Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results.

Objective: To present the experience on prenatal diagnosis of Wolf-Hirschhorn syndrome (WHS) to further delineate the fetal presentation of this syndrome.

Study Design: This was a retrospective analysis of ten pregnancies with fetal WHS identified by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, sonographic findings, CMA results and pregnancy outcomes.

What would be missed in the first trimester if nuchal translucency measurement is replaced by cell free DNA foetal aneuploidy screening?

The aim of this study was to evaluate which chromosomal abnormalities in our cohort of foetuses with increased nuchal translucency (NT) in the first trimester of pregnancy could be detected by cell free (cf)DNA screening as well. There were 775 singleton pregnancies referred for cytogenetic testing due to an increased NT (≥3.0 mm).

Clinical outcome of pregnancies with the prenatal double bubble sign - a five-year experience from one single centre in mainland China.

The aim of this study was to describe the risk of aneuploidy, associated structural anomalies and clinical outcome in pregnancies with the prenatal double bubble sign. A retrospective study on ultrasound reports and pregnancy outcomes was performed in 71 foetuses with double bubble sign, who were examined at the Guangzhou Women and Children Medical Center during a five-year period. Forty-nine patients had the regular prenatal care since first trimester; of these, 20 had the sonographic sign before 24 weeks and the remaining 29 had the sonographic diagnosis after 24 weeks.

[Research Progress on Genetic Factors and Hemophilia A Clotting Factor Inhibitor-Review].

Hemophilia A (Hemophilia A, HA) is an X-linked recessive hereditary coagulation function disorder, the deficiency and dysfunction of blood coagulation were caused by the mutations of gene encoding clotting factor VIII. The treatment of hemophilia A still depends on the replacement therapy with blood coagulation factor. However, the repeated infusion of clotting factor will produce the neutralizing antibody against FVIII, then resulting in one of the serious complications.

Prenatal diagnosis and early postnatal management of pyriform sinus cyst: experience at a single medical center in mainland China.

Objective: The aim of this study was to determine whether prenatal diagnosis of pyriform sinus cyst can improve the prognosis of this disorder.

Methods: A retrospective review was performed in 15 neonates with a pyriform sinus cyst seen at a single center between 2010 and 2014. Among the 15 cases, the diagnosis was made prenatally in eight cases (PreD), while the diagnosis was made postnatally in seven cases (PostD).

Prenatal diagnosis of fetuses with increased nuchal translucency using an approach based on quantitative fluorescent polymerase chain reaction and genomic microarray.

Objective: To assess the clinical value of prenatal diagnosis of fetuses with increased nuchal translucency (NT) using an approach based on quantitative fluorescent polymerase chain reaction (QF-PCR) and chromosomal microarray (CMA).

Study Design: From January 2013 to October 2014, we included 175 pregnancies with fetal NT ≥ 3.5mm at 11-13 weeks' gestation who received chorionic villus sampling.

The mortality of patients in a pediatric emergency department at a tertiary medical center in China: An observational study.

Background: The quality of treatment for critically ill children varies widely at different hospitals. This study aimed to analyze the characteristics of mortality in a pediatric emergency department (PED) at a tertiary children's hospital in Guangzhou, China and to investigate the risk factors associated with the mortality.

Methods: The mortality of pediatric patients at the hospital from 2011 to 2013 was retrospectively analyzed using descriptive statistics.

[Interleukin-10 receptor mutations in children with neonatal onset inflammatory bowel disease: genetic diagnosis and pathogenesis].

Objective: To explore use of interleukin-10 receptor (IL-10R) gene mutation in diagnosis and pathogenesis of neonatal inflammatory bowel disease (IBD) in 2 suspected cases.

Method: Two cases of sibling brothers who had suspected IBD from Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University during the year 2010-2014 were enrolled in the study. The proband, male, 26 days old, weight 3.