Publication

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

Goel, N., Morris, J. K., Tucker, D., de Walle, H. E. K., Bakker, M. K., Kancherla, V., Marengo, L., Canfield, M. A., Kallen, K., Lelong, N., Camelo, J. L., Stallings, E. B., Jones, A. M., Nance, A., My-Phuong Huynh, Martinez-Fernandez, M-L., Sipek, A., Pierini, A., Nembhard, W. N., Goetz, D., Rissmann, A., Groisman, B., Luna-Munoz, L., Szabova, E., Lapchenko, S., Zarante, I., Hurtado-Villa, P., Martinez, L. E., Tagliabue, G., Landau, D., Gatt, M., Dastgiri, S. & Morgan, M., 30-Sep-2019, In : American Journal of Medical Genetics. Part A. 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

APA

Goel, N., Morris, J. K., Tucker, D., de Walle, H. E. K., Bakker, M. K., Kancherla, V., ... Morgan, M. (2019). Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis. American Journal of Medical Genetics. Part A. https://doi.org/10.1002/ajmg.a.61365

Author

Goel, Nitin ; Morris, Joan K. ; Tucker, David ; de Walle, Hermien E. K. ; Bakker, Marian K. ; Kancherla, Vijaya ; Marengo, Lisa ; Canfield, Mark A. ; Kallen, Karin ; Lelong, Nathalie ; Camelo, Jorge L. ; Stallings, Erin B. ; Jones, Abbey M. ; Nance, Amy ; My-Phuong Huynh ; Martinez-Fernandez, Maria-Luisa ; Sipek, Antonin ; Pierini, Anna ; Nembhard, Wendy N. ; Goetz, Dorit ; Rissmann, Anke ; Groisman, Boris ; Luna-Munoz, Leonora ; Szabova, Elena ; Lapchenko, Serhiy ; Zarante, Ignacio ; Hurtado-Villa, Paula ; Martinez, Laura E. ; Tagliabue, Giovanna ; Landau, Danielle ; Gatt, Miriam ; Dastgiri, Saeed ; Morgan, Margery. / Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis. In: American Journal of Medical Genetics. Part A. 2019.

Harvard

Goel, N, Morris, JK, Tucker, D, de Walle, HEK, Bakker, MK, Kancherla, V, Marengo, L, Canfield, MA, Kallen, K, Lelong, N, Camelo, JL, Stallings, EB, Jones, AM, Nance, A, My-Phuong Huynh, Martinez-Fernandez, M-L, Sipek, A, Pierini, A, Nembhard, WN, Goetz, D, Rissmann, A, Groisman, B, Luna-Munoz, L, Szabova, E, Lapchenko, S, Zarante, I, Hurtado-Villa, P, Martinez, LE, Tagliabue, G, Landau, D, Gatt, M, Dastgiri, S & Morgan, M 2019, 'Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis', American Journal of Medical Genetics. Part A. https://doi.org/10.1002/ajmg.a.61365

Standard

Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis. / Goel, Nitin; Morris, Joan K.; Tucker, David; de Walle, Hermien E. K.; Bakker, Marian K.; Kancherla, Vijaya; Marengo, Lisa; Canfield, Mark A.; Kallen, Karin; Lelong, Nathalie; Camelo, Jorge L.; Stallings, Erin B.; Jones, Abbey M.; Nance, Amy; My-Phuong Huynh; Martinez-Fernandez, Maria-Luisa; Sipek, Antonin; Pierini, Anna; Nembhard, Wendy N.; Goetz, Dorit; Rissmann, Anke; Groisman, Boris; Luna-Munoz, Leonora; Szabova, Elena; Lapchenko, Serhiy; Zarante, Ignacio; Hurtado-Villa, Paula; Martinez, Laura E.; Tagliabue, Giovanna; Landau, Danielle; Gatt, Miriam; Dastgiri, Saeed; Morgan, Margery.

In: American Journal of Medical Genetics. Part A, 30.09.2019.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

Goel N, Morris JK, Tucker D, de Walle HEK, Bakker MK, Kancherla V et al. Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis. American Journal of Medical Genetics. Part A. 2019 Sep 30. https://doi.org/10.1002/ajmg.a.61365


BibTeX

@article{1189d7114c5e4128af9412af7cf4ae40,
title = "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 congenital 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{\%} CI 1.3-2.06), 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.",
keywords = "congenital anomaly register, Edwards syndrome, Patau syndrome, trisomies, trisomy 13, trisomy 18, DOWN-SYNDROME, MATERNAL AGE, TRISOMIES 13, PREVALENCE, CHILDREN, SURVIVAL, EXPERIENCE, ENGLAND, TRENDS",
author = "Nitin Goel and Morris, {Joan K.} and David Tucker and {de Walle}, {Hermien E. K.} and Bakker, {Marian K.} and Vijaya Kancherla and Lisa Marengo and Canfield, {Mark A.} and Karin Kallen and Nathalie Lelong and Camelo, {Jorge L.} and Stallings, {Erin B.} and Jones, {Abbey M.} and Amy Nance and {My-Phuong Huynh} and Maria-Luisa Martinez-Fernandez and Antonin Sipek and Anna Pierini and Nembhard, {Wendy N.} and Dorit Goetz and Anke Rissmann and Boris Groisman and Leonora Luna-Munoz and Elena Szabova and Serhiy Lapchenko and Ignacio Zarante and Paula Hurtado-Villa and Martinez, {Laura E.} and Giovanna Tagliabue and Danielle Landau and Miriam Gatt and Saeed Dastgiri and Margery Morgan",
year = "2019",
month = "9",
day = "30",
doi = "10.1002/ajmg.a.61365",
language = "English",
journal = "American Journal of Medical Genetics. Part A",
issn = "1552-4825",
publisher = "Wiley",

}

RIS

TY - JOUR

T1 - Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis

AU - Goel, Nitin

AU - Morris, Joan K.

AU - Tucker, David

AU - de Walle, Hermien E. K.

AU - Bakker, Marian K.

AU - Kancherla, Vijaya

AU - Marengo, Lisa

AU - Canfield, Mark A.

AU - Kallen, Karin

AU - Lelong, Nathalie

AU - Camelo, Jorge L.

AU - Stallings, Erin B.

AU - Jones, Abbey M.

AU - Nance, Amy

AU - My-Phuong Huynh, null

AU - Martinez-Fernandez, Maria-Luisa

AU - Sipek, Antonin

AU - Pierini, Anna

AU - Nembhard, Wendy N.

AU - Goetz, Dorit

AU - Rissmann, Anke

AU - Groisman, Boris

AU - Luna-Munoz, Leonora

AU - Szabova, Elena

AU - Lapchenko, Serhiy

AU - Zarante, Ignacio

AU - Hurtado-Villa, Paula

AU - Martinez, Laura E.

AU - Tagliabue, Giovanna

AU - Landau, Danielle

AU - Gatt, Miriam

AU - Dastgiri, Saeed

AU - Morgan, Margery

PY - 2019/9/30

Y1 - 2019/9/30

N2 - 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 congenital 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% CI 1.3-2.06), 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.

AB - 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 congenital 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% CI 1.3-2.06), 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.

KW - congenital anomaly register

KW - Edwards syndrome

KW - Patau syndrome

KW - trisomies

KW - trisomy 13

KW - trisomy 18

KW - DOWN-SYNDROME

KW - MATERNAL AGE

KW - TRISOMIES 13

KW - PREVALENCE

KW - CHILDREN

KW - SURVIVAL

KW - EXPERIENCE

KW - ENGLAND

KW - TRENDS

U2 - 10.1002/ajmg.a.61365

DO - 10.1002/ajmg.a.61365

M3 - Article

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

SN - 1552-4825

ER -

ID: 99699511