Prenatal Diagnosis Using Chromosomal Microarray Analysis in High-Risk Pregnancies.

Background: To assess the value of chromosomal microarray analysis (CMA) during the prenatal diagnosis of high-risk pregnancies. Methods: Between January 2016 and November 2021, we included 178 chorionic villi and 859 amniocentesis samples from consecutive cases at a multiple tertiary hospital. Each of these high-risk singleton pregnancies had at least one of the following indications: (1) advanced maternal age (AMA; ≥35 years; 546, 52.

Novel prenatally diagnosed compound heterozygous POMT2 variants in fetal congenital primary aqueduct stenosis.

Objective: To study the etiology of congenital hydrocephalus in genetic aqueduct stenosis.

Case Report: We report the case of a 31-year-old pregnant female, G2P0A1, with a history of hyperthyroidism under medical control. The patient received regular prenatal care, with no specific findings in the Level II ultrasound at 21 weeks of gestation.

Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome.

Objective: To study prenatal diagnosis of congenital Treacher Collins syndrome, an etiology of craniofacial abnormalities.

Case Report: We present a case of fetal craniofacial abnormalities identified by antepartum sonography screening in the third trimester (28 weeks); features of micrognathia, hypoplastic zygomatic arches and bilateral low-set microtia were detected. Due to the unknown severity of the craniofacial abnormalities and poor prognosis, the parents decided to terminate the fetus after through counselling.

Novel prenatally diagnosed compound heterozygous PXDN variants in fetal congenital primary aphakia and blepharophimosis.

Objective: To precision survey a fetal congenital primary aphakia molecular etiology.

Case Report: A case of 42 years old pregnancy woman prenatal diagnostic examination by amniocentesis conducted at 17 weeks' gestation and demonstrated a normal female karyotype. Trio studies based on chromosome microarray analysis (CMA) and Sanger's genetic analysis did not detect a pathologic variant of the FOXE3 gene.

Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy.

Objective: To report a prenatal diagnosis of int22h1/int22h2-mediated Xq28 duplication syndrome.

Case Report: Herein, we present the case of a 28-year-old female who had a previous ambiguous genitalia pregnancy without genetic abnormality that was terminated at 23 weeks of gestation. The fetus of the current pregnancy harbored a de novo copy number variation at the Xq recurrent region (int22h1/int22h2-flanked; including the RAB39B gene) with a 0.

Ectopic and high CXCL13 chemokine expression in myasthenia gravis with thymic lymphoid hyperplasia.

Myasthenia gravis (MG) is an antibody and complement mediated autoimmune disease. Serum CXC chemokine ligand 13 (CXCL13) was found to be elevated in MG patients and high CXCL13 level was associated with severe clinical stages, especially in females with thymic lymphoid hyperplasia. Both protein and mRNA of CXCL13 and CXC chemokine receptor 5 (CXCR5) in the thymic tissues were significantly higher in MG patients with lymphoid hyperplasia than those with thymoma.

Serum BLC/CXCL13 concentrations and renal expression of CXCL13/CXCR5 in patients with systemic lupus erythematosus and lupus nephritis.

Objective: Systemic lupus erythematosus (SLE) is a prototype of systemic autoimmune disease in which cytokines such as B lymphocyte chemoattractant (BLC, or CXC motif ligand 13, CXCL13) may play important roles in pathogenesis. We investigated the implications of CXCL13 in SLE and lupus nephritis.

Methods: Serum samples from 425 patients with SLE and 106 healthy control individuals were analyzed for the concentration of CXCL13 by ELISA.

Dysregulation of GIMAP genes in non-small cell lung cancer.

The GIMAP (GTPase of the immunity-associated protein) gene family includes seven functional members residing on human chromosome 7. GIMAP genes encode GTP-binding proteins that share a unique primary structure and whose function is largely unknown. However, gene ablation studies reveal that Gimap4 plays an important role in regulating the apoptosis of T cells.