weeks (OR = 3.68, 95% CI: 2.64–5.14). Sensitivity analyses showed that EFW velocity in the bottom 10th percentile was significantly associated with more adverse pregnancy outcomes for appropriate–for–gestational age neonates. Conclusions We established fetal growth velocity curves for the Chinese population based on real–world clinical data. Our findings demonstrated that Chinese fetal growth patterns are somewhat different from those of other populations. Fetal growth velocity could provide more information to understand the risk of adverse perinatal outcomes, especially for appropriate–for–gestational age neonates.

Background: To evaluate the depression–anxiety interaction with the development of recurrent pregnancy loss (RPL). Methods: A nested case–control study involving 2,558 participants was conducted with data from the prospective Miscarriage Woman Cohort study between 2017 and 2019 in the province of Gansu, China. The questionnaire data, the Self-Rating Anxiety Scale and the Self-Rating Depression Scale were collected after each participant’s first miscarriage. Information on RPL outcomes was obtained from the medical records within the subsequent two years. The logistic regression and the addition and multiplication interaction effects between anxiety and depression to RPL were analysed.Results: The prevalence of anxiety (28.7% vs. 19.5%) and depression symptoms (48.6% vs. 41.3%) for the 1,132 RPL cases were higher than 1,426 non-RPL controls (P< 0.001). After adjustment for possible confounding variables, compared with the non-RPL participants without depression and anxiety symptoms, the odds ratio (OR) value, reflecting the multiplicative interaction, was 2.788 (95%CI: 1.511–5.144, P < 0.001) for cases with both anxiety and depression symptoms. Moreover, among these, the OR for cases with mild anxiety and severe depression was 5.369 (95%CI: 1.074–26.832, P < 0.001), and the OR for cases with severe anxiety and mild depression was 5.339 (95%CI: 1.033–27.590, P < 0.001). The relative excess risk of interaction value (RERI), reflecting the additive interaction between anxiety and depression to RPL was also 1.148 (95%CI: 0.316–4.212).Conclusions: Either depression or anxiety alone could increase risk of subsequent RPL. There also was a synergistic effect of anxiety and depression after the first miscarriage that increased the development of subsequent RPL disease.

Background Beckwith–Wiedemann syndrome (BWS) is an inherited disorder affecting 1 in 10,500 to 13,700 newborns worldwide. The disease is caused in a vast majority of patients by a molecular defect in the imprinted chromosome 11p15.5. Hereditary spherocytosis (HS) is a form of hemolytic anemia associated with a variety of mutations leading to congenital red blood cell (RBC) membrane defects. The prevalence of HS varies by geographic regions around the world, ranging from 1.2 in 100,000 in Asia to 1 in 2000 in Northern Europe. Methods and Results Herein, we report for the first time a rare case diagnosed with co‐existing BWS and HS. Based on the classical presentations, including macroglossia, hepatosplenomegaly, and macrosomia, the patient was first suspected with BWS. MS‐MLPA confirmed the BWS diagnosis based on hypomethylation of maternal 11p15.5 (KCNQ1OT1), but no copy number variations in chromosome 11 was detected by CNV‐seq. Nevertheless, to scrutinize molecular causes of other symptoms of the patient, including anemia, hyperbilirubinemia, and jaundice, a whole exome sequencing (WES) was performed. We identified a novel and de novo mutation in ANK1 gene (c.520delC). This frameshift mutation of ANK1 gene results in a truncated protein without important functional domains and impaired membrane stability and structure of the resultant red blood cells (RBCs), leading to a definitive diagnosis of HS. Conclusion The present case demonstrated that multiple genetic and epigenetic aberrations might co‐exist in the complex genetic diseases. For such kind of complicated cases, the different types of molecular tests, such as WES and MS‐MLPA, should be utilized in combination to reveal independent causal molecular events. The identifications from this study added new insights into the understanding of molecular mechanisms underlying the co‐existing HS and BWS.

Background Mucopolysaccharidosis type II (MPS II) is an X-linked multisystem disorder caused by mutations in the gene encoding iduronate 2-sulfatase (IDS). The clinical manifestations of MPS II include skeletal deformities, airway obstruction, cardiomyopathy, and neurologic deterioration. MPS II has high genetic heterogeneity disorder, and ~ 658 variants of IDS have been reported. Methods We undertook a detailed pedigree analysis of four patients within the same family by targeted next-generation sequencing and Sanger sequencing. Results We identified a novel heterozygous frameshift variant, c.1224delC(p.Pro408ProfsTer31), of IDS in three patients. We defined c.1224delC as a pathogenic variant according to the 2015 guidelines set by the American College of Medical Genetics and Genomics. Conclusion We reported the second Chinese female MPS II patient. We helped to ensure that these two families had healthy babies. Our findings have enlarged the mutational spectrum of IDS, and these findings could be useful for genetic counseling and the prenatal diagnosis of MPS II.

Background: To evaluate the interaction of depression and anxiety with the development of recurrent pregnancy loss (RPL).Methods: A nested case–control study involving 2,558 participants was conducted with data from the prospective Miscarriage Woman Cohort study between 2017 and 2019 in the province of Gansu, China. The questionnaire data, self-rating anxiety scale and self-rating depression scale were collected after each participant’s first miscarriage. Information on RPL outcomes was obtained from the medical records within the subsequent two years. All patients diagosed RPL were recruited as cases whilst a randomly selected group of women with only one miscarriage in the past were recruited as controls. The logistic regression and the interaction effects between anxiety and depression and RPL were analysed.Results: The prevalence of anxiety (n=325, 28.7% vs. n=278, 19.5%) and depression symptoms (n=550, 48.6% vs. n=589, 41.3%) for the 1,132 RPL cases were higher than 1,426 non-RPL controls (P< 0.001). After adjusting for possible confounding variables, the odds ratio (OR) value, reflecting the multiplicative interaction, was 1.91 (95% CI: 1.50–2.44, P<0.001) for cases with both anxiety and depression symptoms compared with the non-RPL group. The relative excess risk of interaction value, reflecting the additive interaction between anxiety and depression to RPL was 1.15 (95% CI: 0.32–4.21). Moreover, the adjusted OR for RPL cases with mild anxiety and severe depression was 2.77 (95% CI:1.07-44.14, P<0.001) , for RPL cases with severe anxiety and mild depression was 4.23 (95% CI: 1.01–22.21, P<0.001), for RPL cases with severe anxiety and moderate depression was 4.34 (95% CI: 1.03–21.28, P<0.001) and for RPL cases with severe anxiety and severe depression was 5.95 (95% CI: 1.09–45.09, P<0.05).Conclusions: Either depression or anxiety alone could increase the risk of subsequent RPL. Anxiety and depression had a synergistic effect after the first miscarriage which increased the development of subsequent RPL disease.

Purpose Sleep quality is an important indicator of individual quality of life, which not only affects people's mental health but is also closely related to the occurrence of many diseases. Sleep disorders associated with diabetes in pregnancy (DIP) can greatly endanger the health of mothers and babies, and the relationship between their hazards and blood glucose levels is very close. This study explored the quality of sleep in patients with DIP while analyzing the clinical features and related factors of their sleep disorders. Methods From June 2020 to July 2021, a total of 693 patients diagnosed with diabetes in pregnancy (DIP) in Gansu Provincial Maternal and Child Health Hospital were used as the experiment group, including 626 patients with gestational diabetes mellitus (GDM) and 67 patients with pregestational diabetes mellitus (PGDM). At the same time, 709 non-DIP women were randomly selected as the control group. To obtain the general situation of the participants, the participants were surveyed using the Pittsburgh Sleep Quality Index (PSQI) and the STOP-Bang questionnaire. The differences in sleep quality and obstructive sleep apnea-hypopnea syndrome (OSAHS) were analyzed between the experiment group and the control group using rank and chi-square test, and the clinical features and related factors of sleep disorder were analyzed. Results Compared with the control group, the experiment group had a larger age, pre-pregnancy weight, body mass index (BMI), and large neck circumference (P < 0.05). The PSQI scores for sleep quality, sleep duration, sleep efficiency, sleep disorder, and daytime dysfunction were higher compared with the control group (P < 0.05). Specific analysis of the clinical features of sleep disorders found that the experimental group had higher scores compared with the control group in terms of difficulty falling asleep, ease of waking up at night or waking up early, poor breathing, cough or snoring effects, feeling hot, nightmares, pain and discomfort, and other events that affected sleep (P < 0.05). The analysis of the types of daytime dysfunction found that the experiment group scored higher in terms of frequently feeling sleepy and lack of energy to do things than the control group (P < 0.05). Analysis of STOP-BANG scores indicated that the proportion of patients with GDM or PGDM having fatigue, hypertension, BMI > 35 kg/m2, and neck circumference > 40 cm was higher than that of the control group (P < 0.05). Conclusions Patients with DIP had more sleep disorders and a higher risk of developing OSAHS than non-diabetic pregnant women. There may be some link between sleep quality and the onset of DIP. This study lays the foundation for further studies and provides new ideas for the prevention and treatment of DIP.