AI Article Synopsis
- The study evaluated the effectiveness of karyotyping via amniocentesis compared to next generation sequencing (NGS)-based noninvasive prenatal DNA testing (NIPT) for detecting fetal chromosomal disorders.
- A total of 2,267 high-risk pregnant women underwent NIPT, with 29 positive results leading to follow-up amniocentesis, which confirmed diagnoses in 20 cases.
- Results showed that NIPT demonstrated high sensitivity and specificity for identifying conditions like trisomy 21, 13, and 18, suggesting that using NGS alongside traditional methods enhances the accuracy of prenatal diagnosis.
Article Abstract
Objective: The present study aimed to evaluate and analyze the results of karyotyping by amniocentesis and next generation sequencing (NGS)-based noninvasive prenatal DNA testing (NIPT) for the prenatal diagnosis of fetal chromosomal disorders.
Methods: A total of 2267 high-risk pregnant females with the indications for prenatal diagnosis who met the enrollment criteria between January 2015 and May 2019 at the Affiliated Hospital of Inner Mongolia Medical University were included and underwent NGS-based NIPT in the present study. Amniocentesis, chromosome karyotyping by cell culture, and follow-up of the pregnancy outcomes were also conducted in the NIPT-positive pregnant females to assess the consistency between NIPT and results of karyotyping by amniocentesis.
Results: Among the 2267 cases, 29 cases were positive for NIPT, including 10 cases with a high risk of trisomy 21, 2 cases with a high risk of trisomy 18, 2 cases with a high risk of chromosome 13, and 20 cases with sex chromosome abnormalities. All the above NIPT-positive cases underwent amniocentesis, and 20 cases were eventually diagnosed. The sensitivity and specificity of NIPT for the diagnosis of trisomy 21, trisomy 13, and trisomy 18 were 100%, 99.96%, 100%, and 99.96%, 100%, 100%, respectively, and the positive predictive values were 91.67%, 66.67%, and 100%, respectively.
Conclusion: NGS of the fetal free DNA from the peripheral blood of pregnant females was an important complement to the prenatal diagnosis of chromosomal disorders represented by fetal chromosome aneuploidy with high sensitivity and specificity. In combination with the traditional karyotyping by amniocentesis, it could improve the diagnostic efficacy for fetal chromosomal disorders.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8132573 | PMC |
| http://dx.doi.org/10.2147/IJGM.S297585 | DOI Listing |
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