Microarray Analysis

A microarray analysis, also known as chromosomal microarray or SNP microarray, is a genetic test used by healthcare providers to detect chromosomal abnormalities in children.

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What is Microarray Analysis?

A microarray analysis, also known as chromosomal microarray or SNP microarray, is a genetic test used by healthcare providers to detect chromosomal abnormalities in unborn baby. This test looks at chromosomes, which are structures in our cells that contain thousands of genes made of DNA. These genes control our bodies’ growth, function, and characteristics.

Chromosome Basics

Humans usually have 46 chromosomes, which are organised in 23 pairs. Each pair contains one chromosome from the mother and one from the father. The first 22 pairs are identical in size and form in both genders. The 23rd pair, the sex chromosomes, determines genetic gender: females have two X chromosomes, while males have one X and one Y chromosome.

Why is the Test Done?

The microarray analysis detects chromosomal abnormalities that can cause medical conditions such as:

  • Developmental delays
  • Congenital anomalies
  • Genetic disorders

What Does the Microarray Test Detect?

  • Deletions: Missing chromosomal pieces
  • Duplications: Extra parts of a chromosome
  • Whole chromosome. Pairs From One Parent: Both chromosomes in a pair from the same parent
  • Large Similar Parts: Big parts of numerous chromosomes are identical.

This test does not detect every genetic disease or provide detailed information about specific genes. MCC testing ensures accuracy by checking for contamination from maternal cells.

How is the Test Done?

Amniocentesis

Procedure: A thin needle is inserted into the amniotic sac through the mother’s abdomen to collect amniotic fluid.

When: Typically between 16 and 20 weeks of pregnancy.

Safety: Generally safe, with a minimal risk of complications like miscarriage or infection.

Chorionic Villus Sampling (CVS)

Procedure: Using a needle, a sample of placental tissue (chorionic villi) is taken through the cervix or abdomen.

When: Usually between 10 and 13 weeks of pregnancy.

Safety: Generally safe, but slightly higher miscarriage risk compared to amniocentesis.

Blood Sample

Procedure: A small amount of blood is drawn from the mother’s vein.

Safety: Standard and safe with minimal risks.

Laboratory Process

  • DNA extraction is the process of obtaining DNA from collected samples.
  • DNA is analyzed with a microarray chip to find genetic variants.
  • MCC testing ensures no contamination from maternal cells, resulting in reliable results.
  • The baby’s DNA is compared to a standard control sample to detect chromosomal abnormalities.

Turnaround Time: 12-15 working days.

Who needs it?

  • Expectant parents, particularly those with risk factors such as advanced maternal age, abnormal ultrasounds, or a family history of genetic abnormalities.
  • Parents who have previously had a child with a genetic disorder should analyze their risks in subsequent pregnancies.
  • Couples with Abnormal Genetic Screening Results: Obtain a definitive diagnosis.

     

Is it safe?

Amniocentesis and CVS are both safe when performed by qualified healthcare experts.

Blood sampling is a routine and low-risk procedure.

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Frequently Asked Questions (FAQs)

Microarray analysis is an advanced genetic test used during pregnancy to detect chromosomal abnormalities in an unborn baby. It examines the baby’s DNA to identify missing or extra chromosome segments that may cause genetic or developmental conditions.

Yes, microarray analysis is more sensitive than traditional karyotyping. It can detect smaller chromosomal deletions or duplications that karyotyping may miss, making it a preferred test when detailed genetic information is needed.

Microarray testing is recommended when:

Ultrasound shows fetal abnormalities

First- or second-trimester screening results are abnormal

The mother is of advanced maternal age

There is a family history of genetic disorders

Previous pregnancy had a chromosomal abnormality

Microarray analysis can be done using:

Amniocentesis (16–20 weeks)

Chorionic Villus Sampling (CVS) (10–13 weeks)

Maternal blood sample (non-invasive option)

The collected sample is analyzed in a genetic laboratory using a microarray chip.

Yes.

Blood sampling is completely safe and non-invasive.

Amniocentesis and CVS are generally safe when performed by experienced specialists, with a very low risk of complications.

Microarray analysis can help detect conditions related to:

Developmental delay

Congenital anomalies

Intellectual disabilities

Genetic syndromes caused by chromosomal deletions or duplications

Microarray analysis does not detect:

Single-gene disorders

Very small mutations within individual genes

All inherited genetic diseases

Your doctor may recommend additional genetic tests if needed.

The usual turnaround time for microarray analysis results is 12–15 working days, depending on laboratory processing and sample type.


MCC (Maternal Cell Contamination) testing ensures that the DNA analyzed belongs to the baby and not the mother. This step improves accuracy and reliability of the microarray test results.

Microarray analysis is ideal for:

Expectant parents with abnormal screening results

Couples with a previous child affected by genetic conditions

Pregnancies with ultrasound-detected anomalies

Parents seeking a more detailed genetic evaluation

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