Karyotyping

Genomic insights for prenatal screening - The advantages of low-pass genome sequencing

A new study validates Low-Pass Genome Sequencing (LP GS) as a robust and cost-effective alternative to Chromosomal Microarray Analysis (CMA) for prenatal diagnosis. LP GS detects six additional Copy Number Variations (CNVs) in cases with negative CMA results, highlighting the importance of sequencing depth in its detection sensitivity.

SourceBGI Genomics·JournalJournal of Medical Genetics·TypeData/statistical analysis·DateOct 26, 2023

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Optimal genome mapping offers high-resolution method to better see, then target cancer-causing gene variants

A new study standardizes the use of optical genome mapping (OGM) for patients with blood cancers, demonstrating its potential as a frontline test for diagnosing hematologic malignancies. OGM outperforms existing tests in detecting cancer-causing gene variants and identifying additional information that can improve patient outcomes.

SourceMedical College of Georgia at Augusta University·JournalJournal of Molecular Diagnostics·DateJan 17, 2023

NIH-funded researchers develop same-day test to detect abnormal fetal chromosomes

Scientists developed a same-day test to identify abnormal fetal chromosomes using prenatal tests and tissue from miscarriage or biopsies. The STORK test shows promise in diagnosing genetic causes of miscarriage and streamlining IVF, potentially saving time and cost.

SourceNIH/Eunice Kennedy Shriver National Institute of Child Health and Human Development·JournalNew England Journal of Medicine·DateAug 17, 2022

Detecting fetal chromosomal defects without risk

A new benchtop semiconductor sequencing procedure and bioinformatics software tools can detect multiple types of chromosomal abnormalities with high sensitivity and specificity. The noninvasive method uses cell-free fetal DNA and is faster, cheaper, and safer than current procedures.

SourceUniversity of California - San Diego·JournalProceedings of the National Academy of Sciences·DateMay 6, 2014

New prenatal test, chromosomal microarray, proposed as standard of care

A new genetic test using microarray analysis has been shown to detect clinically relevant information more effectively than the current standard method of prenatal testing. Microarray also identified additional abnormalities not detected by karyotyping in cases with advanced maternal age or positive screening results.

SourceColumbia University Irving Medical Center·JournalNew England Journal of Medicine·DateDec 5, 2012

New prenatal genetic test is much more powerful at detecting fetal abnormalities

A nationwide study has found that chromosomal microarray testing detects additional genetic abnormalities in about 1 in 70 normal karyotype samples and 6% of cases with structural abnormalities. The new test may soon replace standard karyotyping for prenatal testing, providing more information on potential disorders.

SourceNew York- Presbyterian Hospital/Columbia University Medical Center·JournalAmerican Journal of Obstetrics and Gynecology·DateFeb 9, 2012

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