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Updated: Jun 25, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Proteomic technologies for prenatal diagnostics: advances and challenges ahead.
Mahesh Choolani1, Kothandaraman Narasimhan, Varaprasad Kolla
1Diagnostic Biomarker Discovery Laboratory, Obstetrics and Gynaecology Department, National University Hospital, Singapore. obgmac@nus.edu.sg
Proteomics advances enable noninvasive detection of fetal abnormalities using maternal fluids. This promises faster diagnoses and interventions for pregnancy complications.
Area of Science:
- Biochemistry
- Genetics
- Obstetrics
Background:
- Proteomics has advanced significantly in identifying fetal abnormality biomarkers.
- Mass spectrometry techniques offer high sensitivity and require minimal bodily fluids.
Purpose of the Study:
- To review the emergence of proteomics in studying fetal conditions.
- To highlight the development of biomarkers for pregnancy-related disorders.
Main Methods:
- Utilizing mass spectrometry-based proteomics.
- Analyzing various maternal and fetal body fluids (plasma, amniotic fluid, etc.).
Main Results:
- Identification of potential biomarkers for fetal aneuploidy, preterm birth, preeclampsia, intra-amniotic infection, and fetal stress.
- Demonstration of proteomics' potential for noninvasive diagnostic approaches.
Conclusions:
- Proteomic approaches show promise for developing effective, noninvasive methods for diagnosing fetal conditions.
- These advancements could lead to same-day analyses and rapid interventions, potentially becoming standard care for feto-maternal health issues.
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