Fetal Whole Exome Panel (with QF-PCR & MCC)

What Does a Fetal Whole Exome Panel with QF-PCR and MCC Measure?

This panel provides a detailed evaluation of fetal genetic health by combining multiple advanced molecular tests:

• Whole Exome Sequencing (WES): Detects mutations in genes linked to inherited and developmental disorders.
• QF-PCR: Rapidly screens for chromosomal aneuploidies involving chromosomes 13, 18, 21, X, and Y.
• MCC Testing: Verifies that the DNA tested is purely fetal by excluding maternal cell contamination.
• Mitochondrial Genome Sequencing: Helps identify mutations in mitochondrial genes that can cause energy metabolism disorders.

Fetal Whole Exome Panel with QF-PCR and MCC: Who Needs It and Why It’s Done

What Symptoms May Call for a Fetal Whole Exome Panel with QF-PCR and MCC?

Doctors may recommend this test during pregnancy when:

• Ultrasound detects fetal structural or multiple congenital anomalies.
• There is increased nuchal translucency in the first trimester.
• Standard karyotyping or chromosomal microarray results are normal but a genetic condition is still suspected.
• There is a family history of inherited genetic disorders.
• Previous pregnancies were affected by genetic abnormalities.

Who Should Get a Fetal Whole Exome Panel with QF-PCR and MCC?

This test is recommended for:

• Expectant mothers whose fetuses show unexplained anomalies on ultrasound.
• Couples with previous unexplained miscarriages or affected pregnancies.
• Parents with known genetic mutations or family history of congenital diseases.
• Clinicians managing complex fetal conditions requiring precise genetic diagnosis.

Why Is a Fetal Whole Exome Panel with QF-PCR and MCC Done?

This test helps identify the exact genetic variant responsible for fetal anomalies, ensuring accurate diagnosis, better pregnancy management, and informed counselling for future pregnancies.

Importance of a Fetal Whole Exome Panel with QF-PCR and MCC

This advanced test provides one of the most comprehensive evaluations of fetal genetics available today. By combining QF-PCR for rapid chromosomal assessment and Whole Exome Sequencing for detailed gene-level analysis, it offers:

• Accurate diagnosis of unexplained fetal anomalies.
• Confirmation of fetal DNA purity via MCC to avoid false results.
• Guidance for clinicians and genetic counsellors on prognosis and recurrence risk.
• Support for informed parental decisions in high-risk pregnancies.

Fetal Whole Exome Panel with QF-PCR and MCC Booking & Reports – Metropolis Healthcare

How to Book the Fetal Whole Exome Panel with QF-PCR and MCC and Get Your Reports

1. Simple Online Booking
   Book easily via the Metropolis Healthcare website or app. Choose the Fetal Whole Exome Panel with QF-PCR and MCC, select a preferred time, and provide details for sample collection.
2. Safe Sample Collection
   Sample collection is performed under medical supervision, typically using amniotic fluid, chorionic villi, or fetal tissue, along with maternal blood.
3. Sample Tracking Updates
   You can track your sample status directly through the Metropolis Healthcare platform from collection to testing.
4. Accurate Laboratory Testing
   All testing is carried out at NABL & CAP accredited Metropolis laboratories using advanced Next Generation Sequencing (NGS) and Fragment Analysis (FA) technology.
5. Quick & Secure Reports
   Receive your test reports through email, WhatsApp, or by logging in to the Metropolis Healthcare website or app.

Is Home Sample Collection for Fetal Whole Exome Panel with QF-PCR and MCC Available Near You?

For specialised genetic tests such as this, sample collection is done in a controlled medical environment. Metropolis ensures trained professionals handle your sample safely, maintaining integrity and confidentiality throughout the process.

How Long Does It Take to Get a Fetal Whole Exome Panel with QF-PCR and MCC Report?

Reports are typically available within 4 weeks once the sample reaches the laboratory.
Note: Reporting time and cost may vary based on your location.

Where Can I See or Get Fetal Whole Exome Panel with QF-PCR and MCC Results?

You can access your reports conveniently via the Metropolis Healthcare website or mobile app. Reports are also shared securely through email or WhatsApp. Physical copies can be collected directly from the nearest Metropolis lab.

Interpreting Fetal Whole Exome Panel with QF-PCR and MCC Results

What Your Fetal Whole Exome Panel with QF-PCR and MCC Results May Indicate

Understanding Abnormal Fetal Whole Exome Panel with QF-PCR and MCC Results by Parameter

How Should You Prepare for a Fetal Whole Exome Panel with QF-PCR and MCC?

This test involves a medically supervised procedure and requires some preparation:

• Consent: A signed Form G consent is mandatory as per PCPNDT regulations.
• Clinical Documents: Carry your ultrasound (USG), Dual and Quadruple Marker reports, and referral prescription.
• Sample Requirements: The test uses fetal material (amniotic fluid, chorionic villus, or tissue) and a maternal blood sample.
• Medication: Continue prescribed medications unless advised otherwise by your doctor.
• Hydration: You may eat and drink normally before the test.

How Is a Fetal Whole Exome Panel with QF-PCR and MCC Done? (Step-by-Step Procedure)

The test involves collecting fetal and maternal samples for advanced genetic analysis:

• Preparation: A healthcare specialist explains the procedure and obtains informed consent.
• Sample Collection: Amniotic fluid, chorionic villi, or fetal tissue is collected under sterile medical supervision, along with 3–5 ml of maternal blood.
• Processing: QF-PCR is performed first to detect chromosomal abnormalities and confirm fetal sample authenticity via MCC.
• Sequencing: Whole Exome Sequencing (WES) is then carried out using Next Generation Sequencing (NGS) technology to identify gene-level mutations.
• Analysis: Genetic experts interpret the data to determine pathogenic variants associated with fetal anomalies.

Conditions That May Affect Fetal Whole Exome Panel with QF-PCR and MCC Accuracy

Certain factors may influence test accuracy:

• Maternal Contamination: Mixing of maternal cells with fetal material can affect results.
• Insufficient Sample: Low-quality or inadequate sample volume may yield inconclusive findings.
• Improper Storage or Transport: Delays or temperature variations can compromise DNA integrity.
• Incomplete Documentation: Missing consent or clinical details can delay testing.

Diseases That a Fetal Whole Exome Panel with QF-PCR and MCC Can Help Detect

• Down syndrome (Trisomy 21)
• Edwards syndrome (Trisomy 18)
• Patau syndrome (Trisomy 13)
• Monosomy X (Turner syndrome)
• Single-gene disorders causing skeletal, cardiac, or neurological malformations
• Mitochondrial disorders affecting fetal development

References

1. Lord J., et al. (2019). Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE study): a cohort study. The Lancet, 393(10173), 747–757. PMID: 30712878
2. Petrovski S., et al. (2019). Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. The Lancet, 393(10173), 758–767. PMID: 30712877
3. Hillman S.C., et al. (2015). Exome sequencing for prenatal diagnosis of fetal structural anomalies: implications for clinical practice. Prenatal Diagnosis, 35(10), 1013–1018. PMID: 26173630
4. Meng L., et al. (2017). Use of exome sequencing for prenatal diagnosis of fetal structural anomalies. Prenatal Diagnosis, 37(12), 1220–1226. PMID: 29023773
5. Wapner R.J., et al. (2012). Chromosomal microarray versus karyotyping for prenatal diagnosis. New England Journal of Medicine, 367(23), 2175–2184. PMID: 23215555