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Updated: Feb 6, 2026

Isolation of Leukocytes from the Human Maternal-fetal Interface
Published on: May 21, 2015
Detection of fetal trisomy 9 mosaicism by noninvasive prenatal testing through maternal plasma DNA sequencing
Chung-Yuan Lee1, Hsing-Ju Su2, Yu-Tzu Cheng2
1Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan; Department of Obstetrics and Gynecology, Chia-Yi Chang Gung Memorial Hospital, Chia-Yi, Taiwan; Department of Nursing, Chang Gung University of Science and Technology, Chia-Yi Campus, Chia-Yi, Taiwan.
Objective:
Noninvasive prenatal testing (NIPT) is widely used as a powerful screening tool to detect common aneuploidies. However, its application for detection of rare chromosomal abnormalities remains inconclusive.
Case Report:
A 38-year-old woman (gravida 2, para 0) requested NIPT as a primary screening test for fetal aneuploidies at 13 weeks and 1 day of gestation. An unexpected Trisomy 9 (T9) abnormality was highly suspected. Amniocentesis was arranged for further diagnosis at 18 weeks of gestation. Final karyotyping reported 47,XX,+9 [18]/46,XX [12], indicating 60% T9 mosaicism.
Conclusion:
This case shows strong evidence that NIPT can be a powerful screening tool to detect rare fetal trisomies at very early gestation.
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