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Updated: Aug 6, 2026
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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Non-invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative
Alexandros Sotiriadis1, Ioannis Papoulidis2, Elisavet Siomou2
1Second Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Prenatal Diagnosis
|April 14, 2017
Summary
Nearly half of abnormal array comparative genomic hybridization (aCGH) results are missed by non-invasive prenatal screening (NIPS). This highlights the limitations of NIPS and the importance of genetic counseling before testing.
Area of Science:
- Prenatal diagnostics
- Genetics
- Reproductive medicine
Background:
- Non-invasive prenatal screening (NIPS) is a common method for detecting fetal aneuploidies.
- Array comparative genomic hybridization (aCGH) is a more comprehensive diagnostic tool used in invasive prenatal testing.
- Limitations exist in NIPS, necessitating a comparison with aCGH findings.
Purpose of the Study:
- To determine the proportion of pathogenic array comparative genomic hybridization (aCGH) results that are undetectable by non-invasive prenatal screening (NIPS).
- To evaluate the diagnostic yield of aCGH compared to NIPS across various indications for prenatal diagnosis.
Main Methods:
- A comparative study analyzed data from 2779 fetuses undergoing invasive prenatal diagnosis with aCGH.
- A simulated NIPS assay was used to assess detectability of common aneuploidies (trisomies 21, 18, 13, etc.).
- Pathogenic/likely pathogenic aCGH results not detectable by simulated NIPS were calculated based on indications for testing.
Main Results:
- Overall, 5.0% of aCGH tests showed pathogenic/likely pathogenic results.
- A significant proportion, 44.0%, of these abnormal aCGH findings would not be detected by standard NIPS.
- Rates of undetectable abnormalities varied by indication, ranging from 28.0% for specific nuchal translucency measurements to 52.4% for second-trimester markers.
Conclusions:
- Approximately half of abnormal aCGH results are missed by current NIPS assays.
- This underscores the limitations of NIPS and the continued importance of pre-test genetic counseling.
- Invasive diagnostic testing with aCGH remains crucial for a comprehensive assessment of fetal genetic health.
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