DISCORDANT DIRECT AND CULTURE RESULTS FOLLOWING CHORIONIC VILLUS SAMPLING AND THE DIAGNOSIS OF A THIRD CELL LINE IN THE FETUS
✍ Scribed by OWEN P. PHILLIPS; GOPALRAO V. N. VELAGALETI; AVIRACHAN T. THARAPEL; LEE P. SHULMAN
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 162 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0197-3851
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✦ Synopsis
We report a case of discordant non-mosaic karyotypes following chorionic villus sampling (CVS). A 45,XX,der(21;21)(q10;q10) karyotype was found on direct preparation of cytotrophoblasts and 46,XX was found on long-term culture of mesenchymal core cells. Analysis of amniotic fluid cells and fetal tissue revealed a third karyotype: 46,XX,+21,der(21;21)(q10;q10). Had only culture analysis been performed, follow-up studies might not have been undertaken. This case demonstrates the importance of direct CVS preparation in helping to identify fetal abnormalities, and the need for follow-up of discordant CVS results.