Lab Update 64: Introducing Prenatal Chromosomal Microarray Testing
June 2025
Ampath Laboratories is pleased to announce the launch of prenatal chromosomal microarray (CMA) testing, now available as part of our comprehensive prenatal diagnostic service offering.
What is CMA?
CMA provides a high-resolution, genome-wide assessment of copy number variations. It is recommended as a first-tier test for evaluating foetuses with structural anomalies detected on ultrasound.
This advanced test detects clinically significant sub-microscopic deletions and duplications that are not visible through conventional karyotyping—enhancing diagnostic accuracy and supporting informed prenatal decision-making.
Prenatal Chromosomal Microarray Information
Indications for Testing• Foetal structural anomalies (e.g. cardiac, CNS, skeletal)
• Increased nuchal translucency or soft markers for aneuploidy
• Unexplained intrauterine growth restriction (IUGR)
• Normal karyotype but suspicion of genetic condition
• Family history of chromosomal rearrangements
• Intrauterine foetal death / stillbirth (when common causes are excluded)
Test Mnemonic: ACGHPREN
Sample Requirements
1️. CVS or 15–20ml amniotic fluid or 3ml cord blood
2. Maternal EDTA blood (to exclude maternal cell contamination)
Documentation
1. Completed prenatal genetic request form
2. Signed patient consent
Turnaround Time: Two weeks (if sample is suitable for direct analysis—no culture needed)
Genetic Counselling Support
Pre- and post-test genetic counselling services are available.
Email: geneticsclinic@ampath.co.za
Phone: 012 678 0645