title: Early filtration amniocentesis for further investigation of mosaicism diagnosed by chorionic villus sampling.
abstract: In 44 pregnancies where chorionic villus sampling (CVS) had shown mosaicism, early amniocentesis using a filter technique was carried out with the purpose of clarifying the fetal karyotype and reducing the waiting time for a final karyotype. Since the filter technique increases the cell yield of the amniotic fluid sample, it was hypothesized that this technique could be applied as soon as the mosaic CVS result was available, without compromising the culturing of the amniotic fluid cells. The mean gestational age at amniocentesis was 12.5 weeks and the mean gestational age at the time of the final karyotype was 13.9 weeks. All amniotic fluid sampling procedures and cultures were successful. Four pregnancies were terminated due to abnormal karyotypes (9.1 per cent). Two spontaneous abortions occurred in the second trimester (5.0 per cent), and one infant was lost at term due to unexplained intrapartum death. The total fetal loss rate was 7.5 per cent. This loss rate is concordant with other reported series where the outcome of pregnancies with placental mosaicism has been evaluated. We conclude that early amniocentesis with the filtration technique is a useful method for follow-up on CVS, mosaicism, providing results prior to 14 weeks of gestation.
authors.affiliation: Department of Clinical Genetics, Juliane Marie Center, National University Hospital, Copenhagen, Denmark.
authors.forename: K
authors.initials: K
authors.lastname: Sundberg
authors.forename: C
authors.initials: C
authors.lastname: Lundsteen
authors.forename: J
authors.initials: J
authors.lastname: Philip
mesh_terms: D000328:Adult; D000649:Amniocentesis / Q000379:methods*; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations; D005260:Female; D005374:Filtration / Q000295:instrumentation; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D011247:Pregnancy