Fetal Hyperthyroidism with Maternal Hypothyroidism: Two Cases of Intrauterine Therapy.

Fetal hyperthyroidism can occur secondary to maternal autoimmune hyperthyroidism. The thyroid-stimulating hormone receptor antibody (TRAb) transferred from the mother to the fetus stimulates the fetal thyroid and causes fetal thyrotoxicosis. Fetuses with this condition are difficult to detect, especially after maternal Graves disease therapy.

Effects of on cognitive function in mice and the regulatory network of determined by RNA sequencing and applied bioinformatics analysis.

is a 118-bp segment that lies in a pair of novel non-coding RNA genes. It shows a dramatic accelerated change with an estimated 18 substitutions in the human lineage since the human-chimpanzee ancestor, compared with the expected 0.27 substitutions based on the slow rate of change in this region in other amniotes.

Abnormal Y chromosome detection in infertile males using multiplex ligation-dependent probe amplification.

Y chromosome abnormalities are the leading cause of male infertility. The clinical detection of abnormalities is necessary for appropriate genetic counselling. This study describes the prevalence, distribution and characteristics of Y chromosome abnormalities, which should be considered in the clinical management of infertile males.

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.

Identification of copy number variants by NGS-based NIPT at low sequencing depth.

Objective: To explore the clinical utility of detecting chromosome copy number variants (CNVs) in the fetus by noninvasive prenatal testing (NIPT) using the low-pass whole-genome sequencing.

Methods: Eight hundred and seventy-three singleton pregnancies with chromosomal microarray analysis (CMA) available between January 2017 to December 2019 and stored enough plasma sample for NIPT testing were included in this study. The CMA results show that forty-eight pregnancies with CNVs and eight hundred and twenty-five pregnancies are normal.

[Effects, safety and cost-benefit analysis of Down syndrome screening in first trimester].

Objective: To investigate the effects, safety and cost-benefit analysis of Down syndrome screening in first trimester.

Methods: From January 2009 to December 2012, 43 729 pregnant women undergoing 3 methods of Down syndrome traditional screening strategies in Shenzhen Maternity and Child Healthcare Hospital were studied retrospectively, including in 17 502 cases in pregnancy associated plasma protein A (PAPP-A) and free β-hCG measured biochemistry screening, 14 080 cases in nuchal translucency (NT) screening and 12 147 cases in combined screening, meanwhile, 7 389 cases on non-invasive fetal trisomy test (NIFTY) were performed in Huada Gene Research Institute(BGI). The effects and safety of four screening strategies were assessed throughout a decision tree.

[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.