The aim of this study was to evaluate pre-scan counselling and the provision of information to parents-to-be, and their expectations before and experiences of a second trimester routine ultrasound scan. In the study, 303 pregnant women and their partners were asked to complete questionnaires before and after the scan. The main purposes of the examination were: dating, ascertaining fetal viability, and detection of multiple gestations. Although scanning for fetal malformations was not the purpose of the examination, 89% of the women and 84% of the men were concerned about this aspect. Even though it has been postulated that more women would not attend the examination if they knew it was for prenatal diagnostic purposes, the results of this study did not support this assumption. Only 57% of the women had received information at their antenatal care centers. A total of 88% of the women and 85% of the men said that they obtained sufficient information at the scan. Anxiety was low before the scan, both among women and men, with the exception of those women who had experienced problems at earlier scans. Positive feelings dominated during the scan and these feelings remained when experiences of the scan were reported by the parents-to-be after they had gone home. It is concluded that a routine second-trimester scan is a positive event for the majority of the participating women and men. In spite of this, we believe that certain measures should be taken to improve pre-scan counselling and the provision of adequate information.

To our knowledge, this is the first report showing that a mutation in MuSK is associated with FADS. The results support previous findings that CMS and/or FADS are caused by complete or severe functional disruption of components located in the AChR pathway. We propose that whereas milder mutations of MuSK will cause a CMS phenotype, a complete loss is lethal and will cause FADS.

When performing a second trimester ultrasound screening program, prenatal diagnosis of fetal anomalies will be part of the procedure whether this is a primary aim or not. It is therefore of great importance that the pregnant women receive adequate information and that the voluntariness of participation is stressed. In this study the sensitivity was low. Standardizing the scanning procedure (check-list for fetal anatomy) and improving the education of the operators are feasible ways to increase the sensitivity.

Reference values of the resistance indices from uncomplicated puerperium are needed when the diagnostic efficacy of Doppler ultrasound for pathological conditions is to be tested. This study confirms that the time needed for the vascular physiology to revert from a pregnant to a non-pregnant state appears to be longer than previously assumed.

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