After receiving confirmation of the pregnancy, the parents-to-be can be overwhelmed with thoughts, fears, and plans concerning the new baby. So many different people and sources inundate the parents with advice and opinions. Ultimately, prenatal care is the primary concern since it is critical for the health of both the mother and her unborn child. Unlike some prenatal testing methods, non-invasive prenatal testing (NIPT) options can provide valuable information about a developing fetus without causing harm to either mother or baby. NIPT may identify fetal abnormalities, so this decision is a personal one for the parents.
Unlike other pregnancy posts, for this potentially sensitive subject, I want to discuss the topic in greater detail first, and then explain what we have decided to do and why.
What is NIPT?
Non-invasive prenatal testing is a genetic testing procedure that analyzes cell-free fetal DNA (cffDNA) present in the mother’s blood. During pregnancy, a small fraction of the total DNA present in the mother’s bloodstream is cffDNA derived from the placenta.
Rather than an invasive sample being removed from the area around the fetus, a simple blood sample is taken from the mother. Genetic testing is performed on the cffDNA in the blood sample to identify chromosomal abnormalities, such as Down syndrome, Turner syndrome, or Edwards syndrome. Also, based on the results, the health care provider can tell the parents the genetic gender of the fetus, if the parents wish to know. Other than the needle prick to draw a blood sample, neither the mother nor the fetus suffers any pain or harm.
NIPT is typically performed during the first trimester of pregnancy. The OBGYN may offer NIPT as early as 10 weeks within the pregnancy. The test results are usually available within a few days, depending on the laboratory performing the testing.
NIPT offers several benefits over other prenatal screening methods. It carries no risk of miscarriage or other complications associated with invasive screening methods, such as amniocentesis or chorionic villus sampling (CVS). NIPT also detects a broader range of genetics disorders than some prenatal screening methods. Since NIPT can be performed earlier in pregnancy than traditional screening methods, women have more time to make informed decisions about their pregnancy.
Who should consider NIPT?
A higher prevalence of genetic mutations occurs in certain demographic groups. A 2013 review on NIPT notes that high-risk includes
- Women of advanced maternal age (35 years or older),
- Family history of trisomy (3 copies of a single chromosome), or
- A previous pregnancy with chromosomal abnormality.
Additionally, certain populations have higher prevalence of specific genetic mutations that can cause genetic disorders. The OBGYN may discuss specific NIPT for genetic mutations based on the parent’s ethnicity or family history. For example, the Ashkenazi Jewish population has a higher prevalence of certain genetic disorders, including Tay-Sachs disease, Canavan disease, and Niemann-Pick disease.
The American College of Obstetricians & Gynecologists (ACOG) recommends that all patients, regardless of risk status, be offered NIPT. ACOG notes that cffDNA testing is the most sensitive and specific test for fetal aneuploidies (an abnormal number of chromosomes); however, this testing is not equivalent to diagnostic testing since it is possible to have false-positive or false-negative results. Patients need to discuss the results with their physician. A positive requires potential follow-up testing. A negative test indicates a high likelihood that the fetus does not have any fetal aneuploidies, but it is not a 100% guarantee.
As of 2023, according to ACOG, almost 100% of women considered high-risk are covered by either commercial health insurance or Medicaid in the United States. Unfortunately, less than 80% of women are covered, regardless of risk status (see Infographic below). Ideally, coverage of NIPT services should not preclude a woman from undergoing testing.
Ethical considerations of NIPT
Before undergoing NIPT, the health care provider should discuss the potential ethical considerations with such testing. This goes beyond deciding whether to know the gender of the baby. Some points to consider include
- What will the parents do with the knowledge?
- If the test results are positive,
- what support will the family need?
- what additional tests, if any, are necessary?
- what options are available?
- If the test results are negative, what do they really indicate?
What was our decision regarding NIPT?
This was not a decision made without consideration and discussion. For each of our children, we decided to have NIPT performed. First, we are considered high risk. (In fact, we check many boxes…age, ethnicity, and so on.) My wife and I discussed this at great length, especially with our first pregnancy.
Why did we decide to have NIPT?
For us, personally, it was about preparation. We wanted to know so that we could have the support available ahead of time should we need it. If our child had a certain condition, we wanted to prepare our family. Certain accommodations may be needed to help our child and our family. We could also have the additional emotional and spiritual support available ahead of time as well. This decision may not be right for others, but we feel it was right for our family.
***[Note: This post was originally written some time early in the pregnancy experience before we were telling people and saved for a future publication. For more on our pregnancy experience, check out my other pregnancy-related posts.]
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