A Novel External Quality Assessment of Chromosomal Karyotype Analysis Based on Chimera Image Assembly.

Objective: This study aimed to establish a new external quality assessment (EQA) of chromosomal karyotype analysis.

Methods: Chimeric assembly A1 was established by collecting chimeric chromosome images prepared artificially from chromosomally abnormal amniocytes remaining after prenatal diagnosis. Chimeric assembly B1 and nonchimeric assembly C1 were constructed through the collection of chimeric and nonchimeric chromosome images from prenatal diagnosis, respectively.

A Quality Assurance Scheme for Prenatal Detection of Aneuploidy Based on Developing Chimeric Quality-Control Cells.

Background: The shortage of quality-control materials caused by non-renewable utilization of rare disease samples is the key factor to limit the quality control of prenatal molecular diagnosis. This study aimed to prepare aneuploid amniocyte lines for the development of quality control cells for fluorescence in situ hybridization (FISH)-mediated detection of aneuploidy.

Methods: Recombinant SV40LTag-pcDNA3.

A novel use for Levey-Jennings charts in prenatal molecular diagnosis.

Background: The goal of this study was to determine whether Levey-Jennings charts, which are widely used in clinical laboratories, can be used to create standardized internal quality controls (IQCs) for prenatal molecular diagnosis.

Methods: Aneuploid amniocyte lines with trisomy 13, 21, and 18, and 47,XXY were established by transfection with SV40LTag-pcDNA3.1(-)and combined at different ratios to generate aneuploidy chimeric quality-control cell mixtures A to H.

[Establishment of cell lines for quality control of prenatal genetic diagnosis by gene transfection].

Objective: To establish a cell lines for quality control of prenatal genetic diagnosis.

Methods: The recombined SV40LTag-pcDNA3.1(-) vector was constructed and transfected by lipidosome into human amniotic fluid cells with common aneuploidy.

Desirable quality-control materials for the establishment of qualified external quality assessment on prenatal diagnosis of chromosomal aneuploidies.

Objective: To prepare desirable quality-control materials for the establishement of qualified external quality assessment on fluorescence in situ hybridization (FISH)-detected prenatal diagnosis of chromosomal aneuploidies.

Methods: Four types of amniotic fluid cell suspensions (13-trisomy, 18-trisomy, 21-trisomy and 47,XXY) were mixed together by ratio to produce mosaicism with the percentages of each aneuploidy as 10%, 20%, 30% and 40%, respectively. After being stored in liquid nitrogen of -196 °C for six months, randomly selected samples were incubated in 37 °C water, followed by cultivation, hypo-osmosis and fixation.

An external quality assessment scheme for prenatal detection of rare chromosomal abnormalities.

Objective: To improve the accuracy of prenatal cytogenetic diagnosis by establishing an external quality assessment (EQA) scheme for rare, or subtle, structural chromosomal abnormalities.

Method: Typical metaphase images of rare chromosomal abnormalities along with an anonymized clinical history were sent to 35 prenatal diagnosis laboratories. The laboratories were required to provide independent reports using current nomenclature.