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- W4387260400 abstract "Zellweger syndrome (ZS), also known as Cerebro-hepato-renal syndrome, is a rare lethal autosomal recessive inherited disorder characterised by the absence/reduction of functional peroxisomes in cells. ZS was reported in association with increased nuchal translucency (NT) and fetal akinesia in the first trimester. A 29-years-old woman, G1P0 was referred to our centre due to suspected clubfeet on ultrasound at 13 weeks of gestation. A level 2 ultrasound revealed increased nuchal translucency (NT 4.3mm), micrognathia, cleft palate, clubfeet, ascites and decreased fetal movements. Chorionic villus sampling was performed and no chromosomal abnormality identified by chromosomal microarray (CMA). Next, whole-exome sequencing identified that the fetus had compound heterozygous frame-shift mutations (NM_002857.4:c.154_155del and NM_002857.4:c.152del) on PEX19 gene, consistent with clinical presentation of ZS. Both frame-shift mutations were then confirmed in paternal and maternal samples by Sanger sequencing. Detection of thick NT and fetal akinesia on prenatal ultrasound should prompt WES analysis to rule out ZS and associated genetic conditions. Because this syndrome is usually lethal and high recurrent risk, prenatal diagnosis and genetic counselling are crucial for planning care in future pregnancies. To the best of our knowledge, this is the first prenatal case of ZS with detailed first trimester ultrasound features and confirmed by exome sequencing being reported in literature. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article." @default.
- W4387260400 created "2023-10-03" @default.
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- W4387260400 date "2023-10-01" @default.
- W4387260400 modified "2023-10-18" @default.
- W4387260400 title "OP16.05: Prenatal diagnosis of Zellweger syndrome: a unique case report suggested by level II ultrasound in first trimester" @default.
- W4387260400 doi "https://doi.org/10.1002/uog.26570" @default.
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