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Apert syndrome is a rare congenital malformation syndrome characterized by the triad of cutaneous and progressive bony syndactyly, midfacial hypoplasia and craniosynostosis. Two missense mutations of the gene encoding the fibroblast growth factor receptor 2 (FGFR2) have been implicated in most cases. We report a case of Apert syndrome detected on prenatal ultrasound. Postnatal genetic analysis showed, for the first time, that the previously reported P253R mutation of the FGFR2 gene is also prevalent in southeast Europe. After prenatal sonographic detection of anomalies suggestive of Apert syndrome, parents should be counselled about prognosis and risk of recurrence, and the option of amniocentesis should be offered.

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Objective: The aims of this study were: (1) to explore pregnant women’s background knowledge and expectations of 2nd trimester ultrasound screening, and (2) to investigate women’s intentions to proceed to pregnancy termination if fetal anomaly is detected at the 2nd trimester ultrasound screening. Methods: A prospective, cross-sectional, questionnaire-based study. 300 consecutive pregnant women served as a convenience sample for this study. All the women had had a detailed, 2nd trimester, fetal anomaly scan. The questionnaire was a standardized but not validated, purpose-built structure consisting of five parts: (a) demographics, (b) anamnesis and obstetric history, (c) perceived aim of the scan, (d) expectations from the scan, and (e) intention to terminate pregnancy in case of fetal malformation diagnosis. Statistical analysis was performed with the SPSS 12.0 for Windows. Results: The participants’ mean age was 31.3 (21–45) years. 89.3% of the women filled in the questionnaire. The main reasons for the scan, according to the women, were to exclude fetal abnormalities and to assess the fetal karyotype. The main maternal expectations from the scan were to reduce maternal anxiety and to identify fetal malformations. 75.3% of the women were willing to terminate their pregnancy if fetal abnormalities were detected. Older women more commonly opted for pregnancy termination. Conclusion: The majority of participants have a correct notion about the aim of the ultrasound scan, their expectation is mainly anxiety reduction and a high percentage would proceed to pregnancy termination in the event of the detection of a fetal abnormality.