Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk

Abstract

The natural history of trisomy 18 and trisomy 13 was investigated using data derived from parent questionnaires and medical records from 98 families with an index case of trisomy 18 and 32 families with an index case of trisomy 13. Data are presented on pregnancy, delivery, survival, medical complications, immunizations, growth, cause of death, cytogenetics, and recurrence risk. Half of the trisomy 18 babies were delivered by C-section. Fetal distress was a factor in half, and the only reason in a third of C-section deliveries. One minute Apgar scores were significantly lower in C-section and breech deliveries. There were more small for gestational age babies than in the general population, but most of the low birth weight newborns were small for gestational age, unlike the general population. Survival in this group of children was better than in other studies due to ascertainment bias. There were more girls than boys at all ages for both conditions, and the sex ratio decreased with time. Growth curves for length, weight, head circumference, and weight vs height are provided. Long-term survival did not appear to be due to mosaicism. We found no adverse reactions attributable to immunizations. At age 1 year there was an average of approximately 2 operations per living child. We report the second case of successful major cardiac surgery in a trisomy 18 child. Almost 70% of deaths were attributed to cardiopulmonary arrest. The sibling recurrence risk for trisomy 18 or trisomy 13 was 0.55%.

Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment

“…Another populationbased study by Rasmussen et al [2003] showed that the presence of a congenital heart defect did not seem to affect survival. A support group-based study by Baty et al [1994] showed the major cause of death as cardiopulmonary arrest. The review by Carey, [2001] mentioned that central apnea, or its presence with a combination of other factors, was the primary pathogenesis of the increased infant mortality.…”

“…The ligation surgery improved heart failure and enabled the patient to be discharged and prolonged survival (553 days). To date, several case reports described five patients who underwent seven cardiac surgeries [Van Dyke and Allen, 1990;Baty et al, 1994;Teraguchi et al, 1997;Derbent et al, 2001]. Research by the Support Organization for Trisomy 18, 13 and Related Disorders (SOFT) Registry group found that eight of twelve patients who underwent cardiac surgery (seven intracardiac repairs and five palliative) survived to be discharged [Carey, 2001].…”

The health-care experiences of families given the prenatal diagnosis of trisomy 18

“…[1][2][3][4] The condition leads to many different developmental problems such as growth deficiency, feeding and breathing difficulties, developmental delays, and psychomotor mental retardation. 5 Recent studies document that 50% of liveborn infants with trisomy 18 survive beyond the first week of life, 1 with 5 to 10% surviving beyond the first year.…”

Examination of trisomy 13, 18 and 21 foetal tissues at different gestational ages using FISH

“…31 Mosaicism is most commonly found for chromosome 18 and these known mosaics have variable phenotypes from normal intellect to severe malformations. 32 The analysis of tissue-specific mosaicism is very difficult in living cohorts. Using interphase FISH on tissue samples from a deceased neonate with unexplained abnormalities, a 17% trisomy 18 line was found in liver but was not in lymphocytes, fibroblasts or kidney.…”