Pregnancy News: Non-Invasive Prenatal Testing Endorsed for Women of All Ages

In the early stages of pregnancy, soon-to-be parents are often filled with joy and worry in equal measure. Common concerns include paying for childcare and more serious questions about the baby's development. Nine months is a long time to wonder if the baby you're carrying is healthy.

Major Advances in Prenatal Testing  Fortunately, prenatal medicine has advanced a great deal in just the past few years. As early as nine weeks into gestation, parents can opt for a noninvasive blood test that reveals their baby's risk for common genetic conditions, such as Down syndrome.

This form of testing is called noninvasive prenatal testing (NIPT), and it requires only a simple blood draw from the mother's arm. Some of the baby's DNA is already circulating in the mother's bloodstream, and this DNA can be used to evaluate the baby's risk for certain chromosome problems. Previously, this type of testing was done using some combination of ultrasound and pregnancy hormone levels from the mother's blood. NIPT is not 100% accurate, but  it  is a significant improvement over previous types of tests with far fewer false positives.

Changing Guidelines, Increasing Insurance Coverage  In addition to advances in testing technology, there's more good news for parents seeking reassurance about the health of their pregnancy. Changing medical guidelines suggest more insurance companies will cover NIPT for all women, not just women older than 35 years of age. Historically, insurance companies only covered NIPT for women who were considered "high risk," including those who were over 35 or who had had prior pregnancies with genetic conditions.

The American College of Medical Genetics and Genomics (ACMG) recently updated their guidelines to support the use of NIPTs as the optimal initial screening test for all pregnant women, regardless of their age or other risk factors. The ACMG recommends informing pregnant women that these tests are "the most sensitive screening option" for some of the most common genetic conditions, including Down syndrome (trisomy 21), Patau syndrome (trisomy 13), and Edwards syndrome (trisomy 18).

Currently, a majority of insurers cover NIPT for women over 35 but a growing number have also updated their medical policy to include NIPT for all women. Since insurance companies follow medical guidelines very closely, it's likely that more insurance companies will add coverage in the near future.

Genetic Conditions Are More Common than You Think  NIPT screens for common genetic conditions while the baby is still in the womb. Many of us know someone who has a child with a genetic condition. Down syndrome is perhaps the most well-known condition. Approximately 1 in 700 babies is born with Down syndrome, and those odds increase as mothers get older.

What many people don't know is how Down syndrome is caused. Down syndrome is usually not inherited or passed down from the mother or the father. At about the same time as the baby is conceived, an error in cell division causes an extra copy of chromosome 21 to be present in the baby. Rarely, Down syndrome is caused because one of the parents' genetic information is packaged in a different way, also called a translocation. If you have had a prior child with Down syndrome, have had several miscarriages, or there is a family history of Down syndrome, talk to your healthcare provider about whether it would be helpful to meet with a genetic counselor.

Deletion 22q11.2 Syndrome: A common genetic abnormality you may never have heard of  Approximately 1 in 2,000 babies is born with 22q11.2 deletion syndrome. This condition is more common than two other chromosome abnormalities, Trisomy 18/Edwards syndrome and Trisomy 13/Patau syndrome. Although not well known by the general public (or many healthcare providers), this condition happens, usually by chance, regardless of the age of the mother. A microdeletion is a small missing piece of one of the chromosomes, 22q means that the missing piece is on the long arm of chromosome 22.

Children with 22q may have mild-to-life-threatening heart defects and abnormal formation/movement of the roof of the mouth (palate) which can lead to serious challenges with feeding. At least half of them will develop a low calcium level, sometimes soon after birth, which can lead to seizures. About 80% of affected children have learning differences, which may be mild, moderate, or rarely, severe. Other health challenges can include abnormal formation of the renal system, such as a missing kidney, and sometimes the immune system does not fight infection as successfully as other children's immune systems. Autism and schizophrenia are also diagnosed at higher rates than in the general population.

Natera's Panorama® NIPT screens for 22Q, Down syndrome and several other common chromosome conditions.

Prepare for your Baby's Future  Most parents who opt for NIPT are relieved to receive a low-risk result. A low-risk result indicates that there is a very small chance that the baby is affected by the chromosome conditions that were tested.

A high-risk result indicates a higher chance that the baby has one of the chromosome conditions that were tested.  Less than 1 in 100 women (or 1%) will receive a high-risk result. If a pregnancy is found to be an increased risk, the healthcare provider will usually refer the couple to meet with a genetic counselor and/or high-risk pregnancy specialist to discuss the options for further testing, including tests like amniocentesis. These test are more than 99.9% accurate but do have a small chance to cause a miscarriage.

There are many advantages to early identification of a chromosome condition. After additional testing to confirm the result, families can begin to learn about the condition. Families may choose to deliver at a hospital that has pediatric specialists that are able to care for a newborn with a genetic condition, or to find a specialist who can improve their child's long-term outcome.

Want to Learn More About NIPT?  For more information on NIPTs, please go to this website.