One of the things that has changed greatly over the years, in my practice and in medical practice in general, is the approach to some congenital anomalies, particularly to serious chromosomal anomalies. Trisomy 13 and 18 specifically have seen an enormous change in the attitudes of many physicians; from an near-universal denial of active interventions to a more individualized approach, which takes into account the wishes and values of the parents, and recognizes that the lives of children with impairments are also of value. (I nearly started a new hashtag “trisomic lives matter”, then I thought better of it.)
Many infants who are live-born with these diagnoses can benefit from relatively modest medical interventions, and sometimes from more invasive treatments as well. Two recent articles from the American Journal of Perinatology demonstrate how things have changed. Both have sample sizes on the small side, compared to regional database studies, the first from a single centre (university of N Carolina) they include 32 fetuses approaching term with trisomy 13 or 18, and compared outcomes among those whose parents had elected to have some active interventions, and those who had chosen comfort care only.
Dotters-Katz SK, et al. Management of Pregnancy and Survival of Infants with Trisomy 13 or Trisomy 18. American journal of perinatology. 2016(EFirst). Intrapartum stillbirth only occurred among the babies with a decision for comfort care, and death on the first day of life only occurred (with one exception) among those in the comfort care group. It is interesting to note that more than 50% of the babies in each group survived to hospital discharge, so even if the decision is for comfort care, if you get through the first 24 hours, discharge to home is likely.
The second article only includes infants with trisomy 18 and starts at birth, admitted to one of 2 hospitals in Memphis.
Dereddy NR, et al. Neonatal Hospital Course and Outcomes of Live-born Infants with Trisomy 18 at Two Tertiary Care Centers in the United States. American journal of perinatology. 2016(EFirst). There are 29 infants in this series, and their survival to discharge was somewhat lower, but still significant. They also happened to have more babies with very serious heart defects (most of the cardiac defects in trisomy 13 and 18 and VSDs), perhaps because of the way the cohort was put together, which may have affected survival. Among those babies who did not have ‘critical heart disease’ about half went home, whereas all but one of those with critical cardiac malformations died before discharge.
And by way of contrast, an enormous regional database study with nearly 2,000 babies (693 with T13 and 1,113 with T18), in such studies the amount of individual data available is usually much less, so there is no analysis of decision-making in this study, Meyer RE, et al. Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study. Am J Med Genet A. 2016;170(4):825-37.
Among children with T13, 5-year survival was 9.7%;
among children with T18, it was 12.3%. For both trisomies,
gestational age was the strongest predictor of mortality.
Females and children of non-Hispanic black mothers had
the lowest mortality. Omphalocele and congenital heart
defects were associated with an increased risk of death for
children with T18 but not T13. This study found survival
among children with T13 and T18 to be somewhat higher
than those previously reported in the literature, consistent
with recent studies reporting improved survival following
more aggressive medical intervention for these children.
1 month and 1 year survival in that study were 24% and 11.5% for T13 and 36.1% and 13.4% for T18.
Barb Farlow, Annie Janvier, and I have a new article which will be appearing soon, which covers some of the same questions; of course, as soon as it appears there will be more discussion on this blog.