Revised estimates of the risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18.
Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13) both have high natural fetal loss rates. The aim of this study was to provide estimates of these fetal loss rates by single gestational week of age using data from the National Down Syndrome Cytogenetic Register. Data from all pregnancies with Edwards or Patau syndrome that were prenatally detected in England and Wales from 2004 to 2014 was analyzed using Kaplan-Meier survival estimates. Pregnancies were entered into the analysis at the time of gestation at diagnosis, and were considered "under observation" until the gestation at outcome. There were 4088 prenatal diagnoses of trisomy 18 and 1471 of trisomy 13 in the analysis. For trisomy 18, 30% (95%CI: 25-34%) of viable fetuses at 12 weeks will result in a live birth and at 39 weeks gestation 67% (60-73%) will result in a live birth. For trisomy 13 the survival is 50% (41-58%) at 12 weeks and 84% (73-90%) at 39 weeks. There was no significant difference in survival between males and females when diagnosed at 12 weeks for trisomy 18 (P-value = 0.27) or trisomy 13 (P-value = 0.47). This paper provides the most precise gestational age-specific estimates currently available for the risk of fetal loss in trisomy 13 and trisomy 18 pregnancies in a general population.
Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK.
Alana
A
Cavadino
Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK.
Joan K
JK
Morris
D000025:Abortion, Eugenic / Q000706:statistics & numerical data; D000022:Abortion, Spontaneous / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002887:Chromosomes, Human, Pair 18; D004739:England / Q000453:epidemiology; D005260:Female; D046689:Fetal Mortality / Q000639:trends*; D005333:Fetus; D005865:Gestational Age; D006801:Humans; D050498:Live Birth / Q000453:epidemiology / Q000235:genetics; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012306:Risk; D050497:Stillbirth / Q000453:epidemiology / Q000235:genetics; D016019:Survival Analysis; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D000073839:Trisomy 13 Syndrome; D000073842:Trisomy 18 Syndrome; D014852:Wales / Q000453:epidemiology
fetal loss; trisomy 13; trisomy 18