Prenatal diagnosis of fetuses with Emanuel syndrome: Results of ultrasound examination and invasive genetic testing.

Objective: To investigate prenatal manifestations of Emanuel syndrome (ES) by retrospectively analyzing the results of prenatal diagnosis.

Methods: Thirteen fetuses were collected from five hospitals, of which six were confirmed with 47,der(22)t(11;22; ES) by karyotype and chromosomal microarray analysis (CMA). Seven were diagnosed with 46,t(11;22) balanced translocations by karyotype, including one de novo mosaic 46,XX,t(11;22).

Intrauterine phenotypic features associated with 16p11.2 recurrent microdeletions.

Objective: To investigate the detection rate of 16p11.2 recurrent microdeletions in fetuses with abnormal ultrasound findings and determine the common abnormal ultrasound findings in fetuses carrying the deletion.

Methods: This study reviewed 2262 consecutive fetuses with abnormal ultrasound findings who underwent prenatal chromosomal microarray analysis between October 2014 and December 2016.

An SNP panel for the analysis of paternally inherited alleles in maternal plasma using ion Torrent PGM.

Researchers have sought to develop an effective protocol for paternity analysis using cell-free DNA (cfDNA) in maternal plasma. The use of massively parallel sequencing (MPS) technology for SNP testing is attractive because of its high-throughput capacity and resolution to single-base precision. In this study, we designed a customized SNP panel for cfDNA sequencing that includes 720 short amplicons (< 140 bp) targeting SNPs on the autosome and Y chromosome.

[Prenatal genetic analysis of two fetuses with Miller-Dieker syndrome].

Objective: To perform molecular cytogenetic study on two fetuses with abnormal ultrasound findings and analyze their genotype-phenotype correlation.

Methods: G-banded karyotyping, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed on amniotic fluid cells from both fetuses and peripheral blood samples from their parents. Results of SNP array were analyzed with bioinformatics software.

Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature.

The current study presents the cases of two unrelated patients with similar clinical features, including craniofacial anomalies, developmental delay/intellectual disability and cardiac malformations, that are consistent with chromosome 10q26 deletion syndrome. High‑resolution single‑nucleotide polymorphism analysis revealed that 10q26 terminal deletions were present in these two patients. The locations and sizes of the 10q26 deletions in these two patients were compared with the locations and sizes of 10q26 deletions in 30 patients recorded in the DECIPHER database and 18 patients characterized in previous studies through chromosomal microarray analysis.

[Application of single nucleotide polymorphism-based array analysis for prenatal diagnosis of a fetus with de novo derivative chromosome].

Objective: To analyze a fetus with increased nuchal translucency and nuchal fold, and to assess the recurrence risk for her family and provide a basis for prenatal diagnosis.

Methods: G-banded karyotyping and single nucleotide polymorphism-based array (SNP-Array) analysis were used to analyze the fetus and her parents.

Results: SNP-Array analysis has detected a 41.

[Prenatal diagnosis of 1p36.3 microdeletion in a fetus with complex heart defect].

Objective: To analyze a fetus presenting with complex heart defect and assess the recurrence risk.

Methods: Conventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-based array (SNP-array) were used to analyze the fetus and his parents.

Results: SNP-array has detected a 6.

[Genetic analysis of a fetus with partial 1q monosomy and partial 17q trisomy].

Objective: To analyze a fetus with abnormal sonographic features and correlated its genotype with phenotype.

Methods: G-banding analysis, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed for the fetus. Karyotyping and FISH were also carried out for the parents.

Single nucleotide polymorphism-based microarray analysis for the diagnosis of hydatidiform moles.

In clinical diagnostics, single nucleotide polymorphism (SNP)-based microarray analysis enables the detection of copy number variations (CNVs), as well as copy number neutral regions, that are absent of heterozygosity throughout the genome. The aim of the present study was to evaluate the effectiveness and sensitivity of SNP‑based microarray analysis in the diagnosis of hydatidiform mole (HM). By using whole‑genome SNP microarray analysis, villous genotypes were detected, and the ploidy of villous tissue was determined to identify HMs.

[Prenatal genetic diagnosis for a fetus with atypical neurofibromatosis type 1 microdeletion].

Objective: To analyze the correlation between atypical neurofibromatosis type 1(NF1) microdeletion and fetal phenotype.

Methods: Fetal blood sampling was carried out for a woman bearing a fetus with talipes equinovarus. G-banded karyotyping and single nucleotide polymorphism array (SNP-array) were performed on the fetal blood sample.

[Misdiagnosis of mosaic tetrasomy 9p in a fetus by single nucleotide polymorphism-based array].

Objective: To explore the reason for discordant results of karyotyping and microarray analysis in a fetus with mosaic tetrasomy 9p.

Methods: Amniocentesis was carried out for a pregnant woman with advanced age for whom ultrasound scan has indicated fetal ventricular expansion, intrauterine growth retardation and persistent upper venous cavity. G-banded karyotyping and single nucleotide polymorphism-based arrays (SNP-array) analysis were performed at the same time.

[Chromosomal microarray analysis for lateral ventriculomegaly in fetus].

Objective: To investigate the relationship between fetal lateral ventriculomegaly and chromosomal microarray analysis (CMA) abnormalities.

Methods: Fifty fetuses with lateral ventriculomegaly detected by ultrasound and a normal karyotype were included. Forty four fetuses were classified as mild ventriculomegaly (MVM), in which the lateral ventricular atrium was 10-15 mm.

Smith‑Magenis syndrome in monozygotic twin fetuses presenting with discordant phenotypes and uteroplacental insufficiency.

Smith‑Magenis syndrome (SMS) is a rare condition with multiple congenital malformations caused by the haploinsufficiency of RAI1 (deletion or mutation of RAI1). However, the correlation between genotype and phenotype is not well understood. The present study describes the prenatal diagnosis of monozygotic twins with a 17p11.

[Prenatal diagnosis of five cases of monochorionic-diamniotic twins discordant for karyotype analysis].

OBJECTIVE To explore the mechanism and diagnostic method for monochorionic-diamniotic twins discordant for karyotype analysis. METHODS Dual amniocentesis was performed on five pairs of monochorionic-diamniotic twins, which all consisted of a normal twin and one with multiple malformations revealed by ultrasound. Karyotype analysis was performed on amniocytes derived from each of the twins.

Improved assay performance of single nucleotide polymorphism array over conventional karyotyping in analyzing products of conception.

Background: Conventional karyotyping has been a routine method to identify chromosome abnormalities in products of conception. However, this process is being transformed by single nucleotide polymorphism (SNP) array, which has advantages over karyotyping, including higher resolution and dispensing with cell culture. Therefore, the purpose of this study was to evaluate the advantage of high-resolution SNP array in identifying genetic aberrations in products of conception.

[Confirmation of a maternal cryptal balanced translocation through analysis of a fetus using microarray].

Objective: To analyze a fetus with heart defects and to assess the recurrence risk for her family.

Methods: Single nucleotide polymorphism-based arrays (SNP-Array) analysis using Affymetrix Genome Wide Human SNP CytoHD was performed to analyze the fetus and her parents. Karyotype analysis was also carried out.

When Cri du chat syndrome meets Edwards syndrome.

It has been well established that the 5p deletion causes Cri du chat syndrome, typically characterized by a cat‑like cry, and that duplication of 18q causes Edwards syndrome; the two are rare genetic abnormalities that separately lead to physical and mental impairments. However, the severity of the clinicopathological characteristics that arise when these two aberrations occur in one patient is unknown. Here, the first case in our knowledge of a single patient (a two‑year‑old female) with 5p partial monosomy and 18q partial trisomy is described.

Prader-Willi syndrome with a long-contiguous stretch of homozygosity not covering the critical region.

Prader-Willi syndrome is a common and complex disorder affecting multiple systems. Its main manifestations are infantile hypotonia with a poor sucking reflex, a characteristic facial appearance, mild mental retardation, hypogonadism and early-onset obesity. Prader-Willi syndrome is due to the absence of paternally expressed imprinted genes at 15q11.

[Cytogenetic and molecular study of a patient with severe oligozoospermia and asthenozoospermia].

Objective: To explore genetic etiologies of a patient with severe oligozoospermia and asthenozoospermia.

Methods: G-banded karyotyping and fluorescence in situ hybridization (FISH) were used to characterize the origin and structure of the abnormal chromosome discovered in this patient. Multiplex polymerase chain reaction (PCR) was used to detect microdeletion of azoospermia factor (AZF).

[Spectral karyotyping of seven prenatally detected marker chromosomes and complex chromosome aberrations].

Objective: To perform spectral karyotyping (SKY), fluorescence in situ hybridization (FISH) and conventional karyotyping on prenatally detected marker chromosomes and complex chromosomal aberrations.

Methods: Five marker chromosomes and 2 complex chromosome aberrations diagnosed by G banding were collected. SKY was performed to verify the composition of marker chromosomes.

[Combined use of molecular cytogenetic techniques to detect a small chromosomal translocation].

Objective: Comprehensive use of molecular cytogenetic techniques for the detection of 1 case of small chromosome translocation.

Methods: Following conventional chromosome preparation, G-banding karyotype analysis, spectral karyotyping (SKY), whole chromosome painting, two-color fluorescence in situ hybridization (FISH) and subtelomeric probe FISH were performed.

Results: G-banded karyotype was 46, XX, ?(22q11.