Objectives To assess the clinical utility of prenatal chromosomal microarray analysis (CMA) in fetuses with abnormal renal sonographic findings, and to evaluate the association of pathogenic or likely pathogenic copy number variants (P/LP CNVs) with different types of renal abnormality. Methods This was a retrospective study of fetuses at 14–36 weeks screened routinely for renal and other structural abnormalities at the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. We retrieved and analyzed data from fetuses with abnormal renal sonographic findings, examined between January 2013 and November 2019, which underwent CMA analysis using tissue obtained from chorionic villus sampling (CVS), amniocentesis or cordocentesis. We evaluated the CMA findings according to type of renal ultrasound anomaly and according to whether renal anomalies were isolated or non‐isolated. Results Ten types of renal anomaly were reported on prenatal ultrasound screening, at a mean ± SD gestational age of 24.9 ± 4.8 weeks. The anomalies were diagnosed relatively late in this series, as 64% of cases with an isolated renal anomaly underwent cordocentesis rather than CVS. Fetal pyelectasis was the most common renal ultrasound finding, affecting around one‐third (34.32%, 301/877) of fetuses with a renal anomaly, but only 3.65% (n = 11) of these harbored a P/LP CNV (comprising: isolated cases, 2.37% (4/169); non‐isolated cases, 5.30% (7/132)). Hyperechogenic kidney was found in 5.47% (n = 48) of fetuses with a renal anomaly, of which 39.58% (n = 19) had a P/LP CNV finding (comprising: isolated cases, 44.44% (16/36); non‐isolated cases, 25.00% (3/12)), the highest diagnostic yield among the different types of renal anomaly. Renal agenesis, which accounted for 9.92% (n = 87) of all abnormal renal cases, had a CMA diagnostic yield of 12.64% (n = 11) (comprising: isolated cases, 11.54% (9/78); non‐isolated cases, 22.22% (2/9); unilateral cases, 11.39% (9/79); bilateral cases, 25.00% (2/8)), while multicystic dysplastic kidney (n = 110), renal cyst (n = 34), renal dysplasia (n = 27), crossed fused renal ectopia (n = 31), hydronephrosis (n = 98), renal duplication (n = 42) and ectopic kidney (n = 99) had overall diagnostic rates of 11.82%, 11.76%, 7.41%, 6.45%, 6.12%, 4.76% and 3.03%, respectively. Compared with the combined group of CMA‐negative fetuses with any other type of renal anomaly, the rate of infant being alive and well at birth was significantly higher in CMA‐negative fetuses with isolated fetal pyelectasis or ectopic kidney, whereas the rate was significantly lower in fetuses with isolated renal agenesis, multicystic dysplastic kidney or severe hydronephrosis. The most common pathogenic CNV was 17q12 deletion, which accounted for 30.14% (22/73) of all positive CMA findings, with a rate of 2.51% (22/877) among fetuses with an abnormal renal finding. Fetuses with 17q12 deletion exhibited a wide range of renal phenotypes. Other P/LP CNVs in the recurrent region that were associated with prenatal renal ultraso...

Objective To examine whether maternal hair or cord blood selenium levels are associated with infant congenital heart defects (CHDs). Method A hospital‐based case‐control study was performed with samples collected from 2010 to 2014. Selenium levels in maternal hair and fetal cord serum were measured using Inductively Coupled Plasma‐Mass Spectrometry (ICP‐MS). Data from medical records of infants with CHDs were collected. Logistic regression analysis was employed to examine the independent association between maternal selenium exposure and fetal CHD. Results In total, 888 pregnant women were included in this study. Median (interquartile range) selenium levels in of maternal hair was similar in the control and CHD group. A significant association was detected between increased maternal hair selenium concentration and CHDs in offspring (adjusted odds ratio [aOR] 3.57, 95 %CI, 1.90‐6.70). The association was present in all CHD groups, including septal defects, conotruncal defects, left ventricular outflow tract obstruction, right ventricular outflow tract obstruction, and anomalous pulmonary venous return. Conclusion High maternal selenium level is significantly associated with the occurrence of fetal CHD.

No abstract

This study meta-analyzed the literature on possible association of polymorphisms -137 (rs187238) and -607 (rs1946518) in the interleukin-18 (IL-18) promoter with risk of hepatocellular carcinoma (HCC). The analysis included 8 case-control studies on the -137 polymorphism (1,318 cases, 2,254 controls) and 7 case-control studies on the -607 polymorphism (1,262 cases, 1,696 controls). None of the five genetic models suggested a significant association between the -137 polymorphism and HCC risk: allelic model, OR 0.99, 95% CI 0.74–1.34, P = 0.97; recessive model, OR 0.98, 95% CI 0.65–1.46, P = 0.91; dominant model, OR 1.35, 95% CI 0.73–2.52, P = 0.34; homozygous model, OR 0.99, 95% CI 0.65–1.49, P = 0.95; heterozygous model, OR 0.99, 95% CI 0.66–1.48, P = 0.94. Similar results were obtained in subgroup analyses of Asian patients, Chinese patients, or patients with hepatitis B virus (HBV)-related HCC. Similar results were also obtained for the -607 polymorphism across the entire study population as well as in the three subgroups. The available evidence suggests no significant association of the -137 or -607 polymorphisms with risk of HCC in general or specifically of HBV-related HCC. These conclusions should be verified in large, well-designed studies.

Background: Congenital heart defects (CHDs) are the most common birth defect around the world. Maternal prepregnancy obesity has been proposed as a risk factor of CHDs, but the relationship of CHD risk with over-and underweight is controversial, especially because body mass index (BMI) distribution differs between Asia and the West. The study aimed to examine the potential associations of maternal over-and underweight on risk of offspring CHDs. Methods: An ambispective observational study involving 1206 fetuses with CHDs and 1112 fetuses without defects at seven hospitals in China was conducted. Standardized questionnaires were used to collect information on maternal prepregnancy weight and height, social demographic characteristics, living and occupational environments, and lifestyle behaviors. Univariate, multivariate and multilevel logistic regression as well as unrestricted cubic spline analysis were used to examine potential associations of prepregnancy BMI and offspring CHDs. Results: Prepregnancy maternal underweight (BMI<18.5) or low average BMI (18.5 ≤ BMI<21.25) was associated with significantly higher risk of CHD in offspring than high average BMI (21.25 ≤ BMI<24.0): multilevel logistic regression indicated adjusted odds ratios of 1.53 (95%CI 1.13, 2.08) for underweight, 1.44 (95%CI 1.10, 1.89) for low average BMI and 1.29 (95%CI 0.84, 1.97) for overweight or obesity (BMI ≥ 24.0). Mothers with prepregnancy BMI < 21.25 were at greater risk of offspring with septal defects, while mothers with low average BMI were at greater risk of offspring with conotruncal defects and septal defects.