Trisomy 13 and 18—Prevalence and mortality—A multi‐registry population based analysis

Abstract

The aim of the study is to determine the prevalence, outcomes, and survival (among live births [LB]), in pregnancies diagnosed with trisomy 13 (T13) and 18 (T18), by con-genital anomaly register and region. Twenty-four population- and hospital-based birth defects surveillance registers from 18 countries, contributed data on T13 and T18 between 1974 and 2014 using a common data-reporting protocol. The mean total birth prevalence (i.e., LB, stillbirths, and elective termination of pregnancy for fetal anomalies [ETOPFA]) in the registers with ETOPFA (n = 15) for T13 was 1.68 (95% CI1.3–2.06), and for T18 was 4.08 (95% CI 3.01–5.15), per 10,000 births. The prevalence varied among the various registers. The mean prevalence among LB in all registers for T13 was 0.55 (95%CI 0.38–0.72), and for T18 was 1.07 (95% CI 0.77–1.38), per 10,000 births. The median mortality in the first week of life was 48% for T13 and 42% for T18, across all registers, half of which occurred on the first day of life. Across 16 registers with complete 1-year follow-up, mortality in first year of life was 87% for T13 and 88% for T18. This study provides an international perspective on prevalence and mortality of T13 and T18. Overall outcomes and survival among LB were poor with about half of live born infants not surviving first week of life; nevertheless about 10% survived the first year of life. Prevalence and outcomes varied by country and termination policies. The study highlights the variation in screening, data collection, and reporting practices for these conditions.

Emerging evidence that medical and surgical interventions improve the survival and outcome in the trisomy 13 and 18 syndromes

“…The papers by Meyer et al and Nelson et al documented a more than a doubling of this 1‐year survival for both trisomy 13 and 18 syndromes and that the overwhelming majority of infants who survived to 1 year lived to 5 years. The paper by Goel et al, published in this issue of the Journal demonstrated a similar 1‐year survival in a large‐scale international study of collected data. Overall, about 12% of infants with both conditions survived to the first year of life.…”

A visual tool inclusive of fetal ultrasound and autopsy findings to reach a balanced approach to counselling on trisomy 18 in early second trimester

“…With the increase in the number of women delaying childbearing and the development of prenatal screening tests such as cell-free fetal DNA technologies, there is a parallel increase in the number T18 prenatal diagnoses [20]. Albeit it is characterized by variable clinical manifestations, with involvement of multiple organs and systems and counting more than 130 different anomalies, which may affect virtually all organs and systems, recent studies seem to encourage the shift from traditional palliative care to therapeutic procedures [8,34,38,39,44], with a parallel increases in survival rates (Fig. 8).…”

“…Additional information available in the literature regarding the use of a patient-centered care approach and the impact of surgical interventions on the long-term outcomes were also communicated [2,3,6,8,14,[25][26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44]. Following a painful decision-making process, a final request for therapeutic termination of pregnancy was made.…”

Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders

“…In contrast, live births occur for trisomies of chromosomes 13, 18, 21, X, and Y, owing to the smaller number of genes encoding proteins located on these chromosomes in comparison to the other autosomal chromosomes [14][15][16][17][18]. However, trisomy 13 and trisomy 18 have severe phenotypic consequences, which are rarely compatible with long-term survival [19][20][21][22]. Here, we address genome editing technology as a potential therapy for aneuploidy disorders.…”