Non-Invasive Prenatal Testing During Pregnancy

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Non-Invasive Prenatal Testing During
Pregnancy What Expecting Women Need to Know
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• What is non-invasive pregnancy testing?

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NIPT (non-invasive prenatal testing) Overview

• For couples who are expecting a baby,
  non-invasive testing during pregnancy will help
  you determine the chances of your baby being born
  with some common chromosomal conditions
• That includes screening for
• Down syndrome
• Edward syndrome
• Patau syndrome
• Turner Syndrome

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What is a chromosome?

• To better understand non-invasive pregnancy
  screening, it is helpful to understand what the
  test screens for.
• A chromosome is a structure that holds our genes,
  and our genes determine how our bodies develop
  and function, as well as our physical
  characteristics.
• We all have 46 chromosomes in each of our cells -
  23 of which are received from our mother and 23
  from our father. However in some instances,
  babies may have a duplicated, missing, or
  abnormal chromosome which could affect their
  physical and intellectual development

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Chromosomal Abnormalities

• A chromosomal abnormality can have a minor or
  major impact on your babys development.
• Types of chromosomal abnormalities
• Monosomy - when there is a missing chromosome
• Trisomy - when there is an extra chromosome
• Microdeletions - when a part of a chromosome is
  missing or defective

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Benefits of Non-Invasive Pregnancy Screening

• First step in combating high rate of chromosomal
  abnormalities in India
• Can be done early as 9th week of pregnancy
• No risks to mother or baby
• Over 99 accurate
• Differentiates between maternal and fetal DNA
• Results in 10-15 days
• Free genetic counselling available before,
  during after test

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Who should get screened with the NIPT?

• Every woman who is expecting can benefit from
  prenatal testing. However the test is especially
  recommended for the following cases

• Women who received abnormal ultrasound results
• Women older than 30
• Couples related genetically
• Couples with family history of genetic disorders
  
• Couples with child diagnosed with genetic
  disorder

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Screening vs Diagnostic Testing
While the NIPT can determine the chances your
baby will be born with a chromosomal condition,
you will need a diagnostic test to confirm the
results and provide a diagnosis.

• Screening Test
• Completed with a simple blood test
• Performed as early as 9th week
• No risk of miscarriage

• Diagnostic Test
• Amniocentesis or Chorionic Villus Sampling
• Generally performed between 10th and 20th weeks
  of pregnancy
• Small risk of miscarriage

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Non-Invasive Prenatal Screening Test
Pre-Implantation Genetic Screening/Diagnosis
Carrier Screening Test
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