Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency.

Pfeiffer syndrome (PS) is a rare autosomal dominant genetic disorder characterized by craniosynostosis, broad thumbs / toes. Here, we report a case of PS type 2 with increased nuchal translucency in early trimester.

An induced pluripotent stem cell line (GZHMCi004-A) derived from a fetus with heterozygous G380R mutation in FGFR3 gene causing achondroplasia.

Achondroplasia (ACH; MIM #100800) is an autosomal dominant genetic disease caused by gain-of-function mutations in FGFR3 gene and results in short-limb dwarfism. Here, we generated an induced pluripotent stem cell line GZHMCi004-A derived from umbilical cord blood mononuclear cells (UCBMCs) of a fetus with heterozygous G380R mutation in FGFR3 gene. This iPSC line is a valuable in vitro model to study the pathological mechanism and the treatment of ACH.

An induced pluripotent stem cell line (GZHMCi003-A) derived from a fetus with exon 3 heterozygous deletion in RUNX2 gene causing cleidocranial dysplasia.

Cleidocranial dysplasia (CCD; MIM #119600) is an autosomal dominant genetic disorder caused by heterozygous loss-of-function mutation of the RUNX2 gene, which is important in the differentiation of osteoblasts and maturation of chondrocytes. In this study, we generated an induced pluripotent stem cell line GZHMCi003-A derived from umbilical cord blood mononuclear cells (UCBMCs) of a fetus with heterozygous deletion of the exon 3 in RUNX2 gene. This iPSC line is an ideal in vitro model to study the pathological mechanism and the treatment of CCD.

Prenatal diagnosis and long-term follow-up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis.

Mosaic variegated aneuploidy (MVA) is a rare genetic disorder caused by mutations in , or . We describe the prenatal diagnosis, molecular characterization, and clinical management of a long-lived patient with -related MVA.

Cystic hygroma detected in the first trimester scan in Hong Kong.

Objective: To investigate the outcome of fetuses with cystic hygroma (CH) diagnosed at the first trimester from a general population in Hong Kong.

Method: This was a prospective study of 30 fetal cystic hygroma detected at 11 to 13 + 6 weeks' gestation in 8835 sequential unselected pregnancies. Fetal cystic hygroma was categorized as isolated cystic hygroma (ICH) or associated cystic hygroma (ACH) according to the presence of associated multiple congenital structural abnormalities (MCA).

[Clinical study on 156 cases with hydrops fetalis].

Objective: To investigate the ultrasound characteristics, etiology and prognosis in hydrops fetalis.

Methods: From September 2002 to May 2010, 156 hydrops fetalis presented in Shenzhen Maternity and Child Healthcare Hospital were studied retrospectively, including ultrasound characteristics, etiology, and prognosis.

Results: All of the 112 typical hydrops fetalis, 20 cases with isolated ascites, 8 cases with isolated pleural effusion, 7 cases with isolated pericardial effusion, 5 cases with isolated subcutaneous edema, 4 cases with isolated placental thickening were observed by ultrasonography.

[The lung injury in postpartum and non-pregnant rabbits after resuscitation from hemorrhagic shock].

Objective: To investigate the difference in the development of acute lung injury after hemorrhagic shock in postpartum and non-pregnant rabbits.

Methods: Hemorrhagic shock/resuscitation was produced on 9 pregnant New-Zealand rabbits postpartum (within 24 hours after giving birth) and 9 non-pregnant controls via carotid artery bleeding and perfusion (i.v.