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.
Neonatal Research 
There was also this, in JAMA, with an accompanying editorial (http://jama.jamanetwork.com/article.aspx?articleid=2536606)
JAMA. 2016 Jul 26;316(4):420-8. doi: 10.1001/jama.2016.9819.
Survival and Surgical Interventions for Children With Trisomy 13 and 18.
Nelson KE1, Rosella LC2, Mahant S3, Guttmann A4.
Author information
Abstract
IMPORTANCE:
Trisomy 13 and 18 are genetic diagnoses with characteristic physical features, organ anomalies, and neurodevelopmental disability. Most children with these disorders die shortly after birth, although limited data suggest some children survive longer. Surgeries are controversial, and little evidence is available about outcomes.
OBJECTIVE:
To describe survival and utilization of any type of surgery among children with trisomy 13 and 18 born over a 21-year period in Ontario, Canada.
DESIGN, SETTING, AND PARTICIPANTS:
This retrospective cohort study used linked health administrative databases to identify children born in Ontario between April 1, 1991, and March 31, 2012, with a diagnosis code for trisomy 13 or 18 on a hospital record in the first year of life. Survival was calculated from birth and death dates; children living on March 31, 2013, were censored at their last clinical encounter.
EXPOSURES:
All procedures classified as occurring in an operating room through March 31, 2013, were categorized as major, intermediate, or minor surgeries.
MAIN OUTCOMES AND MEASURES:
Survival and surgical procedure utilization.
RESULTS:
The cohorts included 174 children with trisomy 13 (mean [SD] birth weight, 2.5 [0.7] kg; 98 [56.3%] female); and 254 children with trisomy 18 (mean birth weight, 1.8 [0.7] kg; 157 [61.8%] female), with follow-up times of 0 to more than 7000 days. Median (interquartile range [IQR]) survival times were 12.5 (2-195) days for trisomy 13 and 9 (2-92) days for trisomy 18. Mean 1-year survival for trisomy 13 was 19.8% (95% CI, 14.2%-26.1%) and 12.6% (95% CI, 8.9%-17.1%) for trisomy 18. Ten-year survival for trisomy 13 was 12.9% (95% CI, 8.4%-18.5%) and 9.8% (95% CI, 6.4%-14.0%) for trisomy 18. Survival did not change over the study period. Forty-one children (23.6%) with trisomy 13 and 35 children (13.8%) with trisomy 18 underwent surgeries, ranging from myringotomy to complex cardiac repair. Median age at first surgery for trisomy 13 was 92 (IQR, 30.5-384.5) days and for trisomy 18, it was 205.5 (IQR, 20.0-518.0) days. Kaplan-Meier curves showed 1-year survival after first surgery of 70.7% (95% CI, 54.3%-82.2%; n = 23) for trisomy 13 and 68.6% (95% CI, 50.5%-81.2%; n = 29) for trisomy 18.
CONCLUSIONS AND RELEVANCE:
Among children born with trisomy 13 or 18 in Ontario, early mortality was the most common outcome, but 10% to 13% survived for 10 years. Among children who underwent surgical interventions, 1-year survival was high.