Chromosomal microarray (CMA)
SNP microarray for detection of copy number variants (deletions and duplications) at a resolution significantly higher than conventional karyotype. Used for developmental delay, autism, and congenital anomalies.
Clinical Area · Reproductive Genetics
Chromosomal and reproductive genetic testing
Reproductive genetics testing encompasses chromosomal microarray for developmental indications, pregnancy loss analysis, and selected genomic pathways for couples and families navigating reproductive decisions. Testing is coordinated through internationally accredited reference laboratories with local clinical support.
Pregnancy loss analysis
All-chromosome deletion/duplication analysis from products of conception. Provides a chromosomal explanation for miscarriage when available, supporting counseling and subsequent pregnancy planning.
Extended SNP microarray
The Bebegene panel covers hundreds of chromosomal abnormalities and over 1000 microdeletions/duplications — useful for broader chromosomal characterization when indicated.
Clinical indications
When to consider reproductive genetics testing
Developmental delay, intellectual disability, or autism spectrum disorder — CMA evaluation
Congenital anomalies identified prenatally or postnatally
Recurrent pregnancy loss — chromosomal analysis of products of conception
Couples undergoing IVF — preimplantation genetic testing pathway
Abnormal prenatal ultrasound findings requiring chromosomal context
Parental chromosomal rearrangement — offspring risk assessment
Available tests
Reproductive genetics tests through AC
3billion
Bebegene Extended (1001 Microdeletions)
SNP microarray covering hundreds of chromosomal abnormalities and 1001 microdeletions/duplications.
Specimen: EDTA whole blood
TAT: 10–14 days
EDGC
Chromosomal Microarray — EDGC (CMA)
Chromosomal microarray for developmental delay, autism spectrum disorder, congenital anomalies, and related indications.
Specimen: EDTA blood / gDNA / amniotic fluid
TAT: 12–18 days
EDGC
Pregnancy Loss (All Chromosome, NGS)
All-chromosome deletion/duplication analysis for products of conception and pregnancy loss evaluation. Confirm specimen type and collection requirements with the reference laboratory before sampling.
Specimen: Sample requirements vary by test and reference laboratory
TAT: 10–12 days
Result interpretation
What chromosomal test results mean
Chromosomal microarray and reproductive genetics results should be reviewed with the ordering clinician. Complex findings — particularly variants of uncertain significance — benefit from discussion with a clinical genetics specialist or genetic counsellor.
Pathogenic or likely pathogenic CNV
— Chromosomal copy number variant with established clinical significance
A deletion or duplication associated with a recognized chromosomal syndrome or meeting pathogenic criteria has been identified. Appropriate follow-up should include discussion with the ordering clinician and, in many cases, a clinical genetics referral. Biological relatives may be at risk and may benefit from targeted testing.
Variant of uncertain significance (VUS)
— Copy number change of unclear clinical impact
A chromosomal copy number variant has been detected but its clinical significance cannot currently be established. VUS findings should not drive clinical management decisions in isolation. VUS classification may be revised as population databases and published evidence expand. Parental testing may help clarify whether a VUS is inherited or de novo.
Benign or likely benign
— Copy number variant not clinically significant
The copy number variant detected is consistent with established benign polymorphisms or population-level variation and is not associated with the clinical indication. This category includes common copy number variants found at high frequency in unaffected individuals.
Reproductive genetics · clinical detail
Acceptance, limitations & reporting
General guidance to support ordering decisions. Specific thresholds, specimen requirements, and assay availability are confirmed per case with the reference laboratory before testing.
Sample acceptance criteria
- Specimen appropriate to the assay — products of conception, peripheral blood, or embryo biopsy per the PGT workflow — handled per the specimen guide.
- Relevant reproductive and clinical history; consent appropriate to the selected test.
Assay limitations
- Chromosomal microarray detects copy-number changes above its resolution but does not reliably detect balanced rearrangements or low-level mosaicism, and does not detect single-gene sequence variants unless specifically tested.
- Products-of-conception analysis can be limited by sample quality or maternal-cell contamination.
- PGT results are probabilistic and are confirmed with prenatal or postnatal diagnostic testing.
What's reportable
- Clinically significant copy-number variants and chromosomal abnormalities relevant to the indication.
- Copy-number variants of uncertain significance per the laboratory's policy.
- Result interpretation in the context of the reproductive history.
Findings are interpreted alongside clinical and reproductive history by the ordering team.
Reproductive genetics · common questions
Reproductive genetics — questions clinicians ask
How does chromosomal microarray differ from a karyotype?
Chromosomal microarray (CMA) detects copy-number variants — deletions and duplications — at a resolution far higher than a conventional karyotype, making it the first-line test for developmental delay, autism, and congenital anomalies. However, CMA does not detect balanced rearrangements (translocations, inversions) or low-level mosaicism, and does not detect single-gene sequence variants unless specifically tested; a karyotype or targeted assay may still be needed for those.
What can chromosomal analysis of a pregnancy loss show?
Analysis of products of conception can identify a chromosomal abnormality that explains a miscarriage, which supports counselling and subsequent pregnancy planning. Results can be limited by sample quality or maternal-cell contamination, and a normal result does not exclude non-chromosomal causes.
Are preimplantation genetic testing (PGT) results diagnostic?
No. PGT results are probabilistic and are confirmed with prenatal or postnatal diagnostic testing. They inform embryo selection but do not replace confirmatory testing during an established pregnancy.
How should a copy-number variant of uncertain significance be handled?
A VUS should not drive management decisions in isolation. Classification may be revised as population databases and published evidence expand, and parental testing can help clarify whether the variant is inherited or de novo. Uncertain findings benefit from discussion with a clinical genetics specialist or genetic counsellor.
Reproductive genetics
Discuss a case or set up a pathway
For IVF centers, obstetricians, and clinical genetics teams. Share the clinical indication and specimen type — AC will help identify the appropriate testing route.
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