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 BUB1B, CEP57, or TRIP13. We describe the prenatal diagnosis, molecular characterization, and clinical management of a long-lived patient with BUB1B-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). RESULTS: There were 10 cases of ICH and 20 cases of ACH. The karyotypes were obtained in 29 cases. In the ICH, 30% (3/10) were associated with chromosomal abnormalities. In the ACH, 65% (13/20) were associated with major chromosomal abnormalities. CONCLUSION: This study suggests that the prognosis of cystic hygroma detected in the first trimester is guarded, with high incidence of MCA (66.7%, 20/30) and chromosomal abnormalities (53.3%, 16/30). The findings support detailed ultrasound examination and invasive prenatal diagnosis for cystic hygroma.

[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.) of lactate Ringer solution for 3 hours. The serum level of cytokine tumor necrosis factor-α (TNF-α) and interleukin-10 (IL-10) in the animals were measured at different time points. Lung tissue were taken 3 hours after resuscitation for the determination of malondialdehyde (MDA),the activity of superoxide dismutase (SOD), myeloperoxidase (MPO), dry/wet weight (D/W), nuclear factor-ΚB (NF-ΚB), and mRNA content of intercellular adhesion molecule-1 (ICAM-1). RESULTS: Serum TNF-α (ng/L) and IL-10 (ng/L) in antepartum pregnant rabbits were not significantly different from non-pregnant rabbits (TNF-α: 87.6 ± 6.8 vs. 83.2 ± 5.3; IL-10: 44.9 ± 3.9 vs. 42.7 ± 3.4, both P > 0.05). However, the serum TNF-α increased significantly after delivery (102.5 ± 8.1 vs. 87.6 ± 6.8, P < 0.05). TNF-α and IL-10 increased 1 hour after shock in both postpartum and non-pregnant rabbits. The serum TNF-α in postpartum rabbits was significant higher than non-pregnant rabbits in each resuscitation period (1 hour: 230.0 ± 14.9 vs. 202.0 ± 10.1, 2.5 hours: 290.0 ± 18.6 vs. 236.0 ± 14.4, 4 hours: 265.0 ± 15.9 vs. 217.0 ± 12.8, all P < 0.05), meanwhile the serum IL-10 in postpartum animals was significantly lower than the non-pregnant controls(1 hour: 104.3 ± 6.9 vs. 135.0 ± 7.8, 2.5 hours: 146.8 ± 9.4 vs. 178.3 ± 11.7, 4 hours: 126.0 ± 7.9 vs. 165.8 ± 9.6, all P < 0.05). The value of MDA, MPO, D/W, NF-ΚB activity and ICAM-1 mRNA content in lung tissue of postpartum rabbits were all significant higher than non-pregnant rabbits after resuscitation [MDA (nmol/mg): 52.6 ± 5.9 vs. 39.4 ± 4.7, MPO (U/mg): 4.62 ± 0.85 vs. 3.26 ± 0.62, D/W: 0.186 ± 0.025 vs. 0.143 ± 0.016, NF-ΚB activity (A value): 0.89 ± 0.27 vs. 0.46 ± 0.15, ICAM-1 mRNA: 4.6 ± 1.2 vs. 2.5 ± 0.7, all P < 0.05], but the activity of SOD (U/mg) was lower (47.8 ± 6.7 vs. 63.5 ± 8.2, P < 0.05) in the controls after resuscitation. CONCLUSIONS: Delivery causes significant increase in serum TNF-α in pregnant rabbits. Inflammatory lung injury is more severe in postpartum rabbits after resuscitation from hemorrhagic shock, and the increased serum level of inflammatory mediators may be part of the mechanism for such difference.

[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 major etiology and associated diagnosis consisted of 35.9% (56/156) of non-immune anemia, 9.6% (15/156) of cardiac abnormalities, 7.1% (11/156) of intrauterine infection, 6.4% (10/156) of twin problems, 5.8% (9/156) of meconium peritonitis, 5.1% (8/156) of thoracic-lung disease, 4.5% (7/156) of chromosomal abnormalities, 1.9% (3/156) of immune anemia. Alpha thalassemia was the most common non-immune anemia (96%, 54/56). An etiology and associated diagnosis could be determined in 81.4% (127/156) of cases. Follow-up data showed that 7 cases were fetal death, 110 women elected to terminate their pregnancies, 3 cases lost follow-up, the other 36 cases preserve continuing pregnancy, including 28 liveborn infants and 8 fetal deaths. Etiology of twin-twin transfusion syndrome, meconium peritonitis, congenital chylothorax, intrauterine infection, cardiac abnormalities and so on had survived fetus cases. The survival rate of typical hydrops fetalis in the present series was 3.6% (4/112). CONCLUSIONS: Ascites is the most common characteristics of sonogram in hydrops fetalis. The etiology of hydrops fetalis is extremely complex. The prognosis is associated with the etiology and hydrops subtype.