Follow-up and pregnancy outcome after a diagnosis of mosaicism in CVS |
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| Authors: | A S P M Breed MD A Mantingh R Vosters J R Beekhuis J M M van Lith G J P A Anders |
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| Institution: | 1. Department of Obstetrics and Gynecology, University Hospital, Groningen, The Netherlands;2. Department of Obstetrics and Gynecology, Rijnstale Hospital, Arnhem, The Netherlands;3. Department of Human Genetics, State University of Groningen, Groningen, The Netherlands |
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| 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. |
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| Keywords: | Prenatal diagnosis Chorionic villus biopsy Discrepancy Mosaicism Fetal loss |
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