title: Follow-up and pregnancy outcome after a diagnosis of mosaicism in CVS.
abstract: In 2103 consecutive diagnostic chorionic villus samples, examined in a 4-year period in our clinical genetics unit, 26 samples (1.2 per cent) presented chromosomal mosaicism in the direct and/or long-term culture preparations. Only once (46,XX/47,XX,+9) was the mosaicism confirmed in the fetus. In the cytogenetic follow-up studies of the remaining 25 pregnancies, in no cases could the aberration be confirmed in amniotic fluid or fetal tissue. One patient requested a termination after the CVS result. Of the remaining 24 pregnancies, four (16.7 per cent) ended in a spontaneous abortion. These findings suggest an association between placental mosaicism and fetal loss.
authors.affiliation: Department of Human Genetics, State University of Groningen, The Netherlands.
authors.forename: A S
authors.initials: AS
authors.lastname: Breed
authors.forename: A
authors.initials: A
authors.lastname: Mantingh
authors.forename: R
authors.initials: R
authors.lastname: Vosters
authors.forename: J R
authors.initials: JR
authors.lastname: Beekhuis
authors.forename: J M
authors.initials: JM
authors.lastname: Van Lith
authors.forename: G J
authors.initials: GJ
authors.lastname: Anders
mesh_terms: D000022:Abortion, Spontaneous / Q000209:etiology; D015193:Chorionic Villi Sampling; D005189:False Positive Reactions; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D009030:Mosaicism; D010920:Placenta / Q000473:pathology; D011247:Pregnancy; D011256:Pregnancy Outcome