2023
DOI: 10.1016/j.tjog.2023.03.008
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Low-level mosaic trisomy 9 at amniocentesis associated with a positive non-invasive prenatal testing for trisomy 9, maternal uniparental disomy 9, intrauterine growth restriction and a favorable fetal outcome in a pregnancy

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“…Complete trisomy 9 is typically associated with spontaneous abortion. Individuals with trisomy 9 seem either to die very early in embryonic life or survive to be born at term, many of the latter showing mosaicism ( Saura et al, 1995 ; Saneto et al, 1998 ; Chen et al, 2023a ). The prenatal diagnosis of trisomy 9 presents challenges in genetic counseling due to the need to differentiate between pseudo-mosaicism, fetal-placental discrepancy, and true trisomy 9.…”
Section: Discussionmentioning
confidence: 99%
“…Complete trisomy 9 is typically associated with spontaneous abortion. Individuals with trisomy 9 seem either to die very early in embryonic life or survive to be born at term, many of the latter showing mosaicism ( Saura et al, 1995 ; Saneto et al, 1998 ; Chen et al, 2023a ). The prenatal diagnosis of trisomy 9 presents challenges in genetic counseling due to the need to differentiate between pseudo-mosaicism, fetal-placental discrepancy, and true trisomy 9.…”
Section: Discussionmentioning
confidence: 99%