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Sensitivity, Specificity, and Predicted Value

Sensitivity, Specificity, and Predicted Value

In healthcare diagnostics, laboratory tests play a crucial role in identifying and diagnosing a wide range of medical conditions. However, interpreting test results is not always straightforward. An abnormal test result does not always confirm the presence of a disease, just as a normal result does not guarantee its absence. To assess the reliability of these diagnostic tools, healthcare practitioners rely on two key statistical indicators: sensitivity and specificity.
Sensitivity is the...

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Updated: Jun 17, 2026

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions.

Siva Shantini Jayashankar¹, Muhammad Luqman Nasaruddin¹, Muhammad Faiz Hassan²

¹Department of Biochemistry, Faculty of Medicine, Universiti Kebangsaan Malaysia, Jalan Yaacob Latif, Bandar Tun Razak, Kuala Lumpur 56000, Malaysia.

Diagnostics (Basel, Switzerland)

|August 12, 2023

Summary

Non-invasive prenatal testing (NIPT) analyzes cell-free fetal DNA for common aneuploidies. This review examines NIPT

Keywords:

NIPT aneuploidy cell-free foetal DNA (cffDNA)next-generation sequencing obstetrics pregnancy prenatal testing trisomy

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FISH for Pre-implantation Genetic Diagnosis

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Published on: August 17, 2022

Area of Science:

Genetics
Molecular Biology
Prenatal Diagnostics

Background:

Non-invasive prenatal testing (NIPT) emerged in 1988.
Initially focused on detecting common aneuploidies like Down syndrome (T21), Patau syndrome (T13), and Edward syndrome (T18).
Advances in next-generation sequencing enabled analysis of cell-free fetal DNA (cffDNA) from maternal serum.

Purpose of the Study:

To review the reliability of non-invasive prenatal testing (NIPT).
To discuss current challenges in NIPT implementation across diverse global communities.
To highlight the growing integration of NIPT into national healthcare systems.

Main Methods:

Analysis of cell-free fetal DNA (cffDNA) extracted from maternal serum.
Utilizing next-generation sequencing technologies for genetic analysis.
Literature review and synthesis of existing research on NIPT reliability and challenges.

Main Results:

NIPT has demonstrated significant promise as a low-risk screening method.
Substantial global investment is being directed towards NIPT integration and standardization.
Ongoing research and consortia are working to refine NIPT protocols and applications.

Conclusions:

NIPT is a valuable tool for prenatal screening of common aneuploidies.
Addressing implementation challenges is crucial for equitable global access.
Continued research is essential to enhance NIPT's reliability and expand its scope.