Trisomy 18 in a 20‐year‐old woman

Abstract

A 20-year-old female with trisomy 18 is described. Survival past infancy is rare in this disorder. Little is known concerning the factors that contribute to prolonged survival with this syndrome. This case provides an opportunity to review the management of older children and young adults with trisomy 18.

Survival with trisomy 18—data from Switzerland

“…Most of the studies performed during the last 20 years (using data from between 21 and 106 children with trisomy 18) showed a mean survival of 3-14.5 days [Schinzel and Schmid, 1971;Carter et al, 1985;Goldstein and Nielson, 1988;Root and Carey, 1994;Brewer et al, 2002;Rasmussen et al, 2003]. Very few patients with trisomy 18 were reported to have survived longer than 10-15 years [Geiser and Schindler, 1969;Surana et al, 1973;Metha et al, 1986;Kelly et al, 2002;Petek et al, 2003] (see Rasmussen et al, 2003 for more detail).…”

Regarding trisomy 18

“…The report of trisomy 18 in a 20-year-old woman [Kelly et al, 2002] is of interest. Unfortunately, the principal lessons to be learned from it are not well crystallized by the authors.…”

“…However, we disagree with the authors in some of their concluding assertions. Kelly et al [2002] state that ''Parents must be advised to seek medical attention when their child becomes febrile.'' Reading such a remark, parents whose child has already died early due to overwhelming sepsis may experience guilt and/or anger because providers encouraged them to ''let go'' and did not urge them to call about a fever.…”

“…It is just as important that we maintain a balanced and realistic stance, honor parents' wishes and perspective, and respond appropriately to the demands of ''primum non nocere.'' The opinions of Carey [1992] and Van Dyke and Allen [1990], cited by Kelly et al [2002], are notable for a subtly nuanced emphasis on psychosocial support for families in complex decisions with anticipatory grieving and other complicating factors. We do not think that Kelly et al [2002] have adequately adapted that subtlety to their comments about medical care for the surviving affected person.…”

Trisomy 18 in a second 20‐year‐old woman

“…In a recent issue of the journal, Kelly et al [2002] reported a case of a 20-year-old woman with trisomy 18. She presented to the cardiology service after two decades without cardiac care and presented with many physical stigmata of trisomy 18 and echocardiographic evaluation was consistent with tetralogy of Fallot.…”