With the expansion of prenatal genetic testing, must come the expansion of dialogue as it relates to the ethical ramifications of prenatal diagnosis.
I am not a medical professional, nor a genetic specialist.
I am the parent of a child with Osteogenesis Imperfecta (OI), a rare genetic condition.
I am a woman and patient who received a prenatal diagnosis post 20-week-anatomy scan and underwent further genetic testing through amniocentesis to confirm the clinical diagnosis.
I am a fierce OI and birth advocate.
I will be referencing one medical journal in particular, that heavily discourages the use of the term “lethal.”
Why it is inappropriate to give a lethal diagnosis to a baby diagnosed in utero with Osteogenesis Imperfecta
OI is a spectrum condition. It ranges from mild to severe. Similar to other conditions, when diagnosed in utero, it is the most severe form a person can have.
Unless OI is suspected, and early genetic testing is performed, most often it is discovered at the routine 20-week-anatomy scan.
At this point, it can be seen through ultrasound that limbs are shortened and curved, the rib cage may be misshapen and small for gestational age, and a soft calvariam may be present.
Once a clinical prenatal diagnosis is made, the conversations that follow determine the life and well-being of both this unborn child and their mother.
Clinically refers to what is observed through sight.
A diagnosis cannot be definitively made unless confirmed through genetic testing. Before genetic testing confirms a diagnosis, it is an observation and an educated guess based on the experience and education of the medical provider and whoever they decide to consult.
Since OI is a very rare genetic condition it is highly unlikely that a medical provider has the necessary and qualified experience to provide this type of information to their patients at the time of the anatomy scan.
It is reasonable to clinically diagnosis a fetus in utero with OI, but it is inappropriate to diagnose what category that OI falls into.
OI, like other conditions, are classified by type.
“Type II OI is the most severe form. Infants are quite small and are usually born with multiple fractures, an unusually soft skull and an unstable neck. Limbs may be disproportionately small and legs may fall into a frog-like position. The head may be large for the size of the body. Almost all infants with Type II OI die at or shortly after birth, often due to respiratory problems.
****In the newborn period, it can be difficult to distinguish between Type II and severe Type III OI. This means that some children diagnosed clinically as Type II at birth may actually have Type III OI and have a longer life expectancy.” – http://www.oif.org
Traditionally, OI had two types. One type was severe and the other was less severe.
Now, there are upwards of 15+ types. The way types are able to be categorized is through comparing physical characteristics with the exact genetic mutation found through genetic testing.
The treatment and protocol for an infant or child born with OI is the same, regardless of type.
Treatment for OI consists of bisphosphonate infusions following a very specific protocol that has been researched and verified over the last 20 years.
The following is the requirement to qualify for bisphosphonate treatment:
- 1 or more compression fractures of the spine
- 2 or more long bone fractures in a limited time frame
Based on the requirements for treatment, a baby who is diagnosed in-utero with OI qualifies for treatment..
Regardless of type, it may be recommended for a baby diagnosed in utero to begin treatment within the first few days of life.
To make the statement that an unborn baby diagnosed in utero with OI has a lethal form of OI is inappropriate because it is nothing more than a guess…. an assumption…. an estimation.
And even then…. it’s extremely presumptuous.
It is based on the assumption that the child cannot sustain life outside of the womb.
This is incredibly inaccurate and eliminates the very viable possibility that the unborn baby does in fact have the very real potential to be born full term, benefit from treatment, and have a milder form of OI than initially suspected based on ultrasound alone.
Why it is unethical to give a lethal diagnosis to a baby diagnosed in utero with Osteogenesis Imperfecta
“The most influential problem is not specific to OI. It arises with the concept of “lethal” congenital malformations. The term “lethal” is very imprecise. However, a common understanding is that a “lethal” diagnosis implies an irresistible progression of a disease that inevitably leads to death in the near future. Such understanding and usage of the terminology “lethal” unavoidably implicates that treatment of such a condition is futile or even detrimental.
As reported previously and now observed in our case, such “lethal” language predetermines medical treatment, because it predetermines parental and medical anticipations on the clinical course.
“Lethal” language is harmful because it may distract parents from unprejudiced decisions between different treatment options. When counseling in cases of life-threatening fetal anomalies, most physicians encourage a certain treatment option.
Furthermore, significant discrepancies in counseling can be observed depending on whether a condition is considered to be “uniformly lethal” or “uniformly severe, commonly lethal.” Because of the inherent ambiguity in such terms, we recommend physicians to avoid the term “lethal” in communication practice and, even more importantly, in the nomenclature of diseases.” – What If the Prenatal Diagnosis of a Lethal Anomaly Turns Out to Be Wrong?
Autonomy as a basic principal of medical ethics “requires that the patient have the autonomy of thought, intention, and action when making decisions regarding health care procedures. Therefore, the decision-making process must be free of coercion or coaxing. In order for a patient to make a fully informed decision, she/he must understand all the risks and benefits of the procedure and the likelihood of success.” – What are the Basic principals of medical ethics
The term “lethal” is by definition harmful, coercive and misleading to a pregnant woman who hears it as a descriptive word for her unborn baby. She must then make a decision that includes the assumption that “her baby won’t make it anyhow.”
The Prenatally and Postnatally Diagnosed Conditions Awareness Act, which became public law on October 8, 2008, states:
It is the purpose of this Act to-- (1) increase patient referrals to providers of key support services for women who have received a positive diagnosis for Down syndrome, or other prenatally or postnatally diagnosed conditions, as well as to provide up-to-date information on the range of outcomes for individuals living with the diagnosed condition, including physical, developmental, educational, and psychosocial outcomes;
To give a prenatal diagnosis of a “lethal” condition, negates the very legislation stated here…. it does not provide up-to-date information on the range of outcomes for individuals living with the diagnosed condition.
Even when a lethal diagnosis is not given, it is highly unlikely and highly uncommon for medical providers to give this information to parents who are given a prenatal diagnosis of OI.
Why it is negligent to give a lethal diagnosis to a baby diagnosed in utero with Osteogenesis Imperfecta
“A significant limitation of these diagnostic and prognostic criteria is that they were developed without taking into account the effect of medical interventions. A recent review stated that OI “type II is lethal, usually because of respiratory failure resulting from multiple rib fractures.” This is the case only if one decides not to treat respiratory failure due to rib fractures.” – AAP News and Journals
Most often, with very limited, almost no exception, a baby given a lethal diagnosis of OI in utero will not be given respiratory support as a neonate and will not be offered treatment. This heavily skews the statistics as they relate to neonate outcome when OI diagnosis is present.
This is across the board.
OI alone is not reason enough to not offer interventions like respiratory support. To not offer respiratory support and further not offer treatment in the NICU is failing to take proper care of a neonate.
“With an explicit aim of preventing early postnatal death, the treatment of respiratory failure due to rib fractures is likely to be effective. However, death also may result from an undersized thorax, overall thoracic wall instability, and pulmonary hypoplasia.10 When such features are present, they are likely to be associated with high mortality, even with treatment.” (This last statement was sourced from an article written in 1989 and does not include whether or not the neonate was given the opportunity to be carried to full term or if early induction was recommended by medical providers). – AAP News and Journals
In conclusion, I have access to hundreds of testimonials from families who claim they were given a “lethal” diagnosis of their unborn child, and their child survived.
“When the diagnosis was made prenatally, the infants received less intensive care compared with those who were diagnosed postnatally. Because aggressive treatment was not associated with prolonged survival, the authors concluded that it should not be offered.7 This is a classic self-fulfilling prophecy. It is hard to know what the mortality rate would be with treatment if current outcome statistics are based on cohorts in which many affected infants die after termination of pregnancy and another large number of infants receive palliative care after birth.8,9 We believe that classification is not useful today and that the spectrum of clinical severity of OI should be considered as continuous rather than classified into discrete categories.” – AAP News and Journals
Furthermore, medical professionals who are overseeing the pregnancy of a baby diagnosed in utero with OI, may recommend and insist upon an early induction before the baby reaches full term.
This has its own host of problems, which include underdeveloped lungs, bones and other organs. There is absolutely no reason to induce pre-term labor for a baby who has OI, unless there are other factors that include the mother’s health.
To use the term “lethal” not only distracts parents and medical providers from making supportive decisions that will help the baby thrive, but discredits the immense progress the OI community has made in the last two decades as it relates to treatment and a positive prognosis.
The care available to infants and children with OI is extraordinary. A studied and verified pain management protocol is widely used. The early intervention programs that include physical and occupational therapy is advanced and readily available. Do not keep this information from expecting parents, but rather include them in the resilient and empowering experience that is a person with OI, their family and a team of OI specialists these families recommend.
The term “lethal” to describe an OI diagnosis prenatally is archaic and inconsistent with the babies who survive birth, thrive and present themselves as purposeful, joy-filled, exceptional human beings.