title: Intrauterine death in singleton pregnancies with trisomy 21, 18, 13 and monosomy X.
abstract: A retrospective study from November 2004 to May 2012, conducted at the Obstetric Clinic of Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), which included 92 singleton pregnancies with prenatal diagnosis of trisomy of chromosome 21 (T21), 18, 13 (T13/18) and monosomy X (45X), with diagnosis performed until the 26th week of pregnancy. The aim of the study was to describe the frequency and to investigate predictors of spontaneous fetal death (FD). Diagnosis (T21, n=36; T13/18, n=25; 45X, n=31) was made at a mean gestational age of 18.3±3.7 weeks, through chorionic villus biopsy (n=22,24%), amniocentesis (n=66, 72%) and cordocentesis (n=4, 4%). Major malformations were present in 45 (49%); with hydrops in 32 (35%) fetuses, more frequently in 45X [n=24/31, 77% vs. T21 (n=6/36, 17%) and T13/18 (n=2/25, 8%), p<0.001]. Specialized fetal echocardiography was performed in 60% (55/92). Of these, 60% (33/55) showed changes in heart morphology and/or function. Fetuses with T13/18 had a higher incidence of cardiac anomalies [60 vs. 25% (T21) and 29% (45X), p= 0.01]. FD occurred in 55 (60%) gestations, being more frequent in 45X [n=26/31, 84% vs. T21 (n=13/36, 36%) and T13/18 (n=16/25, 64%), p<0.01]. Stepwise analysis showed a correlation between hydrops and death in fetuses with T21 (LR= 4.29; 95CI=1.9-8.0, p<0.0001). In fetuses with 45X, the presence of echocardiographic abnormalities was associated with lower risk of FD (LR= 0.56; 95CI=0.27- 0.85, p=0.005). No predictive factors were identified in the T13/18 group. Intra- uterine lethality of aneuploid fetuses is high. Occurrence of hydrops increases risk of FD in pregnancies with T21. In pregnancies with 45X, the occurrence of echocardiographic changes reduces this risk.
authors.affiliation: Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
authors.forename: Vanessa Vigna
authors.initials: VV
authors.lastname: Goulart
authors.affiliation: Department of Gynecology and Obstetrics, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
authors.forename: Adolfo Wenjaw
authors.initials: AW
authors.lastname: Liao
authors.affiliation: Department of Gynecology and Obstetrics, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
authors.forename: Mario Henrique Burlacchini de
authors.initials: MH
authors.lastname: Carvalho
authors.affiliation: Department of Gynecology and Obstetrics, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
authors.forename: Maria de Lourdes
authors.initials: Mde L
authors.lastname: Brizot
authors.affiliation: Department of Gynecology and Obstetrics, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
authors.forename: Rossana Pulcineli Vieira
authors.initials: RP
authors.lastname: Francisco
authors.affiliation: Department of Gynecology and Obstetrics, FM, USP, São Paulo, SP, Brazil.
authors.forename: Marcelo
authors.initials: M
authors.lastname: Zugaib
mesh_terms: D000293:Adolescent; D000328:Adult; D025063:Chromosome Disorders / Q000150:complications* / Q000401:mortality; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D004314:Down Syndrome / Q000150:complications* / Q000401:mortality; D004452:Echocardiography / Q000379:methods; D005260:Female; D005313:Fetal Death / Q000209:etiology*; D005865:Gestational Age; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics; D008875:Middle Aged; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012044:Regression Analysis; D012189:Retrospective Studies; D012307:Risk Factors; D012737:Sex Factors; D018709:Statistics, Nonparametric; D014314:Trisomy; D000073839:Trisomy 13 Syndrome; D000073842:Trisomy 18 Syndrome; D014424:Turner Syndrome / Q000150:complications* / Q000401:mortality; D016216:Ultrasonography, Prenatal; D055815:Young Adult