title: Down Syndrome: what do pregnant women know about their individual risk? A prospective trial.
abstract: BACKGROUND
  Down Syndrome is the most common chromosomal abnormality causing intellectual disability in western countries. The incidence relates directly to maternal age. Mothers have to face two risks when prenatal diagnosis is concerned: the probability of a congenital aneuploidy in their fetus, on the one hand, and the procedure-related risk of an invasive prenatal intervention, on the other hand. Women need precise information to deal with these risks. The aim of the study was to evaluate women's knowledge about the individual risk of their fetus being affected by Down Syndrome.
  
  
  METHODS
  A structured questionnaire was distributed among all pregnant women who visited the prenatal care unit at Munich University Hospital, Campus Großhadern. Data evaluation was performed using Microsoft Excel 2003 and SPSS 12.0 for Windows. Statistical analysis was achieved by applying the Student t test, with statistical significance defined as p < 0.05.
  
  
  RESULTS
  The data of 237 out of 246 women (96 %) were analyzed. The median gestational age of the study group was 20 (5/7) weeks of gestation [range 5 (1/7)-38 (4/7)]. The median maternal age was 32 years (range 20-41). The collective consisted of 52 % nulliparous, 34 % primiparous and 14 % multiparous women. Their educational history varied with 57 % women who attended high school and 43 % secondary school. Seventy-eight percent (185/237) of these mothers were aware of the fact that a risk of fetal aneuploidy exists, but 22 % (51/237) had never even considered this as an individual risk in their fetus. Most study participants (84 %, 155/185) realized the risk of fetal aneuploidy before conception or at least in early pregnancy. Only 5 % (10/185) of women within late pregnancy considered a chromosomal abnormality as a forthcoming risk for the first time as late as in the second or third trimester. Overall, the women estimated the risk of Down Syndrome being present in their fetus in a ratio of 1:33 (range 1-9,000:10,000); 67 % overestimated the risk and 23 % underrated their individual risk by at least a factor of 2. Only 10 % of the women had a realistic idea (within double standard deviation) of their age-dependent specific risk (p < 0.001). The patient's self-risk assessment was influenced by factors such as personal experience (69 %), counseling by health-care professionals (19 %) or information from different media (19 %). The mother's self-risk assessment was independent of maternal age, education parity or gestational age.
  
  
  CONCLUSIONS
  Information transfer to patients concerning prenatal medicine is only successful to a certain extent, as pregnant women substantially overrate the risk of congenital handicaps in their fetuses. The need for a more comprehensive instruction of parents is not limited to particular subgroups. Health-care professionals and media are called upon to compensate for the apparent information deficits in parents and improve the public awareness of Down Syndrome.
authors: Department of Gynecology and Obstetrics, Kiel University Hospital, Arnold-Heller-Strasse 3, Building 24, 24105 Kiel, Germany. alexander.strauss@uksh.de
authors: Alexander
authors: A
authors: Strauss
authors: Ivo Markus
authors: IM
authors: Heer
authors: Fritz
authors: F
authors: Spelsberg
authors: Carolin
authors: C
authors: Strauss
mesh_terms: D000328:Adult; D000782:Aneuploidy; D001364:Awareness; D002869:Chromosome Aberrations; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics; D004522:Educational Status; D005260:Female; D005865:Gestational Age; D006801:Humans; D008423:Maternal Age; D010298:Parity; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000009:adverse effects; D011446:Prospective Studies; D012307:Risk Factors; D011795:Surveys and Questionnaires; D016216:Ultrasonography, Prenatal