NIPT

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The PathCare Chrom3NIPT™ prenatal screen:

A new advanced non-invasive prenatal screening solution using the latest developments in DNA technology to detect placental DNA in maternal blood.
Chrom3NIPT™ offers fetal chromosome analysis to estimate the risk of a fetus having Down’s syndrome and other genetic disorders.

Enabling pregnant women and their families fast, safe and reliable results and reducing the need for invasive tests and the associated risks, stress and anxiety.

NIPT FAQs

 

PathCare Chrom3NIPT™ utilises the sequencing and bioinformatics expertise of Yourgene and the clinical understanding, IVD and quality standards from Premaitha Health plc.

  • Fully automated analysis with individual patient reports
  • Flexible and scalable NGS laboratory workflow with full validation support
  • Offer clinicians everything from aneuploidies to microdeletions
  • 3 day turnaround time
  • Accurate with >99% detection of trisomy conditions
  • High quality – powered by Premaitha a leading provider of NIPT

Chrom3NIPT® – the MPS (Massively Parallel Sequencing) based test with lowest test failure rate amongst all NIPT technologies in the market.

Studying the fetal DNA in NIPT

The peripheral venous blood of the pregnant woman is taken as the sequencing sample,

which is used to sequence the Cell-free fetal DNA (cffDNA) in the blood and analyze

the structure of the fetal chromosome. In this way, it can further confirm whether

the baby suffers from an anomalous chromosome related disease, such as

Down syndrome, Edwards syndrome and Patau syndrome.

The Chrom3NIPT test 4 steps

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What does Chrom3NIPT screen for?

  Autosomal aneuploidies

The Chrom3NIPT™ prenatal screen estimates the risk of a fetus having Down’s syndrome (trisomy 21), Edward’s syndrome (trisomy 18) and Patau’s syndrome (Trisomy 13).   The accuracy is >99% for the detection of fetal chromosome aneuploidy. In addition, a genome-wide aneuploidy detection analysis on the remaining chromosomes is carried out   and reported.

  Sex chromosome aneuploidies

Upon request, the following sex chromosome aneuploidies can be screened for:

  • Monosomy X – Turner syndrome
  • XXX – Triple X syndrome
  • XXY – Kleinfelter syndrome
  • XYY – Jacob’s syndrome

  Microdeletions

Microdeletion syndrome is caused by the absence of a small portion of genetic material in the chromosome. They can vary greatly in severity, with the symptoms of   microdeletions ranging from minimal developmental delays to sever anomalies e.g. cardiac defects, neurological malformations etc. Upon request, the following rare   microdeletions can be screened for:

DiGeorge syndrome, 1p36 deletion syndrome, Prader-Willi syndrome, Angelman syndrome, Cri-du-Chat syndrome, Wolf-Hirschhorn syndrome.

  Fetal sex determination

As per the PCPNDT guidelines, the fetal sex is not and will not be determined at PathCare.

NIPT Popularization: High accuracy, false positive

NIPT applies NGS technology to test whether all fetal chromosomes are normal. In December 2012, the American College of Obstetricians and Gynecologists (ACOG) Committee publicly announced that “All pregnant women should go through the prenatal test to evaluate the fetal chromosomes. Those aged over 35 or with fetal chromosome anomalies may take the Non-Invasive Prenatal Test (NIPT), which is an optional item for prenatal testing.” Now NIPT is popularized and gradually takes the place of traditional Down syndrome screening.
Disease Detection of NIPT

Down syndrome (Trisomy 21)
Down syndrome is the most common chromosome anomaly that occurs among newborn babies, with an occurrence rate of 1/600-1/1000. The patients show symptoms of low intelligence level at birth, slow physical development, and are often deformed.

Edwards syndrome (Trisomy 18)
The occurrence rate is about 1/3000. It may cause congenital heart disease, and may deform the appearance and many organs severely. 40% survive up to 1 month, 5% survive up to 1 year old, and 1% survive up to 10 years old.

Patau syndrome (Trisomy 13)
The occurrence rate is about 1/5000, which is the most serious trisomy among the newborn babies. Over 95% of the babies with such chromosome anomaly die in the uterus. More than half of the patients have holoprosencephaly, which is often accompanied with congenital heart disease. Most patients die within 4~6 months after birth.

(Data Source: Wikipedia)