Prenatal Trisomy 18 or Trisomy 13 Diagnosis Calls for Patient-Centered Care

By Will Boggs MD

February 17, 2017

NEW YORK (Reuters Health) - Counseling regarding a prenatal diagnosis of trisomy 18 (T18) or trisomy 13 (T13) should be based on a patient-centered-care (PCC) approach that fully educates parents and then honors their decisions about what is in their infant's best interests.

"One of the greatest challenges of PCC in the setting of neonates with severe, not uniformly lethal anomalies (such as T18 and T13) is sharing accurate, complete, and unbiased medical information," said Dr. Shelly Haug from Loma Linda University Children's Hospital in California.

"Now we have earlier diagnosis using cell-free fetal DNA or via amniocentesis. We need more collaboration between obstetricians and neonatologists in consistently presenting information that is up-to-date, accurate, free from bias, and supportive of parents' surrogate decision-making capacity for their child," she told Reuters Health by email.

Dr. Haug's team outline a number of key PCC recommendations for a balanced approach to joint decision making in a report online February 13 in JAMA Pediatrics.

T18 occurs in between one in 6,000 and one in 8,000 live births, the researchers note, while T13 complicates one in 10,000 to one in 20,000 live births. There is increasing evidence of variable outcomes that may be improved by postnatal interventions, they add.

The four key concepts of PCC - dignity and respect, information sharing, participation and collaboration - align with clinical-ethics principles and are associated with enhanced patient/parent satisfaction.

In the setting of these trisomies, PCC means promoting a dialog about the influence of values, belief and cultures on decisions and outcomes; presenting accurate information about outcomes that take into consideration the individual clinical features of the fetus or child; encouraging participation of families and health care professionals in the ongoing decision making process without coercion and, where necessary, making appropriate ethics referrals; and creating interdisciplinary teams that can assess and care for the complex needs of these families throughout the continuum of care.

"One caveat is that hopefulness does not mean we are unrealistic in our predictions or create false hope," Dr. Haug said. "There must be tolerance not only for differences of opinion, but tolerance of some direct 'attacks' to PCC by those who believe that the 'shades of gray' are more tainted as black rather than as 'light gray.'"

"Palliative care is a helpful option that is often seen initially with a negative connotation of immediate death," she said. "I want medical providers and families alike to understand the ability of palliative care to provide valuable and necessary support for such complex situations. Parents need options, all of which should be acceptable to physicians."

"Patient-centered care can facilitate parents and medical teams making unimaginably difficult decisions for infants with severe perinatal conditions with uncertain outcomes," Dr. Haug concluded. "Patients and their families deserve to have a voice in their care. In fact, collaboration in decision-making has been described as the most important determinant in parental satisfaction with end-of-life care. We need to have more physician education on communicating in a more balanced, complete, and unbiased way when confronted with these diagnoses."

She added, "We need research which includes the perspectives of parents who have made decisions from all areas of the spectrum, from interruption of pregnancy through intensive care and surgical procedures for their infant with these severe anomalies. Research to understand how infant and family outcomes are influenced by a focus on PCC. We need further research on the variability of outcomes, including differences between infants with full T18/T13 versus partial expression. We need to understand more about the epidemiology such as maternal or paternal exposures which may influence these aneuploidies."

"A family-centered approach makes sense, given that decision making regarding infants with T13 and T18 is likely to remain for years in what Lantos calls a 'stable gray zone' in which further data and experience are unlikely to simplify decision making," write Dr. Jeffrey P. Brosco from University of Miami Miller School of Medicine and Dr. Chris Feudtner from The Children's Hospital of Philadelphia in a linked editorial.

"Our challenge as clinicians and researchers is to find the best ways to communicate uncertainty and to share in the labor of working through this uncertainty with families to make decisions consistent with their values," they conclude.

Dr. Haruhiko Sago from the National Center for Child Health and Development in Tokyo told Reuters Health by email, "Physicians should treat or care for patients based on patients themselves, not on the patients' diseases. This is not new, but it is easily forgotten."

"More reliable research is required, especially research on the outcomes of various endpoints in various treatment options," said Dr. Sago, who was not involved in the new work. "More discussion is needed for legal and economic aspects of PCC."

Dr. John C. Carey from the University of Utah's division of medical genetics, Salt Lake City, told Reuters Health by email, "We have to ensure that the obstetric, neonatal, and pediatric communities are up to date on survival figures for infants with trisomy 13 & 18."

"Additionally, these professionals need to be aware of the evidence that intervention does make a difference in the management of infants with these conditions," said Dr. Carey, who also was not involved in the review.


JAMA Pediatr 2017.