In the early stages of pregnancy, soon-to-be parents are often filled with joy and also some worry. Common concerns range from paying for childcare to 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
The good news is that 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 Non-Invasive Prenatal Testing, 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 chromosomal 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 percent 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 recently updated their guidelines, reflecting recent evidence that strongly suggests that NIPT can replace conventional screening for common chromosome abnormalities for all pregnant women, regardless of their age. 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 updated their medical policies to include NIPT for all women. Since insurance companies follow medical guidelines very closely, so it’s likely that they 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. 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.
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. 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.
Children with 22q may have:
- mild-to-life-threatening heart defects
- abnormal formation/movement of the roof of the mouth (palate) which can lead to serious challenges with feeding
- At least half of those with 22q will develop a low calcium level, sometimes soon after birth, which can lead to seizures
- About 80 percent 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 percent) will receive a high-risk result. If a pregnancy is found to be at 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 percent 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.
For more information on NIPTs, please visit www.natera.com/NIPT-answers.
Jill Hechtman, MD is the Medical Director of Tampa Obstetrics and the Chairman of Obstetrics and Gynecology at St. Joseph’s Women’s Hospital in Tampa. She is the past Chairman of Obstetrics and Gynecology at Brandon Regional Hospital. She is a frequent face in local media as “Dr. Jill” and currently is the obstetrics and gynecology expert for “Daytime,” a nationally syndicated talk show.