2022
DOI: 10.1080/01443615.2022.2112023
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Prenatal diagnosis of cystic hygroma cases in a tertiary centre and retrospective analysis of pregnancy results

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“…First-trimester fetal cystic hygroma was the indication for invasive prenatal testing in some of the cases later detected with Xp22.31 imbalances. Cystic hygroma presents a high risk of aneuploidies [ 39 ]. Euploid fetuses with cystic hygroma also present an increased risk for submicroscopic CNVs [ 40 ] and specific monogenic disorders such as Rasopathies [ 41 ].…”
Section: Discussionmentioning
confidence: 99%
“…First-trimester fetal cystic hygroma was the indication for invasive prenatal testing in some of the cases later detected with Xp22.31 imbalances. Cystic hygroma presents a high risk of aneuploidies [ 39 ]. Euploid fetuses with cystic hygroma also present an increased risk for submicroscopic CNVs [ 40 ] and specific monogenic disorders such as Rasopathies [ 41 ].…”
Section: Discussionmentioning
confidence: 99%