NIPT with Microdeletions is an advanced non-invasive prenatal blood test that analyzes cell-free fetal DNA (cfDNA) present in the mother's blood to screen for chromosomal aneuploidies across all 23 chromosome pairs, along with selected clinically significant microdeletions. The test can be performed from 10 weeks of pregnancy onward.

This expanded screening panel is designed for families and healthcare providers who want more comprehensive prenatal chromosomal screening beyond the common trisomies covered in standard NIPT. It provides additional information about selected chromosomal conditions while maintaining the safety and convenience of a simple maternal blood test.

What Does NIPT with Microdeletions Screen For?

This test screens for:

• Trisomy 21 (Down syndrome)

• Trisomy 18 (Edwards syndrome)

• Trisomy 13 (Patau syndrome)

• Sex chromosome abnormalities

• Chromosomal aneuploidies across all 23 chromosome pairs

• Selected clinically significant microdeletion syndromes

Why Is This Test Recommended?

You may need this test to:

• Obtain broader prenatal chromosomal screening

• Assess pregnancies considered higher risk based on maternal age or previous screening results

• Receive expanded screening beyond the common trisomies included in basic NIPT

• Support clinician-guided evaluation when detailed chromosomal screening is preferred

• Gain additional information to help guide pregnancy management and follow-up testing

Who Should Consider This Test?

Your healthcare provider may recommend NIPT with Microdeletions if you have:

• Maternal age of 35 years or older

• High-risk findings on first-trimester screening

• Abnormal ultrasound findings

• A personal or family history of chromosomal abnormalities

• A previous pregnancy affected by a genetic condition

• A desire for more comprehensive prenatal screening

Why Do I Need NIPT with Microdeletions?

This test provides a broader assessment of fetal chromosomal health than standard NIPT by screening for selected microdeletions in addition to common trisomies. It helps identify pregnancies that may benefit from further evaluation while avoiding the risks associated with invasive diagnostic procedures.

Advantages of NIPT with Microdeletions

NIPT with Microdeletions offers several benefits:

• Can be performed from 10 weeks of pregnancy

• Requires only a simple maternal blood sample

• Screens all 23 chromosome pairs for chromosomal aneuploidy

• Includes selected clinically significant microdeletion syndromes

• High accuracy for common trisomies

• No risk of miscarriage associated with the screening procedure

• May reduce unnecessary invasive testing in low-risk pregnancies

How Do I Prepare for the Test?

• No fasting is required.

• The test should be performed after 10 completed weeks of pregnancy.

• Pregnancy duration should ideally be confirmed by ultrasound before testing.

• Stay well hydrated before the blood sample is collected.

• Discuss the scope and limitations of expanded screening with your healthcare provider.

How Is the Test Performed?

The procedure involves a simple maternal blood draw:

• The healthcare provider confirms eligibility and obtains consent.

• A 10 mL blood sample is collected from a vein in the mother's arm.

• The sample is sent to a our laboratory for cell-free fetal DNA analysis.

• Results are generally available within 15 working days.

What Happens After the Test?

• You can resume your normal daily activities immediately after the blood draw.

• Mild bruising at the collection site may occur.

• Your healthcare provider will review the report with you once the results are available.

• If the result is low risk, routine prenatal care generally continues.

• If the result is high risk, confirmatory diagnostic testing may be recommended.

When Should I Consult a Doctor After the Test?

Contact your healthcare provider if:

• Your report shows a high-risk result

• The laboratory issues a no-call or inconclusive result

• You need help understanding your report

• Your doctor recommends additional testing or genetic counseling

Risks Associated with the Test

NIPT with Microdeletions is extremely safe because it requires only a maternal blood sample and poses no direct risk to the fetus.

However:

• It is a screening test, not a diagnostic test.

• Positive or high-risk results require confirmatory diagnostic testing.

• Screening for microdeletions generally has lower predictive performance than screening for common trisomies.

• False-positive and false-negative results are possible.

Lifestyle Tips During Pregnancy

• Continue taking prenatal vitamins as prescribed.

• Eat a balanced, nutritious diet.

• Stay physically active as advised by your doctor.

• Avoid smoking, alcohol, and recreational drugs.

• Attend all scheduled prenatal appointments.

What Does the Test Measure?

The test analyzes cell-free fetal DNA circulating in the mother's bloodstream to screen for:

• Trisomy 21, Trisomy 18, and Trisomy 13

• Sex chromosome abnormalities

• Chromosomal abnormalities across all 23 chromosome pairs

• Selected clinically significant microdeletion syndromes

What Do the Results Mean?

• Low Risk: The likelihood of the screened chromosomal conditions is low.

• High Risk: Increased likelihood of one or more screened conditions; confirmatory diagnostic testing is recommended.

• No-Call: Insufficient fetal DNA or other technical factors may require repeat testing or additional evaluation.

What Should I Do If My Results Are Abnormal?

• Consult your obstetrician or genetic specialist.

• Contact us for genetic counselling.

• Discuss confirmatory testing, such as chorionic villus sampling (CVS) or amniocentesis.

• Follow your healthcare provider's recommendations regarding pregnancy management.

Can the Results Be Affected by Other Factors?

Yes. Test performance may be affected by:

• Low fetal fraction

• Maternal obesity

• Multiple pregnancy

• Vanishing twin

• Certain maternal medical conditions, including maternal malignancies

• Early gestational age

Factors That May Affect Test Accuracy

• Low fetal DNA fraction

• Pregnancy before 10 completed weeks

• Multiple gestation

• Maternal obesity

• Sample quality issues

• Maternal malignancies

Frequently Asked Questions (FAQs)

1. Is NIPT with Microdeletions a diagnostic test?

No. It is a screening test. Positive results should always be confirmed with diagnostic testing.

2. Is fasting required before the test?

No. Fasting is not required.

3. When can this test be performed?

The test can be performed from 10 completed weeks of pregnancy onward.

4. Does this test detect all genetic disorders?

No. It screens for selected chromosomal aneuploidies and clinically significant microdeletions but cannot detect every genetic condition.

5. How long does it take to receive the results?

Results are generally available within 15 working days.

6. Are microdeletion results as accurate as trisomy screening?

No. Screening for microdeletions generally has lower predictive performance than screening for common trisomies.

7. What happens if my result is high risk?

Your healthcare provider will usually recommend genetic counseling and confirmatory diagnostic testing, such as CVS or amniocentesis.