🧬 Lab Update 64: Introducing Prenatal Chromosomal Microarray Testing
📅 June 2025 | 🏥 Ampath Laboratories
🌐 ampath.co.za
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
1️⃣ CVS or 15–20ml amniotic fluid or 3ml cord blood
2️⃣ Maternal EDTA blood (to exclude maternal cell contamination)📝
Documentation
1️⃣ Completed prenatal genetic request form
2️⃣ 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