Down Syndrome: what do pregnant women know about their individual risk? A prospective trial.

INTRODUCTION: 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. MATERIALS AND 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. DISCUSSION: 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.

Correlation of thyroid hormone, retinoid X, peroxisome proliferator-activated, vitamin D and oestrogen/progesterone receptors in breast carcinoma.

Non-steroidal nuclear receptors play a major role in breast cancer development. A correlation among, and possible prognostic function of, the members of the nuclear receptor superfamily has been discussed controversially over the years. Hence, we conducted a quantification of the different expression levels of the thyroid receptor (TR), retinoid X receptor (RXR), peroxisome proliferator-activated receptor (PPAR) and vitamin D receptor (VDR) in malignant breast tumour tissue samples. Patients diagnosed and treated for breast cancer between 1990 and 2000 were included. Receptor expression was detected by immunohistochemical staining. Correlation analyses for the expression of the receptors were performed for the clinical and histopathological data. The paraffin-embedded tissue from 82 breast cancer patients was available. The different steroid receptors showed varying results when correlated with known histopathological markers. TRα2 demonstrated the most significant correlations with steroid hormone receptors. Significant correlations between the major isoforms of TR, and between RXR, PPAR and VDR, were demonstrated in the patient sample. The immunohistochemical association of these receptors may provide the first proof of an interaction on the molecular level. This assumption awaits confirmation in studies with larger cohorts.

Biomechanics of the female pelvic floor: a prospective trail of the alteration of force-displacement-vectors in parous and nulliparous women.

OBJECTIVE: We hypothesize that the holistic and multiplanar depiction of pelvic floor structures by dynamic MRI is of particular value in rendering information about the extent of functional changes that can lead to pelvic floor dysfunction. METHODS: 134 women were prospectively included for assessment of their pelvic floor function. RESULTS: Study groups differed significantly in the direction of their force-displacement-vectors. A shift from ventral to dorsal is present depending on parity, mode of delivery and age. Maternal age and body height correlated to the force-displacement-vector, whereas maternal weight did not. Pressing direction proved to be dependent on the inclination of the pelvis and the aperture of the levator hiatus while remaining independent from the aperture of the abdominal wall. CONCLUSION: Biomechanical data interpretation uncovered the pathogenetic relevance of progressive retroflection of the force-displacement-vector. This is responsible for the onset of a vicious cycle of trauma-related force deflection perpetuating pelvic floor traumatization.