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CRISPR

CRISPR

Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced...

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Updated: Nov 23, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges.

Luigi Carbone¹, Federica Cariati^2,3, Laura Sarno¹

¹Dipartimento di Neuroscienze, Scienze Riproduttive ed Odontostomatologiche, Università di Napoli Federico II, 80131 Naples, Italy.

|December 30, 2020

Summary

Cell-free fetal DNA (cff-DNA) testing offers a new non-invasive method for prenatal screening of fetal aneuploidies. This review covers the current status, benefits, and drawbacks of cff-DNA screening for pregnant women.

Keywords:

cell-free fetal DNA fetal aneuploidies fetal fraction non-invasive prenatal testing prenatal screening

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Area of Science:

Genetics
Obstetrics
Molecular Biology

Background:

Fetal aneuploidies are a leading cause of pregnancy loss and developmental issues.
Prenatal diagnosis and screening methods have evolved significantly over 70 years.
Non-invasive prenatal testing (NIPT) using cell-free fetal DNA (cff-DNA) is emerging globally.

Purpose of the Study:

To provide a comprehensive overview of current cell-free fetal DNA (cff-DNA) testing.
To detail the strengths and limitations of cff-DNA screening for fetal aneuploidies.
To assess the role of cff-DNA in non-invasive prenatal screening.

Main Methods:

Narrative review of existing literature.
Analysis of the current state-of-the-art in cff-DNA testing.
Evaluation of clinical applications and performance data.

Main Results:

cff-DNA testing enables non-invasive prenatal screening for fetal aneuploidies.
The technology presents significant opportunities for early detection.
Specific limitations and challenges require careful consideration for clinical implementation.

Conclusions:

cff-DNA testing is a valuable tool for non-invasive prenatal screening of fetal aneuploidies.
Understanding its strengths and limitations is crucial for optimal use.
Further research and standardization are needed to maximize its potential.