title: Isolated echogenic foci in the fetal heart: do they increase the risk of trisomy 21 in a population previously screened by nuchal translucency?
abstract: OBJECTIVE
  To confirm the hypothesis that isolated cardiac echogenic foci at the second-trimester anomaly scan do not influence our current calculation of risk of trisomy 21 in individual pregnancies, which is based on maternal age and nuchal translucency thickness at 11-14 weeks.
  
  
  METHODS
  Observational study in a fetal medicine unit.
  
  
  METHODS
  In a general pregnant population undergoing first-trimester nuchal translucency screening, data from 239 singleton pregnancies with isolated cardiac echogenic foci at the second-trimester anomaly scan were compared with those of a control group of 7449 pregnancies with normal anomaly scans. Prevalence of trisomy 21 was determined in both groups. Following the anomaly scan, the individual risks of trisomy 21 were calculated by adjusting the previous risk based on maternal age and first-trimester nuchal translucency. We assumed that echogenic foci did not alter each individual risk calculation. The expected number of cases of Down syndrome in both groups was then calculated from the sum of probabilities of each individual affected fetus. The observed number of cases was compared with the expected number in both study and control populations.
  
  
  RESULTS
  There was no statistically significant difference between the prevalence of trisomy 21 in the study group (no cases) and in the control population (three cases). From individual risk calculations, observing no cases of trisomy 21 in the study group was the most likely event if echogenic foci did not increase the risk of this chromosomal abnormality (P = 0.62).
  
  
  CONCLUSIONS
  The finding of isolated echogenic foci at the time of the 20 week-scan does not significantly change the risks of trisomy 21 if background risk and previous nuchal translucency measurements are taken into account in the individual risk calculation. We suggest that no further adjustments to risk should be used.
authors.affiliation: Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Royal Brompton and Harefield Hospital, Sydney Street, London SW3 6NP, UK.
authors.forename: F
authors.initials: F
authors.lastname: Prefumo
authors.forename: F
authors.initials: F
authors.lastname: Presti
authors.forename: E
authors.initials: E
authors.lastname: Mavrides
authors.forename: A F
authors.initials: AF
authors.lastname: Sanusi
authors.forename: J M
authors.initials: JM
authors.lastname: Bland
authors.forename: S
authors.initials: S
authors.lastname: Campbell
authors.forename: J S
authors.initials: JS
authors.lastname: Carvalho
mesh_terms: D000328:Adult; D015415:Biomarkers; D004314:Down Syndrome / Q000000981:diagnostic imaging*; D004452:Echocardiography; D005260:Female; D005318:Fetal Heart / Q000000981:diagnostic imaging*; D006801:Humans; D015994:Incidence; D008423:Maternal Age; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D018566:Pregnancy, High-Risk; D012307:Risk Factors; D016216:Ultrasonography, Prenatal
chemical_list: D015415:Biomarkers