Association of iron homeostasis-related gene polymorphisms with pregnancy and neonatal outcomes in patients with gestational diabetes mellitus.

Objective: The purpose of this study was to assess associations between iron homeostasis-related gene polymorphisms and gestational diabetes mellitus (GDM), adverse pregnancy outcomes, and neonatal outcomes.

Methods: In total, 138 patients with GDM and 74 normal pregnancy controls were recruited. Time-of-flight mass spectrometry was used to genotype single-nucleotide polymorphisms (H63D rs1799945, TMPRSS6 rs855791, GDF15 rs1059369, rs4808793, BMP2 rs173107, C282Y rs3811647, rs1800562, rs269853, TF rs8177240, TFR2 rs7385804, FADS2 rs174577, and CUBN rs10904850) in 12 candidate genes related to iron homeostasis.

Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice.

This study aimed to assess the efficiency of CNV-seq and WES in detecting genetic cause of congenital heart disease (CHDs) in prenatal diagnoses and to compare CNV detection rate between isolated and non-isolated CHD cases. We conducted a retrospective study of 118 Chinese fetuses diagnosed with CHD by prenatal ultrasound. Participants underwent CNV-seq and, if necessary, WES to detect chromosomal and single nucleotide variations.

The relationship between pregnancy stress and mental health of the pregnant women: the bidirectional chain mediation roles of mindfulness and peace of mind.

Objective: This study aimed to investigate the relationship between pregnancy stress and mental health of the pregnant women, employing a positive psychology perspective. Specifically, the study sought to explore how the two positive psychological qualities of mindfulness and peace of mind may serve as potential mediators in the association between pregnancy stress and mental health of the pregnant women.

Methods: Seven hundreds and thirteen pregnant women seeking care at the First Affiliated Hospital of Sun Yat-Sen University were included in this study.

[Clinical features and genetic analysis of two fetuses with ring chromosome 21 mosaicism].

Objective: To investigate the perinatal clinical phenotype and genetic characteristics of two fetuses with ring chromosome 21 mosaicisms.

Methods: Two fetuses who were diagnosed at the Xiamen Maternal and Child Health Care Hospital in November 2021 were selected as the study subjects. Clinical data of the two fetuses were collected.

Fetal Tethered Spinal Cord: Diagnostic Features and Its Association with Congenital Anomalies.

Objective: We assessed the frequency and type of associated congenital anomalies encountered with fetal tethered spinal cord (TSC) determined prenatally.

Method: A retrospective review was conducted based on the associated fetal abnormalities following diagnosis of low-lying fetal conus medullaris during the prenatal ultrasound.

Results: Of the 26 fetuses with low-lying conus medullaris, four were solitary TSC and 22 had TSC combined with associated congenital malformations, including four cases with spina bifida occulta, four cases with spina bifida aperta, one case with severe hydrocephalus, and 13 cases with multisystem congenital malformations.

An Analysis on the Factors for Cervical Insufficiency Causing Adverse Emotions Among Pregnant Women at Different Gestation Phases.

Background: To analyze the anxiety, depression, and related factors among pregnant women with cervical insufficiency, so as to provide a reference for clinical psychological intervention as an adjuvant therapy.

Methods: A total of 101 cases in China with cervical insufficiency were included in the observation group by a convenience sampling method, and 114 normal healthy women of childbearing age were selected as the control group. Participants were investigated and observed for anxiety and depression by SAS and SDS, respectively, to analyze the emotional state and influencing factors of the patients with cervical insufficiency.

Clinical Utility of the Prenatal BACs-on-Beads™ Assay in Invasive Prenatal Diagnosis.

The prenatal BACs-on-Beads™ (PNBoBs™) assay has been applied worldwide for prenatal diagnosis. However, there are neither guidelines nor consensus on choosing patients, sample types, or clinical pathways for using this technique. Moreover, different perspectives have emerged regarding its clinical value.

Meta-analysis: association of homocysteine with recurrent spontaneous abortion.

We analyzed the differences in serum homocysteine levels between patients with a history of recurrent spontaneous abortion (RSA) and those who had not experienced pregnancy-related complications. To this end, we retrieved literature and data on the association of RSA and serum homocysteine levels published before September 1st 2019 from the PubMed, EMBASE, China National Knowledge Infrastructure, and Wanfang databases. We further narrowed our literature review by focusing on peer-reviewed and full-text literature reporting on studies that used similar research methods and provided raw data or means and standard deviations while reporting results.

Overexpression of the PLK4 Gene as a Novel Strategy for the Treatment of Autosomal Recessive Microcephaly by Improving Centrosomal Dysfunction.

Autosomal recessive microcephaly and chorioretinopathy (MCCRP) is a neurodevelopmental disorder characterized by delayed psychomotor development, growth retardation with dwarfism, and ocular abnormalities, and its occurrence has been found to be closely related to variants of the gene encoding centrosomes. However, the association between centrosomal duplication defects and the etiology of microcephaly syndromes is poorly understood. It is well known that polo-like kinase 4 (PLK4) is a key regulator of centriole duplication, and the abnormalities of centrosomal function caused by its protein variation need to be further explored in the pathogenesis of microcephaly.

Prenatal diagnosis of familial recessive PIGN mutation associated with multiple anomalies: A case report.

Objective: We present a novel homozygous splice site mutation in the PIGN gene identified by whole exome sequencing and explored the genotype-phenotype correlation.

Case Report: A healthy 32-year-old woman underwent an ultrasound at 13 + 5 weeks of gestation. The ultrasound revealed multiple anomalies again including cystic hygroma, omphalocele and a ventricular septal defect.

The role of DNA methylation in syndromic and non-syndromic congenital heart disease.

Congenital heart disease (CHD) is a common structural birth defect worldwide, and defects typically occur in the walls and valves of the heart or enlarged blood vessels. Chromosomal abnormalities and genetic mutations only account for a small portion of the pathogenic mechanisms of CHD, and the etiology of most cases remains unknown. The role of epigenetics in various diseases, including CHD, has attracted increased attention.

[Diagnosis of a fetus with X-linked hydrocephalus due to mutation of L1CAM gene].

Objective: To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus.

Methods: Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters.

Results: The fetus was found to harbor a c.

Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases.

Aim: Achondrogenesis type II is a rare, lethal osteochondrodysplasia with considerable phenotypic heterogeneity. We describe our experience in diagnosing prenatal-onset achondrogenesis type II by a multidisciplinary assessment.

Methods: Two cases of fetal achondrogenesis type II were analyzed retrospectively using prenatal ultrasound evaluation, postnatal radiographic diagnosis, and molecular genetic testing of .

Mutation Analysis of COL1A1 and COL1A2 in Fetuses with Osteogenesis Imperfecta Type II/III.

Aim: To analyze COL1A1/2 mutations in prenatal-onset OI for determine the proportion of mutations in type I collagen genes among prenatal onset OI and to provide additional data for genotype-phenotype analyses.

Material And Methods: Ten cases of severe fetal short-limb dwarfism detected by antenatal ultrasonography were referred to our center. Before the termination of pregnancy, cordocentesis was performed for fetal karyotype and COL1A1/2 gene sequencing analysis.

Diagnosis of fetal osteogenesis imperfecta by multidisciplinary assessment: a retrospective study of 10 cases.

Objective: To describe our 2 year experience in diagnosing prenatal-onset osteogenesis imperfecta (OI) by multidisciplinary assessment.

Methods: We retrospectively analyzed 10 cases of fetal OI by using prenatal ultrasound evaluation, postnatal radiographic diagnosis, and molecular genetic testing of COL1A1/2.

Results: By postnatal radiographic examination, five patients were diagnosed with type II OI and five were diagnosed with type III OI.

[Clinical application of real-time PCR for the detection of genetic mutations underlying spinal muscular atrophy].

Objective: To verify the reliability of real-time PCR for the detection of genetic mutations underlying spinal muscular atrophy (SMA) and establish quality control for clinical testing.

Methods: Thirty-five patients, 61 first-degree relatives, 61 healthy controls and 7 prenatal cases which were previously genotyped by multiplex ligation-dependent probe amplification (MLPA) were tested with Roche LightCycler 480 and Bio-Rad CFX96 (TM) real-time PCR machines for relative quantification of copy number of SMN1 exon 7.

Results: Genotyping detected by relative quantitative real-time PCR were consistent with the results of MLPA.

Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies.

Objective: The objective of this study is to assess the performance of noninvasive prenatal testing for trisomies 21 and 18 on the basis of massively parallel sequencing of cell-free DNA from maternal plasma in twin pregnancies.

Method: A double-blind study was performed over 12 months. A total of 189 pregnant women carrying twins were recruited from seven hospitals.

Rapid prenatal diagnosis of common numerical chromosomal abnormalities by high-resolution melting analysis of segmental duplications.

Background: Rapid aneuploidy detection (RAD) methods constitute important complements to karyotyping in prenatal diagnosis. We evaluated the effectiveness of a method called high-resolution melting analysis of segmental duplications (SD-HRM) to serve as an alternative RAD method in prenatal diagnosis of common numerical chromosomal abnormalities (NCAs).

Methods: We designed eight primary SD-HRM assays for the detection of chromosomes 13, 18, 21, X, and Y; 50 chorionic villus, 1105 amniotic fluid, and 395 cord blood samples were examined using these eight assays.

Pregnancy with concomitant chorioangioma and placental mesenchymal dysplasia: a rare placental abnormality.

Background. Pregnancy with concomitant chorioangioma and placental mesenchymal dysplasia (PMD) coexisting with a normal viable fetus is very rare. The literature was reviewed to explore the incidence and genetic origin of this condition.

Investigation of the frequencies of prenatally diagnosed fetal chromosomal abnormalities at a single institution.

The objective of this study was to investigate, retrospectively, the frequencies of fetal chromosomal abnormalities identified in 4176 prenatal cytogenetic examinations at the Xiamen Maternity and Child Health Care Hospital over the 5-year period from October 2005 to September 2010. The frequency of abnormal fetal karyotypes was 4.6%.

Macrophage migration inhibitory factor enhances neoplastic cell invasion by inducing the expression of matrix metalloproteinase 9 and interleukin-8 in nasopharyngeal carcinoma cell lines.

Background: Nasopharyngeal carcinoma (NPC) shows highly invasive and metastatic features. This study aims to investigate macrophage migration inhibitory factor (MIF)-induced invasion of NPC cells in vitro and the effects on matrix metalloproteinases (MMPs) and interleukin-8 (IL-8), and to study the mechanism of tumor cell invasion and metastasis in the early stage of NPC.

Methods: Two nasopharyngeal carcinoma cell lines, CNE-1 and CNE-2, were adopted in this study.