A Prospective Evaluation of the Diagnostic Utility for Low-Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis.

Objective: The present study aimed to evaluate the efficacy of LC-GS in detecting clinically relevant chromosomal abnormalities in comparison with conventional CMA within a prenatal context.

Methods: We conducted a prospective study involving 200 amniotic fluid samples. All specimens were analyzed via LC-GS and traditional tests, including CMA and karyotyping.

SVseq discloses the genomic complexity of different prenatal, de novo, apparently balanced chromosome rearrangements detected by CMA and karyotype.

Background: Balanced chromosomal rearrangements (BCRs) are common structural variations (SVs), but only a small number of individuals with BCRs exhibit abnormalities. To better understand the different phenotypes in children diagnosed with BCRs during the prenatal period, we plan to thoroughly investigate the SVs and evaluate their pathogenicity in five children with BCRs.

Methods: Five children with BCRs detected through karyotyping and chromosome microarray analysis (CMA) during prenatal diagnoses were analyzed using SVseq technology.

Nephrogenic diabetes insipidus results from a novel in-frame deletion of gene in monozygotic-twin boys and their mother and grandmother.

Objectives: Mutations in the gene are the most common cause of nephrogenic diabetes insipidus (NDI). In-frame deletions of the gene are a rare variant that results in NDI. We report a novel variant of the p.

Genetic analysis of a pedigree with MECP2 duplication syndrome in China.

Background: MECP2 duplication syndrome (MDS) is a rare X-linked genomic disorder that primarily affects males. It is characterized by delayed or absent speech development, severe motor and cognitive impairment, and recurrent respiratory infections. MDS is caused by the duplication of a chromosomal region located on chromosome Xq28, which contains the methyl CpG binding protein-2 (MECP2) gene.

[Study of GCN repeats of PHOX2B gene among individuals from southwest China and diagnosis of two patients with Congenital central hypoventilation syndrome].

Objective: To study the trinucleotide repeats of GCN (GCA, GCT, GCC, GCG) encoding Alanine in exon 3 of the PHOX2B gene among healthy individuals from southwest China and two patients with Congenital central hypoventilation syndrome (CCHS).

Methods: The number and sequence of the GCN repeats of the PHOX2B gene were analyzed by capillary electrophoresis, Sanger sequencing and cloning sequencing of 518 healthy individuals and two newborns with CCHS, respectively.

Results: Among the 1036 alleles of the 518 healthy individuals, five alleles were identified, including (GCN), (GCN), (GCN), (GCN) and (GCN).

[Clinical application of non-invasive prenatal testing for twin pregnancies].

Objective: To evaluate the feasibility of non-invasive prenatal testing (NIPT) for the screening of fetal chromosome aneuploidies in twin pregnancies.

Methods: A total of 2 745 women with twin-pregnancies were subjected for NIPT screening. Chromosomal karyotyping and chromosomal microarray analysis (CMA) were carried out on amniotic fluid samples from those with a high risk for fetal chromosome aneuploidies, and the diagnosis and pregnancy outcome were followed up.

Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses.

Background: Few co-occurrence cases of mosaic aneuploidy and uniparental disomy (UPD) chromosomes have been reported in prenatal periods. It is a big challenge for us to predict fetal clinical outcomes with these chromosome abnormalities because of their highly heterogeneous clinical manifestations and limited phenotype attainable by ultrasound.

Methods: Amniotic fluid samples were collected from four cases.

Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency.

Background: Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, and a wide range of physical findings. Female carriers usually have no clinical phenotype. Occasionally, they may also have heterogeneous features due to non-random inactivation of the X chromosome.

Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies.

Objective: The current study aimed to compare the characteristics of chromosome abnormalities detected by conventional G-banding karyotyping, chromosome microarray analysis (CMA), or fluorescence in situ hybridization (FISH)/CNVplex analysis and further explore the application value of combined karyotype analysis and CMA in prenatal diagnosis with a larger sample size.

Methods: From March 2019 to March 2021, 3710 amniocentesis samples were retrospectively collected from women who accepted prenatal diagnosis at 16 to 22 + 6 weeks of pregnancy. The pregnant women underwent karyotype analysis and CMA.

Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene.

Background: A male individual with a karyotype of 46,XX is very rare. We explored the genetic aetiology of an infertility male with a kayrotype of 46,XX and SRY negative.

Methods: The peripheral blood sample was collected from the patient and subjected to a few genetic testing, including chromosomal karyotyping, azoospermia factor (AZF) deletion, short tandem repeat (STR) analysis for AMELX, AMELY and SRY, fluorescence in situ hybridization (FISH) with specific probes for CSP 18/CSP X/CSP Y/SRY, chromosomal microarray analysis (CMA) for genomic copy number variations(CNVs), whole-genome analysis(WGA) for genomic SNV&InDel mutation, and X chromosome inactivation (XCI) analysis.

Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype.

Background: A rare disease is that an individual with a non-chimeric karyotype of 45,X develops into a male. We explored the genetic aetiology of an infertile male with an apparent 45,X karyotype, which was subsequently verified as cryptic translocation between chromosomes Y and 15.

Methods: DNA was extracted from the patient's peripheral blood.

A novel pathogenic variant from a 46,XY female harboring a nonsense point mutation (G to A) in position 293.

46,XY female is a genetic disorder characterized by gonad gender not consistent with chromosomal sex. The gene mutation is a common cause of 46,XY reversal type 1 (OMIM: 400044). Peripheral blood was collected from a 46,XY female patient and her father.

2+0 deletion carrier - a limitation of the genetic testing and counseling: A case report.

Background: gene mutations may all cause reduction or loss of 21-hydroxylase activity, leading to development of congenital adrenal hyperplasia (CAH) with different clinical phenotypes. For families with CAH children, genetic testing of the parents and genetic counseling are recommended to assess the risk of recurrence.

Case Summary: We report a case of CAH with a high suspicion before delivery.

Growth hormone alleviates oxidative stress and improves the IVF outcomes of poor ovarian responders: a randomized controlled trial.

Background: Oxidative stress (OS), defined as an imbalance between excessive reactive oxygen species (ROS) and/or reactive nitrogen species (RNS) production and antioxidant insufficiency, has been suggested to be involved in the pathogenesis of poor ovarian response (POR). Growth hormone (GH) can reduce OS in some cell types. This study investigated whether GH can improve OS and the in vitro fertilization and embryo transfer (IVF-ET) outcomes of poor ovarian responders.

[Prenatal diagnosis of a case of Pallister-Killian syndrome].

Objective: To carry out G-banded chromosomal karyotyping and chromosomal microarray analysis (CMA) for a fetus featuring multiple malformations.

Methods: The fetus was found to have increased nuchal thickness, generalized edema, asymmetric lower limbs, tetralogy of Fallot, nasal bone anomaly and cleft palate. Following amniocentesis, G-band karyotyping and CMA were carried out.

Whole exome sequencing identifies c.963T > A and c.492 + 1G > A mutations in responsible for autosomal recessive renal tubular dysgenesis.

Aim: This study was aimed to identify the potentially pathogenic gene variants that contribute to the etiology of the autosomal recessive renal tubular dysgenesis (RTD) in the aborted fetus.

Methods: Illumina infinium global screening array was used to analyze chromosome karyotype of the aborted fetus. The exomes of the aborted fetus and his parents were sequenced using the whole exome sequencing technology.

[Genetic analysis of a 46,XY female with sex reversal due to duplication of NR0B1 gene].

Objective: To explore the pathogenesis of a 46,XY female with sex reversal.

Methods: Peripheral blood lymphocytes of the patient were subjected to G-banding karyotype analysis. Sex chromosomes were analyzed with fluorescence in situ hybridization (FISH).

[Application of quantitative fluorescencet-PCR in the prenatal diagnosis of chromosomale aneuploidies].

Objective: To assess the accuracy of quantitative fluorescence PCR(QF-PCR) for the detection of fetal chromosomal aneuploidies and its values for prenatal diagnosis.

Methods: QF-PCR and chromosomal karyotyping were used to analyze 6066 amniotic fluid samples derived from 6034 pregnant women.

Results: Both QF-PCR and karyotyping analysis have detected 135 cases of fetal aneuploidies involving chromosomes 21, 18, 13, X, and Y.

[Analysis of genetics mechanism for the phenotypic diversity in a patient carrying a rare ring chromosome 9].

Objective: To explore the genetics mechanism for the phenotypic variability in a patient carrying a rare ring chromosome 9.

Methods: The karyotype of the patient was analyzed with cytogenetics method. Presence of sex chromosome was confirmed with fluorescence in situ hybridization.

[Detection of chromosomal aneuploidies in spontaneous abortion samples by fluorescence in situ hybridization].

Objective: To analyze 81 spontaneous abortion samples with fluorescence in situ hybridization (FISH).

Methods: Chromosome 13, 21, 16, 22, 18, X and Y probes were used to detect the samples.

Results: FISH was successful in 80 cases (98.

[Analysis of 89 amniotic samples using fluorescent in situ hybridization].

Objective: To assess the value of fluorescent in situ hybridization (FISH) for detecting common chromosome aneuploidies in interphase nuclei of amniotic fluid cells.

Methods: Eighty two uncultured amniotic fluid samples and supernatants from 2 successfully and 5 unsuccessfully cultured amniotic fluid samples were analyzed with FISH. Results from standard cytogenetic analysis of 79 uncultured amniotic fluid samples and 2 successfully cultured amniotic fluid samples were compared with FISH results.

Reference values of biochemical and hematological parameters for Guizhou minipigs.

The pig is not only an economically important livestock animal but is also a valuable model animal for biomedical research and xenotransplantation. Reference values for clinical biochemical and hematological parameters are required for accurate data interpretation while using a pig model. In this study, whole blood samples were collected from 54 healthy Chinese Guizhou minipigs.