Prenatal Testing: Do Parents Have Informed Consent?
Prenatal testing has become a routine part of obstetric care, with new technologies regularly emerging that focus on giving parents ever-increasing information about their unborn infants. The routinization of prenatal testing has led to a general expectation that it is a normal part of having a healthy baby. However, routine use of genetic prenatal testing hides a collective fiction and a collective silence. The collective fiction is that the purpose of the tests is to contribute to healthier babies. That leads to the collective silence: abortion is almost always offered for atypical test results.
As such, the American College of Obstetricians and Gynecologists (ACOG), an advocacy organization that lists abortion access as a policy priority, now recommends that both genetic prenatal screening and second trimester ultrasound (anatomy scan) be offered to all pregnant women “regardless of maternal age or risk of chromosomal abnormality.” Genetic screening is often offered at the first OB appointment.
There is now routine recommendation for prenatal testing, its introduction in early pregnancy regardless of maternal risk factors, and minimal pre-testing counseling. This combination has resulted in a climate where many parents do not fully understand what consenting to prenatal tests means. There are several reasons why informed consent is typically lacking:
1. Parents Don’t Understand that Screening Tests Are Not Diagnostic
In medical testing, there are screening tests and there are diagnostic tests. Screenings look for possible conditions. Diagnostic tests confirm if the condition is actually present.
Parents often do not understand the difference between a screening test and a diagnostic test. Common first trimester non-invasive genetic prenatal screening tests (variously called non-invasive prenatal test or screen, NIPT, NIPS, cfDNA, and cell-free DNA) are not diagnostic. These screening tests only calculate a probability that the fetus is affected with a genetic anomaly. NIPT tests are commercially marketed as being 99% accurate (despite having a high rate of false positives), leading parents – and even some medical professionals – to mistakenly assume the results are diagnostic.
Additionally, while ultrasound can be diagnostic for structural concerns in some cases, in others it only indicates the possibility of a concern (such as identifying soft markers for genetic syndromes).
In practice, providers sometimes use NIPT results with ultrasound findings to claim a diagnosis with certainty even though there is not conclusive data.
Similarly, many diagnosis stories begin with a “routine” second semester ultrasound. When parents agree to ultrasound to learn the sex of their baby and get a cute picture for the fridge, they often do not know the range of structural anomalies and genetic soft markers that ultrasound may identify. The shock of an abnormal finding is compounded when difficult news is delivered on what was expected to be a happy day – sometimes even with older siblings present to “meet the baby” on the ultrasound.
2. Parents Don’t Understand What Prenatal Tests Screen For
In many cases, parents agree to a NIPT test because they can learn the sex of their baby earlier than on ultrasound. They often aren’t aware that NIPT also screens for genetic anomalies such as Trisomy 21 (Down syndrome), 18, and 13. The traumatic experience of receiving an unexpected result is exacerbated when parents did not realize it was even a possibility.
In addition, medical professionals often don’t clearly communicate to parents why they are offering genetic screening; there is no prenatal treatment for the genetic anomalies that NIPT looks for. Instead, first trimester screening routinely results in pressuring parents to abort a baby who may have a disability. Abortion is the reason behind the collective fiction and collective silence around prenatal testing.
3. Parents Don’t Understand the Outcomes of Test Results
Parents are unaware of what will happen when a prenatal diagnosis is suspected or confirmed. Additional testing will always be offered. This is particularly troubling when parents who consented to a screening blood test because it was non-invasive are then strongly counseled to have follow-up invasive tests (amniocentesis or chorionic villus sampling, or CVS for short) with a risk of miscarriage. Once parents agree to an initial test, a cascade of follow-up testing almost inevitably follows an atypical result, even if parents had never intended to have any additional testing. It is like being put on a speeding train with limited options for exit, but parents had no idea they were boarding the train by agreeing to an initial screen.
Medical professionals frequently give parents a litany of worst-case scenarios for every unusual finding. Despite the fact that a diagnosis is not a prognosis, pronouncements are made with more certainty than it is possible to have before the evaluation of the child after birth. Sometimes overdiagnosis occurs because medical providers have outdated information on the disability or because of their inability to admit that they don’t have all of the answers, but frequently it stems from disability bias that views a life lived with significant disability to be unworthy of living. Abortion is then recommended as the one escape from the problem – a way to get off the speeding train careening towards the disaster the parents have been told to expect when they meet their baby at birth.
It is also the case that some test results cannot be meaningfully interpreted. Tests such as chromosomal microarray (offered with CVS) can detect minute changes in a baby’s genetic makeup (microdeletions) for which the health implications – if any – are simply unknown. Inconclusive genetic screening results cause anxiety during pregnancy and beyond, even if the child appears to be healthy at birth. Receiving genetic test results with unknown implications is so stressful that parents call it “toxic knowledge” they wish they never had.
Furthermore, parents are almost always pressured to abort a baby who may have a disability – and some parents abort even based on non-diagnostic screening results. The offer of abortion by a trusted OB is profoundly traumatic, especially considering how often parents consent to prenatal testing without even realizing it is looking for a disability. Pressure to abort can come not only from medical providers, but even from family, friends, and clergy who think that termination is a “quick fix” in response to a prenatal diagnosis.
Importantly, babies with a prenatal diagnosis who are not aborted face a secondary threat to life when they are denied necessary care during labor, delivery, and at birth. Unsuspecting parents are not informed that test results which identify a potential genetic condition or significant structural anomaly (such as certain heart defects) can result in their baby being treated differently than other babies. Far from improving the health of the baby, prenatal testing can lead to premature death.
Do parents have informed consent for prenatal testing? In many ways, no, they do not. Prenatal testing can have serious consequences; parents deserve complete information before deciding whether to consent to such testing.
Additional Resource: NIPT Positive Predictive Value Calculator
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