Related Experiment Video
Updated: Jul 26, 2025
Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
Published on: September 7, 2021
A pilot study to screen the trisomy 13 from the amniotic fluid puncture
Junbei Xiang1, Linfeng Xie1, Mianxue Liu2
1Sichuan Nursing Vocational College, Chengdu, 610000, Sichuan, People's Republic of China.
Insights
This study introduces a new, cost-effective qPCR method to screen for Trisomy 13 (Patau syndrome). The developed algorithm accurately distinguishes Trisomy 13 samples, enhancing current prenatal screening strategies.
Area of Science:
- Genetics
- Molecular Biology
- Prenatal Diagnostics
Background:
- Trisomy 13 (Patau syndrome) is a severe congenital chromosomal abnormality.
- Current screening methods for Trisomy 13 require improvement for accuracy and accessibility.
- Advanced screening is crucial for managing pregnancies with high-risk fetuses, particularly those conceived by older mothers.
Discussion:
- This research developed a novel, cost-effective, and rapid quantitative PCR (qPCR) screening method for Trisomy 13.
- The method utilizes specific primers targeting genes on chromosomes 1, 2, X, Y, and 13, including LINC00458 on chromosome 13.
- A new mathematical algorithm was created based on qPCR data to effectively differentiate Trisomy 13 samples from normal samples.
Key Insights:
- Successfully established a Sybr green qPCR assay for Trisomy 13 screening.
- Developed and validated a novel algorithm capable of distinguishing Trisomy 13 from euploid samples.
- Demonstrated the potential of this method to complement and enhance existing Trisomy 13 screening protocols.
Outlook:
- The developed qPCR method offers a promising avenue for improving Trisomy 13 detection.
- Future research could explore broader applications of this algorithm in prenatal diagnostics.
- This pilot study paves the way for more accessible and efficient screening tools for chromosomal abnormalities.
Abstract:
Trisomy 13 (Patau syndrome) is a kind of congenital chromosomal abnormality disease. Trisomy 13 has high occurrence in fetuses or infants from the old aged pregnant women. Screening out the fetus with trisomy 13 early and avoiding the infant with trisomy 13 to be born is the main strategy in the care of delivery women with the fetus with trisomy 13. The current screening method is not perfect and has room to strengthen. In this study, we aimed to establish a method to strengthen the current screening methods, which would be cheap, fast and convenient. Technically, we obtained the commercially available genomic DNA extracted from the amniotic fluid puncture of the pregnant woman with the trisomy 13 fetus, 2 genomic DNA extracted from 2 healthy male (one adult and one teenager) and 1 genomic DNA extracted from 1 healthy adult female as the qPCR template DNAs and the commercially available Sybr green qPCR mater mix as the qPCR reaction liquid; we also designed and synthesized 5 pairs of qPCR primers, respectively, corresponding to IL-10 gene on 1# chromosome, STAT1 gene on 2# chromosome, CXCR3 gene on X chromosome, TSPY1 gene on Y chromosome and LINC00458 gene on 13# chromosome. We then performed Sybr green qPCR measurement. Further, we used the qPCR data to perform the mathematical calculation and finally formed a new algorithm. Using this new algorithm, we easily distinguished the trisomy 13 sample out of the normal samples. The method established this study could strengthen and complement the current methods. In conclusion, our study initiated a pilot study to screen the trisomy 13 and prospected some new directions for efforts.
