Lessons from Babies with Trisomies

“The moral test of government is how it treats those who are in the dawn of life, the children; those who are in the twilight of life, the aged; and those in the shadows of life, the sick, the needy and the handicapped.”

March is Trisomy Awareness month.2 Most humans have twentythree pairs of chromosomes, one from each parent. When there are three rather than two of a specific chromosome, then there is a trisomy (From Latin and Greek, trisomy means “three bodies”). This month was selected because it is the third month of the year and the start of Spring. Trisomy Awareness Month not only sheds light on these diagnoses to educate both society and medical providers, but also to celebrate the children with these diagnoses.

Trisomies occur with any chromosome, but the clinical presentation is influenced by the specific chromosome found in triplicate. Some trisomies are embryonically lethal and cause very early pregnancy loss (such as trisomy 16 and trisomy 22). Other trisomies can present with later pregnancy loss (including second or third trimester stillbirth) or fetal malformations detected by ultrasound. These trisomies include trisomy 21, trisomy 13 and trisomy 18. Prenatal diagnosis can be utilized to determine the chromosomal make-up of the fetus and establish the diagnosis of a trisomy. Prenatal diagnosis can be helpful in allowing more specific counseling for parents and to assist in making delivery and postnatal plans. Many babies with trisomies are born alive and go home with their parents, even the most complex diagnoses such as trisomy 18 and trisomy 13. Babies with trisomies typically have malformations, coexisting medical morbidities, and neurocognitive disability. The extent of each depends on the specific trisomy and the individual child.

As a reproductive geneticist, bioethicist, and perinatal palliative care expert, I have been fortunate to be involved in the care of babies with trisomies. I am moved and humbled by this aspect of my career, even daily. I have come to appreciate that caring for babies with trisomies – during pregnancy or after birth - has come with many lessons. As part of Trisomy Awareness Month, I would like to share several of these lessons with my medical community:

1. We need to practice evidencebased medicine with regards to babies with trisomies. More commonly, babies and children with trisomy 21 or Down syndrome receive evidence-based medical care. Although there continue to be significant barriers to accessing adequate medical services for individuals with Down syndrome, there has been a paradigm shift within medicine. The origins of this shift can be traced back to several “Baby Doe” legal cases from the 1980’s.3 Specifically, the Baby Doe U.S. Supreme Court case from 1982 (in addition to other cases) involved a baby with Down syndrome with a tracheal-esophageal fistula that the physician chose not to intervene upon. The SCOTUS established that life-saving medical care could not be withheld from babies with disabilities or life-threatening conditions.4 In contrast to Down syndrome, in some regions of this country, babies with trisomy 18 and trisomy 13 may have care withheld or receive non-evidence-based medical care.5 Although mortality remains high among live newborns with these diagnoses, ongoing medical support and surgical repair of certain malformations, such as cardiac malformations, can significantly improve survival past one year of age for these babies.6 Therefore, the practice of routinely withholding care or without parental consent because the diagnosis is “universally lethal” should be questioned.

2. As health care providers, our words matter. Our language should be precise and based in medical facts.

Phrases such as “universally lethal”, “incompatible with life” or “severe disorder”, are often utilized when describing trisomy 13 and trisomy

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18. These phrases are not only confusing but also misleading and not supported by the current medical evidence. Our choice of language can influence the care babies receive, especially babies with trisomy 13 and trisomy 18. Why would the care team provide medical support for a diagnosis that is “lethal” and has a “dismal prognosis”? Again, our words matter, not only to the parents and families but also the entire medical care team.

3. “Sometimes our opinions are disguised as facts.”10 If we are using non-evidencebased language, what are we truly communicating? We may be revealing our negative opinions regarding neurocognitive disability.8 I believe there is an implicit bias in medicine with regards to neurocognitive disability, especially within obstetrics. This bias, stated frankly, is that there is limited quality of life in the setting of neurocognitive disability, especially when severe (as is the case in both Trisomy 13 and Trisomy 18). The commonly used and pejorative language that I described above is evidence of this bias. Like other implicit biases, we need to be aware of the bias, learn how the bias influences the care we provide (or not provide), and work diligently to overcome it. The first step is modifying our language to meet evidence-based standards. I prefer to use the term diagnosis rather than syndrome or disorder when discussing genetic conditions and recommend this as a first step when teaching medical students and residents.

4. We need to respect parents of babies with trisomies and not react to their advocacy. For many parents of children with significant medical and genetic diagnoses, they believe that it is their job as parents to strongly advocate for their children.9 Many parents are aware through social media that their child is at risk for substandard care based on the genetic diagnosis (again, the implicit neurocognitive bias in medicine). They have read accounts of poor treatment of children with similar diagnoses and are ready to question and challenge their child’s medical team. This can be upsetting for the members of the medical team and may feel undermined or attacked. My recommendation is to take a moment to understand this perspective of the parent or family member and then to discuss it gently and supportively with the family.

5. Never underestimate the capacity of a parent or family to love and cherish their child regardless of their child’s genetic diagnosis. This part has been the most rewarding aspect of my career. I have come to know many families very well through our perinatal palliative care program and it is incredible to see how much they cherish their child even when their child’s life is expected to be brief.

(See photos)

6. Trust in medicine is more important now than ever and especially when caring for babies with trisomies. If trust can be established, then there tends to be less conflict and more collaborative decision-making with regards to the treatment plan for babies with trisomies. A comprehensive, multidisciplinary perinatal palliative care program can serve as an effective platform for creating trust among the family and health care team for babies with complex genetic conditions such as trisomy 13, trisomy 18 and even some cases of trisomy 21. I am a firm believer that perinatal palliative care needs to become the standard of care for each hospital that offers both obstetrical and neonatal services and that provides care for babies with trisomies.

I encourage all health care providers to take time this month and read about trisomy 13, 18 and 21 from an evidence-based resource. I recommend starting with S. Haug and colleague’s piece published in JAMA Pediatrics in 2017.10 I also recommend reflecting on the implicit neurocognitive disability bias in medicine and what that may mean for your practice. Reading “Lethal language, lethal decisions” can aid with this reflection.11 Finally, if the moral test of government is how it treats the children and the handicapped (using Hubert Humprhey’s words), then the same is certainly true of health care.

Vivienne Nicolazzo, diagnosed with Trisomy 18 during pregnancy and cared for in AHN’s Olivia’s Angels Perinatal Palliative Care Program (photos used with permission by family)

Vivi would have turned 4 years old on March 23rd 2023

References:

1. Former vice president Hubert H. Humphrey at the dedication of the Hubert H. Humphrey Building, November 1, 1977, Congressional Record, November 4, 1977, vol 123, p. 37287

2. https://Trisomy.org

3. https://mn.gov/mnddc/honoring-choices/cnnReports/Moral_and_Ethical_Issues4-Baby-Doe-Kappel.pdf

4. This is based on my own personal communications with parents of babies with trisomies over my career

5. Ann Thorac Surgery 2017 Jun;103(6):1941-1949. doi: 10.1016/j.athoracsur.2017.02.068. Epub 2017 Apr 26

6. TK Koogler, BR Wilfond, LF Ross. Lethal language, lethal decisions. Hastings Cent Report 2003 Mar-Apr;33(2):37-41.

7. This is based on my own personal communications with parents of babies with trisomies over my career

8. JD Lantos Ethical Problems in Decision Making in the Neonatal ICU N Engl J Med 2018;379:1851-60.

9. S. Huag et al. Using Patient-Centered Care After a Prenatal Diagnosis of Trisomy 18 or Trisomy 13: A Review.

JAMA Pediatrics, 2017; 171(4): 382-387.

10. Dr. Brian Carter, Lecture from PLIDA 2022 Meeting, October 12th, 2022; “Ethics and Perinatal Palliative Care”