Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling

Owen Phillips, A. T. Tharapel, J. L. Lerner, V. M. Park, S. S. Wachtel, L. P. Shulman

Research output: Contribution to journalArticle

52 Citations (Scopus)

Abstract

OBJECTIVE: Our purpose was to determine the risk of fetal mosaicism when placental mosaicism is found on chorionic villus sampling. STUDY DESIGN: We present a case of mosaic trisomy 22 detected on chorionic villus sampling and subsequently found in the fetus. A review of comprehensive chorionic villus sampling studies with emphasis on follow-up for fetal mosaicism was conducted. RESULTS: Among 13 studies reviewed, 469 cases of placental mosaicism are presented; fetal mosaicism was found in 50 (10.7%). Factors associated with fetal mosaicism are (1) mosaicism on mesenchymal core culture and (2) type of chromosome abnormality involved-specifically, marker chromosomes (26.7%) and common autosomal trisomies (19.0%). Amniocentesis predicted fetal genotype in 93% to 100% of cases of placental mosaicism, depending on the cell type in which mosaicism was diagnosed. CONCLUSIONS: Although mosaicism is usually confined to the placenta, the fetus is involved in about 10% cases. Patients should be counseled about this risk and the accuracy of follow-up amniocentesis.

Original languageEnglish (US)
Pages (from-to)850-855
Number of pages6
JournalAmerican Journal of Obstetrics and Gynecology
Volume174
Issue number3
DOIs
StatePublished - Jan 1 1996
Externally publishedYes

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Chorionic Villi Sampling
Mosaicism
Amniocentesis
Fetus
Sampling Studies
Trisomy
Genetic Markers
Chromosome Aberrations
Placenta
Genotype

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynecology

Cite this

Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling. / Phillips, Owen; Tharapel, A. T.; Lerner, J. L.; Park, V. M.; Wachtel, S. S.; Shulman, L. P.

In: American Journal of Obstetrics and Gynecology, Vol. 174, No. 3, 01.01.1996, p. 850-855.

Research output: Contribution to journalArticle

Phillips, Owen ; Tharapel, A. T. ; Lerner, J. L. ; Park, V. M. ; Wachtel, S. S. ; Shulman, L. P. / Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling. In: American Journal of Obstetrics and Gynecology. 1996 ; Vol. 174, No. 3. pp. 850-855.
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