A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed cases.

Background: X-linked recessive chondrodysplasia punctata 1 (CDPX1) is a rare congenital skeletal dysplasia characterized by stippled epiphyses, nasal hypoplasia, and brachytelephalangy. ARSL (formerly known as ARSE), a member of the sulfatase gene family located on Xp22.3, has been identified as the causative gene for CDPX1.

Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report.

Background: Recurrent pregnancy loss (RPL) is a common pregnancy complication that brings great pain to pregnant women and their families. Genetic factors are an important cause reason of RPL. However, clinical research on monogenic diseases with recurrent miscarriage is insufficient.

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.

Background: Short-rib polydactyly syndrome (SRPS) refers to a group of lethal skeletal dysplasias that can be difficult to differentiate between subtypes or from other non-lethal skeletal dysplasias such as Ellis-van Creveld syndrome and Jeune syndrome in a prenatal setting. We report the ultrasound and genetic findings of four unrelated fetuses with skeletal dysplasias.

Methods: Systemic prenatal ultrasound examination was performed in the second or third trimester.

Functional identification of two novel variants and a hypomorphic variant in from patients with Citrullinemia type I.

Citrullinemia type I (CTLN1) is a rare autosomal recessive inborn error of the urea cycle caused by mutations in the gene encoding the arginosuccinate synthetase (ASS1) enzyme. Classic CTLN1 often manifests with acute hyperammonemia and neurological symptoms. Molecular genetic testing is critical for patient diagnosis.

Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases.

Chromosomal mosaicism remains a perpetual diagnostic and clinical dilemma. In the present study, we detected two prenatal trisomy 9 mosaic syndrome cases by using multiple genetic testing methods. The non-invasive prenatal testing (NIPT) results suggested trisomy 9 in two fetuses.

Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center.

Background: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Prenatal screening of FXS allows for early identification and intervention. The present study explored the feasibility of FXS carrier screening during prenatal diagnosis for those who were not offered screening early in pregnancy or prior to conception.

A project to improve the computerization procedure of emergency nursing record.

This project is to implement the computerization procedure of emergency nursing record. The nursing record must be complete and correct enough to present the uniqueness of different specialty. We encouraged nurses to participate in classroom lessons of informatics technology in nursing records.