Navigating NIPT results: What expectant parents need to know

Samaritan Ministries is thoroughly pro-life. Members never share for abortion. We are posting this article to educate expectant and future parents if a doctor recommends genetic testing during a pregnancy.

We acknowledge the dilemma that some results may pose for parents and hope this information by Samaritan member and maternity nurse Julie Lancaster can help you navigate those waters and prepare for bringing your child into the world just as God intended them to be.

A “prenatal diagnosis” of an adverse condition for your unborn child after genetic testing can leave you in a state of panic or resignation.

Your doctor may urge you to let them “take care of it,” to do a “preterm induction of labor,” or to “say an early good-bye.” But those aren’t options worth considering when discussing your unborn child’s life.

What should you do? How do you process the rushed decision-making situation you have unexpectedly encountered?

Your head is likely spinning, foggy, and in survival mode.

The following information and guidance may help you through this difficult time.

A new type of prenatal test

Prenatal lab testing began decades ago and has continued to expand.

The 1970s brought ultrasound, and the ’80s introduced serum screening to look for genetic problems in babies.

Then, in 2011, NIPT (noninvasive prenatal testing) was introduced, enabling analysis of cell-free DNA from the baby’s placenta that was floating in the mother’s bloodstream. These tests can be drawn starting at 9 to 10 weeks­—most commonly screening for genetic disorders like trisomy 13 (Pautau syndrome), trisomy 18 (Edward syndrome), trisomy 21 (Down syndrome), and sex- linked chromosome anomalies. These tests can also reveal gender.

The American College of Obstetrician and Gynecologists recommends that NIPT be offered to every pregnant woman, regardless of risk factors. Out-of-pocket costs can vary from $800 to $2,000 or more. The FDA has not authorized or approved NIPT, deeming it a medical device due to being a laboratory-developed test. More tests have been developed to look for other less common genetic conditions, determine fetal blood type, and establish paternity.

Screening vs. diagnostic testing

The key is that these are screening tests, which reveal a statistical likelihood of a condition.

Screening tests are different from diagnostic tests. A diagnostic test gives conclusive results. Screening tests do not. Screening tests are therefore less reliable than diagnostic tests. However, no test is 100% correct. While screening detection of common conditions, like trisomy 13, 18, and 21, have a demonstrated accuracy of greater than 95%, less common anomalies can have reliability rates as low as 4% to 20%.

The less common a condition, the greater likelihood of a false positive result. In other words, the tests in many cases report a condition where none exists. Other variables to reliability include:

• maternal age[i]
• maternal BMI of 30 or more
• multiple gestation
• inaccurate pregnancy dating
• donor egg/sperm/embryo
• certain medications
• prior organ transplant
• Lupus (SLE)
• a vanishing twin

Combining an ultrasound exam with lab testing improves accuracy. However, a Level 2 ultrasound (to examine a baby’s anatomy) is scheduled between 18 and 22 weeks, well after the NIPT results have returned.

Steps to take

What can you do if you receive adverse results?

First, pray. Ask God for clarity, wisdom, and strength as well as health and protection for the baby. Include your husband in this. He should be involved every step along the way, as he can help advocate for you and your baby.

Second, refuse to make any irreversible decisions without asking your obstetrician to plainly state what they are proposing. Be aware that your obstetrician may offer “protection,” which can be a veiled recommendation for abortion, even if never in your wildest dreams did you imagine yourself considering that.

Once you’re able to stay calm and think clearly, you need to assess the situation.

First, if you want to know for sure what’s going on with your baby, make certain you have a confirmed diagnosis after invasive testing and a detailed anatomy ultrasound evaluation performed by an experienced technician. Preliminary screening tests are not diagnostic, yet this is when the pressure to “terminate,” or abort, the pregnancy may begin.

Obstetricians and maternal fetal medicine doctors are prenatal specialists, not pediatric specialists for any condition, nor do they treat children. Many conditions present on a spectrum of severity, meaning that a child could be minimally, moderately, or severely affected by their condition. Some DNA findings are inconclusive: Is this an incidental variant or a known anomaly? Do one or both parents have the same variant?

Next, request the written name(s) of the diagnosed condition(s). Then ask detailed questions such as:

• What testing is needed to confirm a diagnosis?
• What are the possible risks as the pregnancy continues?
• What are the possible risks of delaying a decision?

Remember that if a physician begins discussing “termination,” they’re probably talking about abortion. That may also be the case if they propose a “procedure,” so be sure to ask clarifying, specific questions about that procedure and how it will affect the baby.

Firmly request a referral to a pediatric specialty physician who cares regularly for children with the condition you’re facing. Your usual pediatrician can often assist in making an appointment. Do not take no for an answer.

After birth, continue a thorough evaluation by a specialist who routinely works with these conditions. The situation cannot be known with certainty until the child continues life outside the womb.

Be aware that your obstetrician may not support your decision to carry to term after a prenatal diagnosis. You may find that conversation about termination options comes up at every appointment or with every referral visit. Or you may find that, once the decision is made, termination is never mentioned again. Declining to discuss termination is reasonable. Transfer of care to a more life-affirming provider may be necessary.

You are the employer of the caregiver, and you get to choose the type of care you want.

Educate yourself

Once you have a diagnosis, it may be helpful to use your connections to find parents who have children with the same diagnosed condition. If it is an uncommon condition, you may have to use online resources and disease support groups. Seek out honest information about the challenges and joys of their experiences and learn as much as you can. Rarely will you find families that wish they had not had the opportunity to parent their child.

Ask them questions like:

• What are the typical treatments or management options?
• What treatment/medication research is being conducted for this condition?
• What other modalities, such as nutrition, alternative therapies, or supplements, have been used? Were they helpful?

Seek support and guidance from your pastor. Research resources available to you through pregnancy resource centers, pro-life groups, or your church affiliations.

Do not hide from your usual support systems. This is not a shameful situation. This is a time of great need.

Create plans for birth, labor, and postnatal treatment

As you approach birth, create labor and treatment plans, including hydration and feeding.

Make sure that your baby will not be denied routine fetal heart rate monitoring, cesarean delivery for fetal intolerance of labor, and routine stabilization procedures after delivery. In a group practice, all potential delivery and pediatric attendees need to be informed and included in planning.

Some conditions will be visibly obvious at once after birth. Other conditions will require confirmatory laboratory and/or radiologic testing. Routine care should not be withheld when diagnoses have not been confirmed after birth. Physicians and families cannot know exactly how an infant will tolerate labor or life outside the womb. A plan addressing many possibilities will help in navigating the early minutes and hours after birth.

Sadly, a prenatal diagnosis is often associated with a shortened lifespan in comparison to diagnosis after birth. This may be due to lack of stabilization, hydration, and feeding that sometimes occurs when a baby has a prenatal diagnosis. Infants with genetic abnormalities might also be refused corrective surgeries for defects of major organs.

However, perinatal palliative care is available in many major medical centers to walk alongside families facing chronic/long-term health struggles. (Perinatal refers to the five months before birth and one month after birth.) These services coordinate available resources for ongoing physical, psychological, social, emotional, and spiritual needs.

Other things to consider include:

• Would delivery at a specific, nonlocal facility provide more expedient access to specialists, as opposed to a local facility, necessitating transfer after birth and separation of the family? If so, which one?
• An extended time away from home might be required in that case. Does the family have the financial resources for that choice? Or would remaining closer to home create less prenatal upheaval for the family and any other children?

Helping others in need

You can also help if a family member or friend may be dealing with this news.

First, pray about what God would have you do in response to this information. Some possibilities are to:

• Share these articles and some resource information with others in your church family, pastor, and local crisis pregnancy center.
• Provide time and financial resources to groups that provide direct support.
• Learn more about disabilities and what you can do to make your church disability-friendly.
• Provide opportunity for families with a disabled member to have respite time.
• Support your local crisis pregnancy center through time and material supply donation.

The ever-expanding field of testing, both prenatal and adult, will continue to generate more information and challenge treatment decisions. We must stay informed and maintain our biblical worldview. Just because we can do something, doesn’t mean we should. The foundation for proper action is information gathering and prayerful decision-making based on faith, not fear.

The following sources were used in the development of this article:

• PrenatalDiagnosis.org
• LozierInstitute.org/hidden-epidemic-nearly-70-of-abortions-are-coerced-unwanted-or-inconsistent-with-womens-preferences/
• DNAScience.PLOS.org/2012/10/18/prenatal-genetic-testing-when-is-it-toxic-knowledge/
• LozierInstitute.org/the-effects-of-abortion-decision-rightness-and-decision-type-on-womens-satisfaction-and-mental-health

[i] An NIPT/Cell-Free DNA Screening Predictive Value Calculator is available at ppv.geneticsupportfoundation.org for families to view estimates of different tests’ reliability for women of different ages.