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Congenital hydrocephalus is frequently caused by mutations in the L1 cell adhesion molecule (L1CAM) gene. The purpose of the present study was to identify possible causes of fetal hydrocephalus in a Chinese family. The samples from the parents and the hydrocephalic fetus were collected. Whole-exome sequencing and in-depth mutation analysis were performed. The identified variant, c.1267C>T.(p.Q423X), is situated on exon 11 of L1CAM gene (chromosome X:153134975). The fetus was confirmed to be hemizygous for the nonsense mutation and the mother was a heterozygous carrier. The mutation turns a glutamine into a premature stop codon at amino acid position 423. In conclusion, in the present study, a nonsense mutation in the L1CAM gene was identified during the prenatal diagnosis of a congenital hydrocephalic fetus from a Chinese family. The diagnosis highlighted the necessity of genetic screening for prenatal diagnosis.

Background: This study was aim to figure out the level of awareness about providing genetic tests and the attitude towards termination of pregnancy (TOP) regarding fetal congenital heart defects (CHD) among clinicians in China.Methods: A total of 501 clinicians were divided into 2 groups: clinicians whose working hospital were available of prenatal genetic service were assigned into group 1, whose working hospital were not available of prenatal genetic service were assigned to group 2. The level of awareness and the attitude were evaluated according to scores of a questionnaire. Results: Among the 501 total clinicians, only 27.94% received a high score and 53.09% received a medium score, indicating a low level of awareness about prenatal genetic tests among clinicians. 31.62% clinicians in group 1, but only 24.19% in group 2 showed good awareness of providing genetic tests (P=0.023). About 44.3% of clinicians in group 1, but only by 29.4% of those in group 2 held optimistic attitudes towards minor CHDs and were less favor of TOP in minor CHDs (P=0.023). Conclusion: Prenatal genetic tests and counseling in hospital are necessary and should be improved in the management of fetal CHD in China.

Humans are exposed to polybrominated diphenyl ethers (PBDEs) via ingestion of food, dust inhalation, and dermal absorption. Exposure to PBDEs via the placenta and breast milk is a special and important pathway in infants. This nested case-control study aimed to investigate the levels of PBDEs in maternal serum and colostrum, and to assess the association between the occurrence of fetal growth restriction (FGR) and prenatal exposure to PBDEs. We recruited 293 mother-newborn pairs, including 98 FGR cases and 195 healthy controls in Wenzhou, China. Maternal serum and colostrum samples were collected during pregnancy and after delivery, respectively, and the levels of PBDEs were measured by gas chromatography-tandem mass spectrometry. The total levels of PBDEs in maternal serum and colostrum were found to be in equilibrium, but congener profiles of PBDEs in these matrices were different. Increased BDE-207, BDE-209, ∑BDE196-209 and ∑PBDEs levels in maternal serum and BDE-99, ∑BDE17-154 and ∑PBDEs levels in colostrum were correlated with decreased birth weight Z score. Increased concentrations of higher brominated BDEs in maternal serum (odds ratio (OR) = 1.010, 95%CI = 1.003–1.018) and low-to moderately brominated BDEs in colostrum (OR = 1.004, 95%CI = 1.000–1.009) were associated with increased risk of FGR, which showed an exposure–response relationship. In addition, infants with FGR were more exposed to PBDEs in colostrum after birth than healthy infants. Longitudinal birth cohort studies are needed to determine the prolonged effect of PBDEs exposure on the growth of FGR infants in the future.

Aquaporin 1 (AQP1) is a glycoprotein responsible for water passive transport quickly across biological membrane. Here, we reviewed the structural and functional impacts of AQP1 knockout (AQP1-KO) in animal or cell culture models. AQP1 gene deletion can cause a large number of abnormalities including the disturbance in epithelial fluid secretion, polyhydramnios, deficiency of urinary concentrating function, and impairment of pain perception. AQP1-KO mice also displayed aberrations of cardiovascular, gastrointestinal and hepatobiliary, and kidney functions as well as placenta and embryo development. Moreover, AQP1-KO perturbed tumor angiogenesis and led to reduced brain injury upon trauma. On the cellular level, AQP1-KO caused neuroinflammation, aberrant cell proliferation and migration, and macrophages infiltration. Mechanistic studies confirmed that AQP1 gene products regulate the secretory function and participated in balancing the osmotic water flux across the peritoneal membrane. The available data indicated that AQP1 might serve as a potential target for developing novel therapeutic approaches against diverse human diseases.

BACKGROUND The aim of this study was to identify factors predicting histologic chorioamnionitis (HCA) in women with preterm premature rupture of membranes (PPROM). MATERIAL AND METHODS We retrospectively enrolled 371 women diagnosed with PPROM at less than 34 weeks of gestation at the Second Affiliated Hospital of Wenzhou Medical University between January 2008 and December 2012. HCA was diagnosed by placental histopathology in 70% of participants. Binary logistic regression was used to identify factors associated with HCA and neonatal outcomes. RESULTS Patient age, rate of parity, tocolysis, cesarean section, serum C reactive protein (CRP) level at admission, white blood cell count, and latency duration did not significantly differ between the 2 groups. Binary logistic regression revealed that oligohydramnios at admission, gestational age at PPROM, and serum CRP >8 mg/L before delivery were significantly associated with HCA. Gestational age at delivery and birth weight were significantly lower in HCA patients than control patients. The rate of 1-min Apgar score

Purpose To examine Chinese neonatal infants with both cycloplegic and noncycloplegic retinoscopy and to compare the distribution of refractive errors for the two techniques. Methods Cycloplegic retinoscopy was performed by two experienced pediatric ophthalmologists on 81 neonatal infants randomly selected from a group of 185 neonates who had undergone noncycloplegic retinoscopy. All infants were between 1 day and 6 days of age and were born without incident at full term. Results The mean cycloplegic spherical equivalent (CSE) was highly hyperopic (+3.55 diopters [D] ± 2.39 D). The mean noncycloplegic spherical equivalent (nCSE) was +0.58 D ± 2.32 D. The high reliability of the refractive measurements was demonstrated by high correlations between examiners (CSE: OD, r = 0.96; OS, r = 0.97; nCSE: OD, r = 0.94; OS, r = 0.93 OS) and between eyes (CSE: examiner 1, r = 0.94; examiner 2, r = 0.95; nCSE: examiner 1, r = 0.95; examiner 2, r = 0.97). The correlation between CSE and nCSE was much lower (examiner 1: OD, r = 0.76; OS, r = 0.73; examiner 2: OD, r = 0.72; OS, r = 0.70). Prevalence of astigmatism was very low (1.6% ≥ 1.0 D). Conclusions The level of hyperopia was very high in these infants, and the offsetting tonic accommodation demonstrated by the difference between CSE and nCSE was much higher than in any previous report. Low amounts of infantile hyperopia and high astigmatism are associated with future myopia in the West. The Chinese neonates in this study had high amounts of hyperopia and little astigmatism, yet they are at high risk to become myopic.