Noninvasive prenatal testing for fetal trisomy in a mixed risk factors pregnancy population

• Main Authors: Wai-Hou Li (Author), Peng-Hui Wang (Author), Chi-Mu Chuang (Author), Yi-Wen Chang (Author), Ming-Jie Yang (Author), Chih-Yao Chen (Author), Kuan-Chong Chao (Author), Ming-Shyen Yen (Author)
• Format: Book
• Published: Elsevier, 2015-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

Objective: This study assesses the performance of noninvasive prenatal testing (NIPT) for fetal aneuploidies in a mixed risk factors pregnancy population. Materials and methods: Data review of 169 pregnant women undergoing prenatal aneuploidy screening in a single tertiary medical center was conducted. Indications included maternal anxiety, advanced maternal age, abnormal nuchal translucency, and high/moderate risk of first trimester Down syndrome screening. Multifetal pregnancies and patients receiving in vitro fertilization were also enrolled for analysis. Results: A total of 169 patients were enrolled in this study during a time period from July 2012 to June 2014. For patients' ≥ 34 years, anxiety about amniocentesis was the most common reason for patients selecting NIPT for fetal aneuploidy screening, with 107 (88.4%) patients choosing NIPT for this reason. Among the total patient population, two patients showed a positive result from NIPT. One patient displayed 47, XXY, which was confirmed to be a false-positive result. The other patient displayed trisomy 18, which was confirmed by an amniotic cell culture. The sensitivity for NIPT is 100% with the specificity 99.4%. Conclusions: NIPT for fetal aneuploidy in a mixed risk factors pregnancy population showed high accuracy. NIPT applied to the low risk population might reassure the anxious family.

Item Description

1028-4559
10.1016/j.tjog.2015.02.001