Xian-Wei Guan

[Analysis of pathogenic variant carriage for MYO7A, PCDH15, and CDH23 genes among newborns based on high-throughput sequencing technique].

Yanan Li, Yun Sun, Xin Wang, Xian-Wei Guan et autres

OBJECTIVE: To analyze the carrier rates and profiles of pathogenic and likely pathogenic variants for hearing loss-related genes MYO7A, PCDH15, and CDH23 among neonates in Nanjing city through targeted next-generation sequencing (NGS). METHODS: Heel-prick blood samples were collected from 30 043 newborns …

cn (code pays fourni par la source)

Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China

Xin Wang, Yun Sun, Xian-Wei Guan, Yanyun Wang et autres

BACKGROUND: Lysosomal storage disorders (LSDs) have a relatively high incidence among rare diseases and can lead to severe consequences if not treated promptly. However, many countries and regions have not included these disorders in their newborn screening programs, resulting in missed early …

cn (code pays fourni par la source)

Effect of Newborn Genomic Screening for Lysosomal Storage Disorders: A Randomized Clinical Trial in China

Xin Wang, Yun Sun, Xian-Wei Guan, Yanyun Wang et autres

us, cn (code pays fourni par la source)

Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China

Yun Sun, Xian-Wei Guan, Yanyun Wang, Dongyang Hong et autres

cn (code pays fourni par la source)

Utility, benefits, and risks of newborn genetic screening carrier reports for families

Xin Wang, Yun Sun, Jingyu Zhao, Xian-Wei Guan et autres

Background: Newborn genetic screening (NBGS) based on next-generation sequencing offers enhanced disease detection and better detection rates than traditional newborn screening. However, challenges remain, especially around reporting the NBGS carrier results. Therefore, we aimed to investigate the NBGS carrier parents' views on …

cn (code pays fourni par la source)

Newborn genetic screening is highly effective for high-risk infants: A single-centre study in China

Xin Wang, Yun Sun, Xian-Wei Guan, Yanyun Wang et autres

Background: Newborn genetic screening (NBGS) is promising for early detection of genetic diseases in newborns. However, little is known about its clinical effectiveness in special groups like high-risk infants. To address this gap, we aimed to investigate the impact of NBGS on …

jp, au (code pays fourni par la source)

Current attitudes and preconceptions on newborn genetic screening in the Chinese reproductive-aged population

Xin Wang, Xian-Wei Guan, Yanyun Wang, Zhilei Zhang et autres

PURPOSE: Newborn screening (NBS) applications are limited as they can only cover a few genetic diseases and may have false positive or false negative rates. A new detection program called newborn genetic screening (NBGS) has been designed to address the potential defects …

cn (code pays fourni par la source)

Relationship Between Amniotic Fluid Metabolic Profile With Fetal Gender, Maternal Age, and Gestational Age

Yahong Li, Yun Sun, Xiaojuan Zhang, Xin Wang et autres

Abstract Background Amniotic fluid (AF) provides vital information on fetal development, which is also valuable in identifying fetal abnormalities during pregnancy. However, the relationship between the metabolic profile of AF in the second trimester of a normal pregnancy with several maternal-fetal parameters …

us, cn (code pays fourni par la source)