Page 52 - ESHRE2019
P. 52
Practical data to manage prenatal diagnosis
When to confirm by amniocentesis a chromosomal abnormality observed at CVS?
❑ NOT SYSTEMATICALLY
❑ Trisomies 8, 9, 13, 18, 21
❑ Monosomy X
❑ Uniparental disomy testing:
❑ Trisomy 14 (paternal), trisomy 15 (Prader-Willi, Angelman), trisomy 7 (CFTR)
Mosaicism in ongoing pregnancies
Confined placental mosaicism
❑ Kalousek & Dill (Science, 1983)
❑ “Chromosomal abnormalities in the extraembryonic tissue which are absent from the fetal tissue”
❑ 1.18% CPM (177/15109) (Grati et al., 2006)
❑ Meiotic (‘fetal rescue’), or mitotic origin
❑ Influence on fetal phenotype ??
Short-term culture
Long-term culture
47
50
