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• W1974990500 abstract "Background Cardiac disorders are common in children with Down syndrome and the Down Syndrome Medical Interest Group (DSMIG) guidelines were updated in 2007. This project aims to review if parents thought these standards were being met. Methods A survey reflecting the guidelines was posted by the Down Syndrome Heart Group on their webpage and on facebook. Parent responders shared the page in order to more replies. The questionnaire was intended to identify when the diagnosis of Down Syndrome was made, and the time it took for a cardiologist referral and echocardiogram. Results 98 responses were collected and analysed. 85 responders lived in England (86.7%). 23.65% were diagnosed with Down syndrome prenatally, 70.25% were diagnosed within one week of birth and 6.1% more than one week after birth. 94.45% underwent foetal echocardiography of which 54.1% had the diagnosis confirmed after birth and 94.5% were seen by a paediatric cardiologist within 2 weeks after birth. Of those who did not undergo foetal echocardiography, 71.4% were seen within 6 weeks of birth, in whom 42.9% were found to have congenital heart disease. 73.4% of those diagnosed with Down syndrome within one week of age had an ECG at this time. Only 84% of those with abnormal ECG were referred and seen by a paediatric cardiologist before 2 weeks of age. 14.2% were not seen by a cardiologist or underwent ECG within 6 weeks. Conclusions The results of this parent led questionnaire show the majority of babies with Down syndrome are diagnosed within one week of birth. Most of the 2007 guidelines set by the DSMIG are being broadly met, however more emphasis should be made on meeting the deadlines for paediatric cardiology review and echocardiogram. This applies to whether diagnosis is made prenatally, within one week of birth or more than one week after birth. In addition only 73% of those that are diagnosed within a week undergo an immediate ECG. More importance needs to be based on adhering to the guidelines and reducing parental uncertainty about congenital heart disease in Down syndrome." @default.
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• W1974990500 date "2013-06-01" @default.
• W1974990500 modified "2023-09-28" @default.
• W1974990500 title "G84 A Parents View of Cardiac Screening For Down Syndrome" @default.
• W1974990500 doi "https://doi.org/10.1136/archdischild-2013-304107.096" @default.
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