Tag Archives: Edwards syndrome

Overview

Minagene's NIPT Advanced utilizes massively parallel next-generation sequencing and advanced bioinformatics to perform comprehensive non-invasive prenatal testing via analysis of cell-free fetal-derived circulating cell-free DNA from maternal peripheral blood. Beyond conventional NIPT, it facilitates multi-dimensional genomic profiling
to enable detection of both common and rare autosomal aneuploidies, unbalanced chromosomal rearrangements, and pathogenic copy number variants.

Methodology

Unique molecular identifier-based

Unique molecular identifier-based sequencing of circulating cfDNA at ≥30X depth of coverage allows for whole-genome haplotype construction and improved variant resolution. Proprietary algorithms leveraging Bayesian likelihood ratios evaluated against comprehensive genome-wide genotype and phenotype databases achieve precise risk estimation for aneuploidies encompassing all autosomes, sex chromosomes, mitochondrial disorders, and pathogenic CNVs ≥3Mb.

Key Highlights of Minagene's Advanced NIPT

Comprehensive Fetal Genome Analysis:

• Screens for rare autosomal aneuploidies undetected by standard NIPT


• Identifies incidental findings such as pathogenic homozygous/hemizygous CNVs


• Addresses scenarios requiring assessment of uniparental disomy or triallelic inheritance


• Provides results within a short period accompanied by genetic counseling from board-certified specialists


• Presents a safe alternative to invasive testing when abnormal ultrasound findings or elevated risk profiles warrant advanced prenatal diagnosis

When to consider Minagene’s Advanced NIPT

When to consider Minagene’s Advanced NIPT

Minagene’s NIPT Advanced Test is indicated for high-risk patients such as those with positive family histories, advanced maternal age, abnormal ultrasonography findings, history of recurrent pregnancy loss, or carrier status of translocations. It represents a definitive frontline examination when definitive diagnosis of sizable fetal genomic imbalances is imperative.

Overview

Minagene's NIPT uses advanced DNA sequencing technology to screen
for common fetal aneuploidies from a simple maternal blood draw.
By analyzing cell-free DNA from the placenta in maternal plasma,
it can detect the additional or missing chromosomes that cause
conditions like Down syndrome, Edwards syndrome,
and Patau syndrome.

 

Methodology

Cell-free DNA (cfDNA)

Cell-free DNA (cfDNA), derived from both the fetus and the mother,can
be detected in maternal blood and is a valuable resource for physicians.
On average, approximately 10% of the cfDNA present in maternal blood
originates from the fetus. Next Generation Sequencing (NGS), a highly
sensitive technique utilizing millions of sequence reads per sample,
enables the identification and quantification of aneuploidies within this
complex mixture. By analyzing quantitative disparities in cfDNA within
maternal blood, physicians can differentiate between fetuses affected by
trisomy 21 (and other fetal aneuploidies) and those that are unaffected.
Minagene’s NIPT introduces a whole-genome sequencing (WGS) approach
to non-invasive prenatal testing (NIPT). Through sequencing the complete
fetal genome, this method offers physicians a comprehensive assessment
of the chromosomes. Leveraging an advanced counting technique and
state-of-the-art algorithms, Claria NIPT enables the determination of
aneuploidy risk by comparing the ratio of chromosomes of interest to
multiple reference chromosomes. With this cutting-edge technology,
physicians can enhance their ability to provide accurate and reliable
diagnostic information to expectant parents.

Key Highlights of
Minagene’s NIPT

1. Comprehensive Fetal Genome Analysis:

Unlike tests that focus only on specific trisomies, Minagene’s NIPT
screens the entire fetal genome* for a more comprehensive evaluation.

2. Exceptional Test Performance:

Achieves sensitivity and specificity of over 99.9% for Trisomy 18 ,21, and 13.
Maintains a call rate of over 99%,ensuring reliable and informative
results.

3. Minimal Test Failure Rates:

Compared to targeted approaches,Minagene’s NIPT, based on
whole-genome sequencing (WGS),demonstrates significantly lower test
failure rates.
WGS assays provide extensive datacoverage across the entire diploid
genome, reducing assay- and sample-specific biases through
analytical referencing.
This normalization process enhances sensitivity, enabling accurate
aneuploidy detection even in cases with low fetal fraction, which are
typically rejected in targeted approaches due to quality control
concerns.

NIPT

Overview

Minagene’s NIPT uses advanced DNA sequencing technology to screen for common fetal aneuploidies from a simple maternal blood draw.  By analyzing cell-free DNA from the placenta in maternal plasma, it can detect the additional or missing chromosomes that cause  conditions like Down syndrome, Edwards syndrome, and Patau syndrome.

Methodology

Cell-free DNA (cfDNA), derived from both the fetus and the mother,can  be detected in maternal blood and is a valuable resource for physicians.  On average, approximately 10% of the cfDNA present in maternal blood originates from the fetus. Next Generation Sequencing (NGS), a highly sensitive technique utilizing millions of sequence reads per sample,  enables the identification and quantification of aneuploidies within this  complex mixture. By analyzing quantitative disparities in cfDNA within  maternal blood, physicians can differentiate between fetuses affected by trisomy 21 (and other fetal aneuploidies) and those that are unaffected. Minagene’s NIPT introduces a whole-genome sequencing (WGS) approach to non-invasive prenatal testing (NIPT). Through sequencing the complete fetal genome, this method offers physicians a comprehensive assessment of the chromosomes. Leveraging an advanced counting technique and  state-of-the-art algorithms, Claria NIPT enables the determination of  aneuploidy risk by comparing the ratio of chromosomes of interest to  multiple reference chromosomes. With this cutting-edge technology, physicians can enhance their ability to provide accurate and reliable diagnostic information to expectant parents.

Key Highlights of Minagene’s NIPT

• 
  

  Comprehensive fetal genome analysis:Unlike tests that focus only on specific trisomies, Minagene’s NIPT screens the entire fetal genome* for a more comprehensive evaluation.

  
  


• 
  

  Exceptional test performance:

  
  

  Achieves sensitivity and specificity of over 99.9% for Trisomy 18 ,21, and 13. Maintains a call rate of over 99%,ensuring reliable and informative results.

  
  


• 
  

  Minimal test failure rates:

  
  

  Compared to targeted approaches,Minagene’s NIPT, based on whole-genome sequencing (WGS),demonstrates significantly lower test failure rates. WGS assays provide extensive datacoverage across the entire diploid genome, reducing assay- and sample specific biases through analytical referencing. This normalization process enhances sensitivity, enabling accurate aneuploidy detection even in cases with low fetal fraction, which are typically rejected in targeted approaches due to quality control concerns.

  
  

Diseases

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  Down Syndrome

  
  


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  Edwards syndrome

  
  


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  Patau syndrome

  
  


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  Turner syndrome

  
  


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  Cri-du-chat syndrome

  
  


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  Klinefelter Syndrome