The Genetics of 241 Fetuses With Talipes Equinovarus: A 8-Year Monocentric Retrospective Study.

Objective: This study aims to investigate the utility of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in fetuses diagnosed with talipes equinovarus (TE), as well as to explore the genetic factors contributing to TE.

Methods: The study reviewed a total of 241 fetuses with TE between January 2015 and December 2023, categorizing them into two groups based on the absence or presence of additional ultrasound anomalies: 163 cases (67.6%) in the isolated TE group and 78 cases (32.

Routine antenatal molecular testing for α-thalassemia at a tertiary referral hospital in China: ten years of experience.

Objective: This study aimed to evaluate the efficacy of α-thalassemia gene testing as a part of an antenatal intervention program over a 10-year period.

Methods: All patients underwent α-thalassemia gene testing, which included the analysis of three types of deletions and mutations. Rare α-thalassemia gene testing was performed using Sanger sequencing, multiplex ligation-dependent probe amplification, and sequencing techniques.

Malformations of cortical development: Fetal imaging and genetics.

Background: Malformations of cortical development (MCD) are a group of congenital disorders characterized by structural abnormalities in the brain cortex. The clinical manifestations include refractory epilepsy, mental retardation, and cognitive impairment. Genetic factors play a key role in the etiology of MCD.

Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus.

Congenital hydrocephalus (CH) is a severe birth defect, and genetics components is an important etiology. Whole-exome sequencing (WES) has been proven to be a feasible approach for prenatal diagnosis of CH. In this study, we carried out WES on three fetuses with cerebral ventriculomegaly.

Epidemiology of fetal cerebral ventriculomegaly and evaluation of chromosomal microarray analysis versus karyotyping for prenatal diagnosis in a Chinese hospital.

Objective: To evaluate the efficiency and incremental value of chromosomal microarray analysis as compared with standard karyotyping for the identification of genomic abnormalities in fetal DNA.

Methods: This retrospective study enrolled female patients with ultrasonographically diagnosed fetal ventriculomegaly. The prevalence, associated anomalies and clinical outcomes of ventriculomegaly were evaluated based on data from a single maternal and child health hospital in southwest China.

Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases.

Non-immune hydrops fetalis (NIHF) is a complex condition with a high mortality and morbidity rate. Here we report the etiology and outcome of 1004 fetuses with NIHF, in a large single Maternal and Children's hospital of Southern China, since the year of 2009 to 2016. Among these 1004 fetuses with NIHF, the etiology was identified prenatally in 722 of them (72%).

Genetic Testing and Pregnancy Outcome Analysis of 362 Fetuses with Congenital Heart Disease Identified by Prenatal Ultrasound.

Background: Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be associated with chromosomal abnormalities. Currently, patients with CHD are routinely offered karyotyping and chromosomal microarray (CMA) testing, but the genotype-phenotype relationship has not yet been fully established.

Objective: To determine the type and frequency of chromosomal abnormalities in fetuses with CHD and to analyze pregnancy outcomes of fetuses with heart abnormalities caused by different genetic factors.

Etiology and Perinatal Outcome of Nonimmune Hydrops Fetalis in Southern China.

 This study aims to analyze the etiology and perinatal outcome of nonimmune hydrops fetalis (NIHF) in Southern China.  All cases with NIHF diagnosed antenatally from January 1, 2007 to December 31, 2014 were identified and analyzed.  Total 482 cases of NIHF were identified during the study period.

Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.

Background: Defects in the human TSHR gene are reported to be one of the causes of CH due to thyroid dysgenesis, the purpose of this study was to examine the TSHR mutation spectrum and prevalence in congenital hypothyroidism (CH) and subclinical congenital hypothyroidism (SCH) patients in the Guangxi Zhuang Autonomous Region of China and to evaluate the genotype-phenotype correlations.

Methods: Blood samples were collected from 384 patients including 240 CH and 144 SCH patients in Guangxi, China. Genomic DNA was extracted from peripheral blood leukocytes.

Decreased endometrial vascularity and receptivity in unexplained recurrent miscarriage patients during midluteal and early pregnancy phases.

Objective: To evaluate the predictive value of three-dimensional (3D)-power Doppler sonography on recurrent miscarriage.

Materials And Methods: The study patients were divided into a recurrent miscarriage group (30 cases) and a normal pregnancy group (21 cases). Measurement of endometrial thickness was performed using two-dimensional transvaginal ultrasound in the midluteal phase.

Hb H Hydrops Fetalis Syndrome Caused by Association of the - -(SEA) Deletion and Hb Constant Spring (HBA2: c.427T > C) Mutation in a Chinese Family.

Hb Constant Spring (Hb CS; HBA2: c.427T > C) is an unstable hemoglobin (Hb) variant that results from a nucleotide substitution at the termination codon of the α2-globin gene. Compound heterozygosity for α(0)-thalassemia (α(0)-thal) and Hb CS (- -(SEA)/α(CS)α) results in Hb H/Hb CS disease, which is generally characterized with mild hemolytic anemia, jaundice, and splenomegaly.

[Cytogenetic analysis of 105 new human abnormal karyotypes].

To analyze the genetic effect of the abnormal chromosome karyotype, we summarized and studied the clinical data of the new abnormal karyotypes diagnosed at the Guangxi Zhuang Autonomous Region Women and Children Care Hospital from January 2009 to July 2012. The samples were cultured routinely for the karyotype analysis using G banding and C banding. Chromosomal aberrations were named according to the International System for Human Cytogenetic Nomenclature (ISCN 2009).

Detection of a novel large deletion causing α-thalassemia in South China.

α-Thalassemia is an inherited autosomal recessive disorder. It is one of the most common monogenic abnormalities known in the world and is prevalent in tropical and subtropical regions. α-Thalassemia is more frequently caused by deletional type than non-deletional type.

Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p.

Background: Wolf-Hirschhorn syndrome (WHS) is caused by a deletion involving the 4p16.3 region. Approximately 70% of WHS patients have a de novo isolated deletion and 22% involve unbalanced translocations.

Tei index: the earliest detectable cardiac structural and functional abnormality detectable in Hb Bart's foetal edema.

Objective: Premature death and still births are common in Hb Bart's foetal edema which carries significant risk to mothers. We aimed to identify early changes in cardiac structure and function in a cohort of HB Bart's foetuses, using Doppler echocardiography.

Methods: We studied 97 HB Bart's foetuses in different gestation groups; I (20-24 weeks),.