| Autor: |
Salari Z; Department of Obstetrics and Gynecology, School of Medicine, Neyshabur University of Medical Sciences, Neyshabur, Iran., Moradi A; Department of Molecular Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran., Moudi M; Healthy Ageing Research Center, School of Medicine, Neyshabur University of Medical Sciences, Neyshabur, Iran.; Department of Medical Biotechonology, School of Medicine, Neyshabur University of Medical Sciences, Neyshabur, Iran., Mousavi Z; Department of Obstetrics and Gynecology, School of Medicine, Neyshabur University of Medical Sciences, Neyshabur, Iran. |
| Abstrakt: |
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. |
