Becoming pregnant can be one of the happiest moments in a woman’s life, but it can also be an overwhelming and stressful time.

From the moment you find out you are pregnant, there are several decisions that you have to make, including whether to have prenatal screenings.

Prenatal screening, whether invasive or non-invasive, is important because it can detect genetic disorders that may affect your baby’s health.

Non-invasive prenatal screening (NIPS) is a relatively new screening option that involves analyzing the cell-free DNA (cfDNA) from the placenta that is present in the mother’s blood. This type of screening is more accurate than traditional screening tests and is less invasive than invasive procedures like amniocentesis.

Who should consider NIPS?

Non-invasive prenatal screening is an option for all pregnant women, but it is particularly recommended for women who:.

Have a family history of genetic disorders
Are over 35 years old
Have had a previous pregnancy with chromosomal abnormalities

If you fall into any of these categories, you may want to talk to your OB-GYN or a genetic counselor about whether NIPS is right for you.

What disorders can NIPS detect?

Non-invasive prenatal screening can detect a wide range of chromosomal abnormalities, including:.

Down syndrome (trisomy 21)
Edwards syndrome (trisomy 18)
Patau syndrome (trisomy 13)
Turner syndrome (monosomy X)
Klinefelter syndrome (XXY)
Jacobs syndrome (XYY)

It is important to note, however, that NIPS does not detect all genetic disorders, and it is not a diagnostic test.

If your NIPS results show a high risk for a chromosomal abnormality, your doctor may recommend follow-up testing, such as amniocentesis or chorionic villus sampling (CVS).

How accurate is NIPS?

Non-invasive prenatal screening is highly accurate, with a detection rate of over 99% for Down syndrome and 98% for Edwards syndrome and Patau syndrome. However, it is not 100% accurate, and false positives and false negatives can occur.

A false positive result means that the NIPS test indicates a high risk for a chromosomal abnormality when the fetus is actually normal. False positives can occur in about 0.1% to 0.3% of cases, depending on the laboratory that performs the test.

A false negative result means that the NIPS test indicates a low risk for a chromosomal abnormality when the fetus is actually affected.

False negatives can occur in about 1% to 2% of cases, usually due to a low concentration of fetal DNA in the mother’s blood.

If you receive a positive NIPS result, your doctor may recommend follow-up testing to confirm the results.

If you receive a negative NIPS result but are still concerned about the possibility of chromosomal abnormalities, your doctor may recommend further testing as well.

What are the benefits of NIPS?

Non-invasive prenatal screening has several benefits, including:.

Reduced risk of miscarriage compared to invasive procedures
Increased accuracy compared to traditional screening tests
Can give parents more time to prepare for the birth of a child with a genetic disorder
Can be performed as early as 10 weeks of pregnancy

What are the limitations of NIPS?

Non-invasive prenatal screening also has some limitations, including:.

It is a screening test, not a diagnostic test
It cannot detect all genetic disorders
It can result in false positives and false negatives
It can be expensive and may not be covered by insurance
It may cause anxiety for parents waiting for results

The bottom line

Non-invasive prenatal screening is a new and exciting option for pregnant women. If you are considering prenatal screening, it is important to talk to your doctor or a genetic counselor about your options and whether NIPS is right for you.

While NIPS can provide more accurate information about your baby’s health, it is important to remember that it is a screening test and not a diagnostic test.