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- W2897366238 abstract "The current study aims to describe the association between prenatal diagnosis of normal-sized hyperechogenic fetal kidneys, in whom 17q12 deletion syndrome was detected and the development of ASD. Over a period of nine years (2006–2015), in a single referral centre, 7 fetuses from 6 unrelated families (including one pair of twins) were diagnosed by prenatal sonography with hyperechogenic renal parenchyma and followed prospectively. A thorough sonographic anatomical survey and multidisciplinary consultation by geneticists and pediatric nephrologists were performed. Amniocentesis for molecular diagnosis was pursued in all cases, and subsequently five fetuses were found to harbour a 17q12 deletion by chromosomal microarray analysis (CMA). Postnatal evaluation was carried out by certified developmental neurologist. Five of the seven fetuses (50%) had molecular diagnosis of 17q12 deletion. One patient elected termination of pregnancy. On long-term follow-up of the four livebirths, all show symptoms consistent with neurodevelopmental disorders: three are currently diagnosed with ASD and one with mild motor disability. The fetuses with no deletion have a normal follow up with regression of the renal hyperechogenicity. We report for the first time the linkage between in utero hyperechogenic kidneys with molecular diagnosis of 17q12 microdeletions and postnatal development of ASD. This may pursue molecular diagnosis in fetuses with similar prenatal findings." @default.
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- W2897366238 date "2016-09-01" @default.
- W2897366238 modified "2023-09-23" @default.
- W2897366238 title "P25.04: Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism" @default.
- W2897366238 doi "https://doi.org/10.1002/uog.16741" @default.
- W2897366238 hasPublicationYear "2016" @default.
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