Further Tests in Pregnancy

In addition, depending on individual cases, the doctor might recommend more tests. Like, amniocentesis / chorionic villus sampling ( CVS ) and NIPT helps diagnose chromosomal or genetic disorders.

Non-Invasive (NIPT) Prenatal Testing.

What is Non-Invasive Prenatal Testing?

NIPT or Non-Invasive Prenatal Screening (PINS) is a method that helps determine the risk that the baby will born with genetic abnormalities.

When is NIPT offered?

It is offered as an alternative to invasive prenatal tests when the report of FTS or quadruple tests (done to diagnose Down syndrome) comes back with the positive result.

How is NIPT done?

A sample of blood is taken from your arm. It is then sent to the laboratory in a special tube for screening. The test analyzes the fragments of DNA circulating in your blood, which helps you look for chromosomal disorders that are caused due to an extra or missing copy of a chromosome.

When to get NIPT done?

It is done after 10 weeks of pregnancy. But before NIPT, you must first get the ultrasound scan done to find out how long you've been pregnant, how many babies are there in the womb, and whether or not there is any fetal abnormality.

How accurate is NIPT result?

It is 99 percent accurate for Downs syndrome . However, even when the results are abnormal for Down syndrome, to reconfirm, you would have choice to go for invasive tests like Amniocentesis or CVS.

How long do I have to wait to get results from NIPT?

Usually within 2 weeks.

What are the possible results of NIPT?

There are three possible results:

  • Negative screening- Your baby is safe and is highly unlikely to have any genetic abnormality, like Down syndrome and Edwards syndrome.
  • Positive Screening- Your baby is affected. She/he has Down syndrome, Patau syndrome or Edwards syndrome. You would be recommended for invasive screening to confirm this result.
  • Failed result- The are a few times when the NIPT will return with "unclear" or inconclusive result. This happen in less than 5% cases due to inadequate load of fetal DNA in maternal blood..

How safe is NIPT?

NIPT is relatively safe with no significant risk. It's like any other blood test. The spot on your arm from where the blood sample was taken, there might be a minor bruise. That's it!

Is there any con of NIPT?

It's relatively costly. However, with technological advancements in medicine, with the passing days, this cost is expected to come down over the course.

Invasive (Amniocentesis / CVS) Prenatal Testing

Amniocentesis is a medical procedure in which a needle is passed through the mother's abdomen and a small amount of amniotic fluid, that surrounds the baby in the womb, is removed.

CVS or Chorionic Villus Sampling is a medical procedure in which a needle is passed through the mother's abdomen to remove a small amount of fetal tissues from the placenta in the womb.

These invasive prenatal tests are done in pregnant women who have got high-risk screening result from different screening tests. They are also needed for pregnant women who have advanced maternal age, have a family history of genetic disorders, have suffered complications in previous pregnancies, and whose fetal structure is abnormal.

The tests must be performed by an expert team because, since it involves inserting a needle through the wall of the womb, it has a 1 percent chance of miscarriage. In addition, while these tests aren’t exactly painful but rather uncomfortable, the right team of medical professionals can further minimize this discomfort feeling.

Amniocentesis and CVS will help you accurately confirm if the baby has disorders that these tests were looking for. The result will be in definite 'yes' and 'no. In case, if the report comes with 'abnormal' result, your doctor will explain it to you further, outlining the options you now have and what you should do next. The options may include terminating the pregnancy or going ahead with the delivery and planning for the aftercare of the baby.

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