Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011.
The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associated anomalies was reported in live births. The prevalence of trisomy 18 and trisomy 13 were 4.8 (95%CI: 4.7-5.0) and 1.9 (95%CI: 1.8-2.0) per 10,000 total births. Seventy three percent of cases with trisomy 18 or trisomy 13 resulted in a TOPFA. Amongst 468 live born babies with trisomy 18, 80% (76-83%) had a cardiac anomaly, 21% (17-25%) had a nervous system anomaly, 8% (6-11%) had esophageal atresia and 10% (8-13%) had an orofacial cleft. Amongst 240 Live born babies with trisomy 13, 57% (51-64%) had a cardiac anomaly, 39% (33-46%) had a nervous system anomaly, 30% (24-36%) had an eye anomaly, 44% (37-50%) had polydactyly and 45% (39-52%) had an orofacial cleft. For babies with trisomy 18 boys were less likely to have a cardiac anomaly compared with girls (OR = 0.48 (0.30-0.77) and with trisomy 13 were less likely to have a nervous system anomaly [OR = 0.46 (0.27-0.77)]. Babies with trisomy 18 or trisomy 13 do have a high proportion of associated anomalies with the distribution of anomalies being different in boys and girls.
Wolfson Institute, Queen Mary University of London, London, United Kingdom.
Anna
A
Springett
Faculty of Medicine, University of Southampton and Wessex Clinical Genetics Service, Southampton, United Kingdom.
Diana
D
Wellesley
Institute of Nursing Research, University of Ulster, Newtownabbey, United Kingdom.
Ruth
R
Greenlees
Institute of Nursing Research, University of Ulster, Newtownabbey, United Kingdom.
Maria
M
Loane
Division of Medical Genetics, Lausanne, Switzerland.
Marie-Claude
MC
Addor
Public Health Division of Gipuzkoa, Instituto BIO-Donostia, Basque Government, CIBER Epidemiologia y Salud Publica - CIBERESP, Spain.
Larraitz
L
Arriola
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Jorieke
J
Bergman
Rare Diseases Research Area, FISABIO-Public Health, Valencia, Spain.
Clara
C
Cavero-Carbonell
National Public Health and Medical Officer Service (NPHMOS), Budapest, Hungary.
Melinda
M
Csaky-Szunyogh
Department of Health Sciences, University of Leicester, Leicester, United Kingdom.
Elizabeth S
ES
Draper
Paediatric Department, Hospital Lillebaelt, Kolding, Denmark.
Ester
E
Garne
Department of Health Information and Research, Guardamangia, Malta.
Miriam
M
Gatt
Medical University of Graz, Graz, Austria.
Martin
M
Haeusler
INSERM, Paris, France.
Babak
B
Khoshnood
Department of Global Public Health and Primary Care, University of Bergen, Norway and Medical Birth Registry of Norway, Norwegian Institute of Public Health, Bergen, Norway.
Kari
K
Klungsoyr
Health Service Executive, Kilkenny, Ireland.
Catherine
C
Lynch
Centro de Estudos e registo de A C, Lisbon, Portugal.
Carlos Matias
CM
Dias
Health Service Executive, Dublin, Ireland.
Robert
R
McDonnell
Provincial Institute for Hygiene, Antwerp, Belgium.
Vera
V
Nelen
Health Service Executive, Cork, Ireland.
Mary
M
O'Mahony
CNR Institute of Clinical Physiology, Pisa, Italy.
Anna
A
Pierini
University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
Annette
A
Queisser-Luft
Institute of Health & Society, Newcastle University, Newcastle upon Tyne, United Kingdom.
Judith
J
Rankin
Medical Faculty Otto-von-Guericke University Magdeburg, Magdeburg, Germany.
Anke
A
Rissmann
University of Oxford, Oxford, United Kingdom.
Catherine
C
Rounding
St Michael's Hospital, Bristol, United Kingdom.
Sylvia
S
Stoianova
Public Health Wales, Swansea, United Kingdom.
David
D
Tuckerz
OMNI-Net Ukraine and Khmelnytsky Perinatal Center, Khmelnytsky, Ukraine.
Natalya
N
Zymak-Zakutnia
Wolfson Institute, Queen Mary University of London, London, United Kingdom.
Joan K
JK
Morris
D000293:Adolescent; D000328:Adult; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D005060:Europe / Q000453:epidemiology; D005260:Female; D005313:Fetal Death; D005865:Gestational Age; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009421:Nervous System Malformations / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D011296:Prenatal Diagnosis; D015995:Prevalence; D011379:Prognosis; D012042:Registries / Q000706:statistics & numerical data*; D013997:Time Factors; D014314:Trisomy / Q000235:genetics*; D000073842:Trisomy 18 Syndrome; D055815:Young Adult
Edwards syndrome; Patau syndrome; cardiac anomalies; trisomy 13; trisomy 18