John Carey, MD - 2024 Fetal Care Center Navigating Perinatal Care for Trisomy 13 & 18

Tomiki Kosho published a 2006 paper in American Journal of Medical Genetics where he offered 24 families in Japan full intervention for trisomy 18 (though only ductus ligation was available), all 24 chose full intervention, 22/24 survived first week, and 6/24 survived first year.

In a 2008 Pediatrics paper, McGraw and Perlman polled New York neonatologists with a case where over half indicated they would not resuscitate a baby with trisomy 18 and VSD in the delivery room.

A 2016 American Journal of Medical Genetics survey of neonatologists showed 60% said active treatment of fetus/newborn with trisomy 18 is futile, 45% said trisomy 18 is incompatible with life, and over 50% said infant should not be resuscitated.

Janvier's paper in Pediatrics polling social networks found over 400 families recognized challenges but saw joy and felt there was good quality of life in children with trisomy 13/18.

Population studies as of 2014 showed about 50% or higher of children with trisomy 13/18 died in first week of life, and one-year survival ranged from 0-2%, averaging about 5% (1 in 20 surviving first year).

Meyer's multi-state study showed 1-year survival of 13% for trisomy 18 and 11% for trisomy 13, a marked contrast to earlier population studies.

The Journal of Pediatrics study by Cortezo, Leandra, and Dan Swar (population retrospective cohort) demonstrated that intervention does increase survival in trisomy 13/18.

Ben Wilfond's 2019 paper in Hastings proposed a bioethical standard based on the moral value of the caring relationship between parent and child as an organizing principle for decision-making.

The AATS (American Association of Thoracic Surgeons) recommendations state that decisions should not be based solely on presence of trisomy 13/18, but instead made case-by-case considering severity of heart disease and presence of other anomalies.

Kosho's American Journal of Medical Genetics paper appendix contains more than 50 paragraphs or sentences about parents and their perspectives on caring for children with trisomy 13/18.

In a previous study only about a third of cardiologists discussed cardiac surgery prenatally for trisomy 13/18, but in Kosov's recent study over 60% did (compared to almost 100% for trisomy 21).

Current data show 6-19% of children with trisomy 13/18 survive the first year, and intensive intervention including cardiac surgery improves one-year survival. Greater than 5-year survival is greater than 10% of those born.