Supplementary Material for: Prenatal Diagnosis of DNA Copy Number Variations by Genomic Single-Nucleotide Polymorphism Array in Fetuses with Congenital Heart Defects

<b><i>Objectives:</i></b> To evaluate the usefulness of single-nucleotide polymorphism (SNP) array for prenatal genetic diagnosis of congenital heart defect (CHD), we used this approach to detect clinically significant copy number variants (CNVs) in fetuses with CHDs. <b><i>Methods:</i></b> A HumanCytoSNP-12 array was used to detect genomic samples obtained from 39 fetuses that exhibited cardiovascular abnormalities on ultrasound and had a normal karyotype. The relationship between CNVs and CHDs was identified by using genotype-phenotype comparisons and searching of chromosomal databases. All clinically significant CNVs were confirmed by real-time PCR. <b><i>Results:</i></b> CNVs were detected in 38/39 (97.4%) fetuses: variants of unknown significance were detected in 2/39 (5.1%), and clinically significant CNVs were identified in 7/39 (17.9%). In 3 of the 7 fetuses with clinically significant CNVs, 3 rare and previously undescribed CNVs were detected, and these CNVs encompassed the CHD candidate genes <i>FLNA</i> (Xq28 dup), <i>BCOR</i> (Xp11.4 dup), and <i>RBL2</i> (16q12.2 del). <b><i>Conclusion:</i></b> Compared with conventional cytogenetic genomics, SNP array analysis provides significantly improved detection of submicroscopic genomic aberrations in pregnancies with CHDs. Based on these results, we propose that genomic SNP array is an effective method which could be used in the prenatal diagnostic test to assist genetic counseling for pregnancies with CHDs

Supplementary Material for: Sex Differences in the Prevalence of and Risk Factors for Nonvascular Cognitive Function in Rural, Low-Income Elderly in Tianjin, China

<b><i>Background:</i></b> At the global level, dementia is the leading cause of dependence and disability among the elderly. Although the preponderant prevalence in women has been identified, the sex differences in risk factors were unclear. We aimed to evaluate the sex differences in the prevalence of nonvascular cognitive impairment and the risk factors among the elderly in rural China screened with the Mini-Mental State Examination (MMSE). <b><i>Methods:</i></b> Between 2014 and 2015, a population-based cross-section study was conducted to collect basic information among the elderly aged 60 years and over. Those participants with the previous history of stroke or heart disease were excluded in this study. Nonvascular cognitive impairment was assessed using the MMSE scores. <b><i>Results:</i></b> The prevalence of cognitive impairment was 32.4% overall, 25.6% in men and 38.1% in women. In the multivariate analysis, older age and lower education were risk factors both in men and in women; older, large waist circumference was a protective factor for cognitive function in men; higher blood pressure was the risk factor in women. <b><i>Conclusion:</i></b> These findings suggest that it is crucial to manage and control hypertension and improve educational attainment in order to reduce the prevalence and burden of nonvascular cognitive impairment among low-income residents, both men and women, in rural China