We found a high rate of associated malformations, especially intestinal malformations. The systematic evaluation of the intestinal enzymes in the amniotic fluid and urine samples might be an important aid in the diagnosis of multiple malformations, such as cloacal dysgenesis.
Objectives: We evaluate the level of information and informed consent given for the screening of Down syndrome (DS) before the first-trimester ultrasound scan. We evaluate the nature of the medical information given and the patient’s understanding. This makes it possible to analyze the existence of the necessary elements (level of information and consent) for the patients to exercise their autonomy as to their decision making during the first-trimester ultrasound scan. Methods: A total of 350 patients were recruited prospectively in 2 hospitals. Patients were divided into 3 groups according to the results of maternal serum screening for DS. Group 1: Patients at high risk of having a child with DS with the second-trimester maternal serum screening (MSS) (risk >1/250). Group 2: Patients having a low risk (risk <1/250). Group 3: Patients who did not undergo maternal serum screening test. A questionnaire was completed before the medical consultation, to assess the quality of the medical consultation before the ultrasound, the level of prior knowledge and the maternal consent. Results: We excluded 45 of the 350 questionnaires from the analysis because they were incomplete (13.1%). We therefore analyzed a total of 305 questionnaires. The three groups analysed were: Group 1: 89 patients (29.2%) identified as at high risk after MSS. Group 2: 137 patients (44.9%) identified as at low risk accordingly to MSS. Group 3: 79 women (25.9%) who did not undergo maternal serum screening test for diverse reasons. The frequency of genuine informed consent was significantly (p < 0.001) higher in group 3 (56.9%) than in group 1 (52.8%) or group 2 (32.1%). Finally, the number of completely uninformed patients was significantly higher in group 2 (18%) than in the other two groups (7.8% for group 1 and 6.3% for group 3, p < 0.001). With multiple regression analysis, we found that maternal consent depended on 4 independent components: (1) Educational level (
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