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Mosaicism in ongoing pregnancies
True fetal mosaicism
❑ Chromosomal abnormality observed at amniocentesis
❑ Trisomies 8, 9, 13, 18, 21
❑ Gonosomes (45,X, 47,XXX, 47,XXY..) ❑ Surpernumerary markers
❑ <0.2% of prenatal diagnosis
❑ Abnormal phenotype (ultrasound+++)
Malevestiti et al., Prenat Diagn 2015
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PRECONGRESS COURSE 10 I VIENNA, AUSTRIA – 23 JUNE 2019 49
