Influencing factors and effects of low oocyte retrieval in patients with polycystic ovary syndrome undergoing in-vitro fertilization.

Objective: To investigate influencing factors and effects of low oocyte retrieval in patients with polycystic ovary syndrome (PCOS) undergoing in-vitro fertilization (IVF).

Methods: In total, 720 patients with PCOS undergoing IVF were enrolled in this retrospective study from January 2017 to December 2022. The oocyte retrieval rate (ORR) was defined as the ratio of the number of oocytes retrieved to the number of follicles ≥ 12 mm in diameter on the trigger day.

Update on aquaporin-4 antibody detection: the early diagnosis of neuromyelitis optica spectrum disorders.

Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune-mediated primary inflammatory myelinopathy of the central nervous system that primarily affects the optic nerve and spinal cord. The aquaporin 4 antibody (AQP4-Ab) is a specific autoantibody marker for NMOSD. Most patients with NMOSD are seropositive for AQP4-Ab, thus aiding physicians in identifying ways to treat NMOSD.

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.

When NIPT meets WES, prenatal diagnosticians face the dilemma: genetic etiological analysis of 2,328 cases of NT thickening and follow-up of pregnancy outcomes.

To assess the performance of diverse prenatal diagnostic approaches for nuchal translucency (NT) thickening and to investigate the optimal prenatal screening or diagnostic action with a NT thickening of 95th percentile-3.50 mm. A retrospective analysis of 2,328 pregnancies with NT ≥ 95th percentile through ultrasound-guided transabdominal chorionic villus sampling (CVS), amniocentesis, or cordocentesis obtained clinical samples (chorionic villi, amniotic fluid, and cord blood), and real-time quantitative fluorescent PCR (QF-PCR), chromosome karyotyping (CS), chromosome microarray analysis (CMA), or whole exome sequencing (WES) were provided to identify genetic etiologies.

Safety of gender affirming treatment in assigned female at birth transgender people and association of androgen and estrogen β receptor polymorphisms with clinical outcomes.

Purpose: Gender affirming hormone treatment (GAHT) with androgens in assigned female at birth (AFAB) people with Gender Incongruence (GI) can induce and maintain variable phenotypical changes, but individual response may be genetically determined. To clarify the role of AR and ERβ polymorphisms we prospectively evaluated AFAB subjects undergoing virilizing GAHT.

Methods: Fifty-two AFAB people with confirmed GI were evaluated before (T0) and after 6 (T6) and 12 months (T12) of testosterone enanthate 250 mg i.

Current status and challenges in prenatal and neonatal screening, diagnosis, and management of congenital heart disease in China.

Congenital heart disease (CHD), a wide spectrum of diseases with varied outcomes, is the most common congenital malformation worldwide. In this Series of three papers, we describe the burden of CHD in China; the development of screening, diagnosis, treatment, and follow-up strategies; and challenges associated with the disease. We also propose solutions and recommendations for policies and actions to improve the outcomes of CHD.

A spectrum of clinical severity of recessive titinopathies in prenatal.

Variants in TTN are associated with a broad range of clinical phenotypes, from dominant adult-onset dilated cardiomyopathy to recessive infantile-onset myopathy. However, few foetal cases have been reported for multiple reasons. Next-generation sequencing has facilitated the prenatal identification of a growing number of suspected titinopathy variants.

Clinical and molecular cytogenetic findings and pregnancy outcomes of fetuses with isochromosome Y.

Background: The mosaic forms and clinical phenotypes of fetuses with isochromosome Y are difficult to predict. Therefore, we summarized the cases of nine fetuses with isochromosome Y identified in prenatal diagnosis with a combination of molecular cytogenetic techniques, providing clinical evidence for prenatal genetic counseling.

Methods: The prenatal diagnosis and pregnancy outcomes of nine fetuses with isochromosome Y were obtained by a  retrospective analysis.

Non-Invasive Prenatal Diagnosis of Monogenic Disorders Through Bayesian- and Haplotype-Based Prediction of Fetal Genotype.

Non-invasive prenatal diagnosis (NIPD) can identify monogenic diseases early during pregnancy with negligible risk to fetus or mother, but the haplotyping methods involved sometimes cannot infer parental inheritance at heterozygous maternal or paternal loci or at loci for which haplotype or genome phasing data are missing. This study was performed to establish a method that can effectively recover the whole fetal genome using maternal plasma cell-free DNA (cfDNA) and parental genomic DNA sequencing data, and validate the method's effectiveness in noninvasively detecting single nucleotide variations (SNVs), insertions and deletions (indels). A Bayesian model was developed to determine fetal genotypes using the plasma cfDNA and parental genomic DNA from five couples of healthy pregnancy.

Epidemiology of Birth Defects in Eastern China and the Associated Risk Factors.

BACKGROUND This study aimed to survey the overall situation of birth defects (BDs) among citizens of Hangzhou, China, and the risk factors of different BD types. MATERIAL AND METHODS We collected the data of 4349 perinatal infants with BDs in Hangzhou. The potentially associated risk factors of BDs were recorded and logistic regression analysis was used to predict the high incidence of BDs.

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.

A Multidisciplinary Approach in Prenatal Diagnosis of TSC With Cardiac Rhabdomyoma as the Initial Symptom.

The long-term prognosis of a fetus with cardiac rhabdomyoma (CR) depends on the correlation with tuberous sclerosis complex (TSC). In recent years, the numerous variations of uncertain significance (VUS) of TSC genes produced by high-throughput sequencing have made counseling challenging, studies until now have tended to side-step the tricky topics. Here, we integrated detailed parental phenotype, echocardiography, neuro MRI, and genetic information to conduct a comprehensive evaluation of 61 CR fetuses.

Regulatory Non-coding RNAs for Death Associated Protein Kinase Family.

The death associated protein kinases (DAPKs) are a family of calcium dependent serine/threonine kinases initially identified in the regulation of apoptosis. Previous studies showed that DAPK family members, including DAPK1, DAPK2 and DAPK3 play a crucial regulatory role in malignant tumor development, in terms of cell apoptosis, proliferation, invasion and metastasis. Accumulating evidence has demonstrated that non-coding RNAs, including microRNA (miRNA), long non-coding RNA (lncRNA) and circRNA, are involved in the regulation of gene expression and tumorigenesis.

A Novel Multi-Exon Deletion of in a Three-Generation Pedigree: Supplements to Neurodevelopmental Disorder Spectrum.

neurodevelopmental disorder (-NDD) is a category of rare disorder characterized by intellectual disability, speech delay, dysmorphic facial features, and developmental delay. Other various physical abnormalities of -NDD might involve all organs and systems. Notably, there were only two unique missense mutations [c.

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.

Association between Levels of Total Cell-Free DNA and Development of Preeclampsia-A Literature Review.

 The aim of the study is to synthesize the evidence and evaluate the total cell-free deoxyribonucleic (cfDNA) associated with the prediction of preeclampsia (PE). Total cfDNA is constituted by both cell-free fetal DNA (cffDNA) originated mainly from the placenta, and maternal cfDNA derived from maternal leukocytes.  A systematic review was conducted by searching PubMed and Medline.

Evaluation of interpretation methods to improve accuracy of the prenatal BACs-on-Beads™ assay in prenatal diagnosis.

Prenatal BACs-on-Beads™ (PNBoBs™) technology has been approved for use in routine clinical prenatal diagnosis in numerous countries. However, the influence of data interpretation on the accuracy of the results remains to be evaluated. The present study aimed to determine the accuracy of existing data interpretation approaches and develop an optimization method to improve the performance of the PNBoBs™ assay in prenatal diagnosis.

Hydrops fetalis associated with anti-CD36 antibodies in fetal and neonatal alloimmune thrombocytopenia: Possible underlying mechanism.

Objectives: In the present study, we asked whether anti-CD36 antibodies impair the maturation of erythropoietic stem cells to mature red blood cells (RBCs), leading to anaemia and hydrops fetalis (HF).

Background: Recent studies have shown the importance of anti-CD36 antibodies in the development of Fetal/Neonatal Alloimmune Thrombocytopenia (FNAIT). In comparison to other types of antibody-mediated FNAIT, anti-CD36 antibodies are frequently associated with anaemia and HF.

Potential influence of parental copy number variations on noninvasive prenatal testing (NIPT): two case reports.

Background: Small subchromosomal deletions and duplications caused by copy number variants (CNVs) can now be detected with noninvasive prenatal testing (NIPT) technology. However, the clinical utility and validity of this screening for CNVs are still unknown. Here, we discuss some special conditions in which both cases simultaneously exhibited false positives caused by maternal CNVs and false negatives due to limitations of the technology.

Noninvasive prenatal diagnosis for pregnancies at risk for β-thalassaemia: a retrospective study.

Objective: To evaluate the clinical feasibility of noninvasive prenatal diagnosis (NIPD) for β-thalassaemia using circulating single molecule amplification and re-sequencing technology (cSMART).

Design: Through carrier screening, 102 pregnant Chinese couples carrying pathogenic HBB gene variants were recruited to the study. Pregnancies were managed using traditional invasive prenatal diagnosis (IPD).

Circulating levels of IFN-γ, IL-1, IL-17 and IL-22 in pre-eclampsia: A systematic review and meta-analysis.

Objective: Pre-eclampsia (PE) is a common multi-systemic disease, and the effect of cytokines on PE is not clear. The purpose of this meta-analysis was to evaluate the circulating levels of interferon gamma (IFN-γ), interleukin (IL)-1, IL-17 and IL-22 in patients with PE.

Study Design: Relevant studies were identified after a preliminary investigation of studies published up to May 2019 using PubMed and Embase.