Surveillance guidelines for children with trisomy 18

Abstract

Trisomy 18 is the second most common aneuploidy syndromes in live born infants. It is associated with high mortality rates, estimated to be 75%–95% in the first year of life, as well as significant morbidity in survivors. The low survival is largely due to the high prevalence of severe congenital anomalies in infants with this diagnosis. However, interventions to repair or palliate those life‐threatening anomalies are being performed at a higher rate for these infants, resulting in increased rates of survival beyond the first year of life. While it is well documented that trisomy 18 is associated with several cardiac malformations, these patients also have respiratory, neurological, neoplastic, genitourinary, abdominal, otolaryngologic, and orthopedic complications that can impact their quality of life. The goal of this review is to present a comprehensive description of complications in children with trisomy 18 to aid in the development of monitoring and treatment guidelines for the increasing number of providers who will be caring for these patients throughout their lives. Where the evidence is available, this review presents screening recommendations to allow for more rapid detection and documentation of these complications.

Young adolescent with trisomy 13

“…Therefore, a more balanced approach of the (older) patients with trisomy 13 has been suggested regarding personal circumstances and parental autonomy 15 26. When these patients reach adolescence, screening according to the trisomy 18 surveillance guideline is advised 9. In addition, we recommend standard echographic screening of the heart and genitalia interna in girls in advance of menarche.…”

“…In a descriptive study 9% (total 94 children) survived past 10 years 6. So infants with disorders such as trisomy 13 and 18 once deemed lethal are now often living significantly longer, although with a broad range of associated disabilities due to their underlying disease process 9 10. In this case, we were confronted with complications of uterus didelphys occurring and heart failure due to ruptured sinus of Valsalva aneurysm (SVA) both in her teens.…”

Trisomy 18 – When the Diagnosis Is Compatible With Life

“…(9,10,16) As corroborated by several articles, the need for ventilatory support, oxygen and feeding assistance is something common throughout children with trisomy 18, and the children in our study are not exception. (10,17,18) These needs and medical complexity might be translated on long lengths of stay of hospital admissions. (19,20) In addition, many studies show a relevant proportion of children discharged home and requiring specialized home care assistance.…”

Síndrome hipotónico del recién nacido y lactante

“…Una causa importante de hipotonía, es la presencia de síndromes genéticos. Dentro de ellos destacan: -Síndrome de Edwards (trisomía 18): Se caracteriza por marcado retraso del desarrollo psicomotor, microcefalia, fontanela amplia, occipucio prominente, esternón corto, agenesia o hipoplasia de pulgar, mano trisómica y cardiopatía congénita 14,15 .…”