| Autor: |
Cecily A, Clark-Ganheart, Sara N, Iqbal, Donna L, Brown, Susan, Black, Melissa H, Fries |
| Rok vydání: |
2014 |
| Předmět: |
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| Zdroj: |
Journal of clinical gynecology and obstetrics. 3(2) |
| ISSN: |
1927-1271 |
| Popis: |
Circulating cell free fetal DNA (cffDNA) is an effective screening modality for fetal aneuploidy. We report two cases of false positive results. The first case involves a female, with self-reported Down syndrome. CffDNA returned positive for trisomy 18 leading to a maternal diagnosis of mosaicism chromosome 18 with normal fetal karyotype. The second case involves a patient with an anomalous fetal ultrasound and cffDNA positive for trisomy 13. Amniocentesis demonstrated a chromosome 8p duplication/deletion. False positive cffDNA may arise in clinical scenarios where diagnostic testing is clearly indicated. Practitioners should recognize the limitations of cffDNA. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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