“At around twelve weeks, we’ll do a blood test to screen for any chromosomal abnormalities, and you’ll be able to find out the sex if you choose to do so.” This is now a routine statement, a version of which can be heard around the world in consultations between pregnant women and their obstetric care providers. When a woman goes to the clinic for an early pregnancy check-up, she will most likely be offered noninvasive prenatal testing (NIPT), sometimes called cell-free DNA (cfDNA) screening.
For many women, the opportunity to find out the sex of their preborn child earlier than the ultrasound anatomy scan is reason enough to have the screening. But what exactly does NIPT screen for? And why are some ethicists concerned about it?
What does NIPT do?
Noninvasive prenatal testing (NIPT) analyzes DNA in a pregnant woman’s blood to screen for chromosomal disorders caused by the presence of an extra or missing copy of a chromosome. NIPT primarily looks for Down syndrome (trisomy 21), trisomy 18, trisomy 13, and extra or missing copies of the X and Y chromosomes. The testing is considered noninvasive because the blood is drawn only from the pregnant woman, unlike diagnostic testing such as amniocentesis, which involves inserting a needle into the womb to collect a sample of amniotic fluid, a procedure which carries a risk of miscarriage.
NIPT can give both false positives and false negatives, and one study revealed a 10% rate of false positivity. Because it is a screening test, any positive result requires invasive diagnostic testing like amniocentesis to confirm the result.
While NIPT is a relatively new testing method, it is being used at rapidly increasing rates. While it was previously covered only for those of advanced maternal age, more insurance companies are now covering it for all women. But there are some concerns.
The ethical problems that arise from this kind of screening are extensive. Some ethicists are concerned that the growing prevalence of NIPT will lead to an increase in abortions following a screening that reveals an increased risk for Down syndrome or other chromosomal abnormalities. A study published in 2020 found that the growth of prenatal screening in Europe has reduced the number of babies being born per year with Down syndrome by an average of 54%, and that study was conducted before many European countries offered NIPT. The screening and abortion rates in Iceland have led to only one or two babies with Down syndrome being born each year on average (the population of Iceland is 330,000).
A reduction in the number of people born with these conditions could directly affect the care and research available for those who are living with such conditions, as well as the possibility for increased discrimination. NIPT could also lead to sex-selective abortions, since the sex can be revealed within the first trimester when abortion is more readily available.1Tom Shakespeare et al., “Non-invasive prenatal testing: ethical issues,” Nuffield Council on Bioethics, March 2017, https://www.nuffieldbioethics.org/wp-content/uploads/NIPT-ethical-issues-full-report.pdf.
Some ethicists are also concerned that NIPT will eventually be used to screen for more conditions, including adult onset conditions or carrier status, meaning it could give some indication of issues that might affect the preborn child later in life or be passed on to the child’s future children. And, unfortunately, there is the potential that a mother would be pressured to have an abortion because of a possible condition that could affect the baby decades after he or she is born.
Preparedness or worry
For many parents, NIPT offers the opportunity to be prepared mentally and emotionally for any chromosomal disorder their baby may have. While the screening cannot give them the certainty of a diagnosis, it can give an indication of probability. For some, this probability is helpful in considering the possible needs of their child and even the possibility that he or she will not live long after birth. Knowing a child has an increased likelihood of a chromosomal disorder allows community to come around and support a mother or couple through the pregnancy.
But for some parents, false positives can lead to increased worry, which could have a negative effect on the pregnancy. When a test result comes back with an increased probability of a chromosomal disorder, the couple is normally referred for genetic counseling. Unfortunately, this counseling can increase worry or come with pressure to abort the child.
To test or not to test
While researching NIPT, I heard from many women who chose to have the test, but made it clear to their providers that it would not change anything about their pregnancies. For others, given the concerns and the possibility of false positivity, they chose not to have the screening. For them, the potential for increased worry was not worth the risk.
Dr. Kenneth Singleton, an OB-GYN in Little Rock, Arkansas, shared how he counsels patients who are deciding whether to have NIPT. He advises them that one of the reasons the tests exist is to terminate pregnancies if there is a problem. He goes on:
Counseled correctly, our patients hear the “sanctity of life” bent, and the ones that choose to test are foremost excited about early gender discovery and then are wanting to be mentally prepared if there are other genetic issues that are discovered. I tend to share about my cousin with Down syndrome and also about my granddaughter Sage with trisomy 13. I know patients are getting pushed into testing and then counseled on termination. That is very sad. I have turned that around and use the test as a way to prepare patients mentally, emotionally, and spiritually for the life that God is giving them.
A role we all play
We may not be the ones making decisions about prenatal testing, but as a community of believers, we all have a role to play. As followers of Christ, we recognize the inherent value of every person, even the tiniest preborn baby. At times, prenatal screening will reveal health issues ranging from minor to life-threatening. Whether these issues are revealed early in pregnancy or after birth, we have the opportunity to support families caring for children with a variety of needs. In some cases, our willingness to do so could be the difference for a mother deciding whether to choose life after a difficult diagnosis.
Receiving this hard news can lead to grief and a drastic change in expectations, even for families committed to life. Practical care like meals, a listening ear, and childcare for other children in the family are simple ways to show we are committed to walking with them on what may be a difficult path. Reaching out via text to ask for specific ways we can pray is a simple but powerful way to show someone they are not forgotten.
Deciding whether to have DNA screening may be complicated, but deciding to support and care for expectant mothers and families around us is simple. We follow the example of our Savior when we welcome children into our lives, seeing their value and loving them sacrificially.