| Autor: |
Zohre Salari, Arman Moradi, Mahdiyeh Moudi, Zohre Mousavi |
| Jazyk: |
English<br />Korean |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
Obstetrics & Gynecology Science, Vol 67, Iss 5, Pp 506-510 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2287-8580 |
| DOI: |
10.5468/ogs.24062 |
| Popis: |
Trisomy 9 is a rare chromosomal abnormality that occurs in both mosaic and non-mosaic states. The present study reports a case of mosaic trisomy 9 detected during pregnancy in a 41-year-old woman in the second trimester screening. Maternal serum screening results were used to diagnose a chromosomal abnormality in utero. The results were validated by karyotyping. High levels of alpha-fetoprotein and low levels of unconjugated estriol (uE3), human chorionic gonadotropin (hCG), and inhibin A indicate a high risk for chromosomal abnormalities, including trisomy 18. Amniotic fluid karyotyping revealed 47, XX, +9 (30)/46, XX (20) in the fetus. Because a high level (60%) of mosaicism for trisomy 9 in the fetus can affect many parts of the body, the pregnancy was terminated. It seems that a significant reduction in the levels of hCG and uE3 is an informative marker for the detection of chromosomal abnormalities such as trisomy 9. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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