Prenatal Exome Sequencing

Precise genetic insights for informed pregnancy care

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What is Prenatal Exome Sequencing?

Prenatal exome sequencing is a next generation sequencing (NGS)–based test that examines the protein-coding regions of the genome, known as exons. Although exons make up only a small fraction of the genome, they harbour approximately 85% of known disease-causing mutations. At MedGenome, we provide a validated sequencing pipeline combined with a robust interpretation system to ensure accurate and reliable clinical diagnosis. Prenatal exome sequencing enables the identification of genetic disorders in the developing fetus, supporting informed decision-making and personalised prenatal care.

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Clinical Indications of Prenatal Exome Sequencing

In cases where prenatal clinical findings or family history is suggestive of an underlying genetic etiology
To confirm the suspected genetic diagnosis
To guide reproductive planning and assessment of recurrence risk

Specifications

Gene Count: Clinical Exome: 7,000+, Whole Exome: 20,000+, ExomeMAX: 20,000+.
Design Size: 29.2 Mb (Clinical Exome), 43.2 Mb (Whole Exome), 62.4 Mb (ExomeMAX).
On-Target Regions: On-Target Regions: 20 Mb (Clinical Exome), 36.5 Mb (Whole Exome), 47 Mb (ExomeMAX).
Mitochondrial Genes: Optional in Clinical & Whole Exome; included in ExomeMAX.
Variant Detection: SNVs, InDels & CNVs (all options).
Pathogenic Variants Reported: HGMD / ClinVar; non-coding variants included.
SAS-ATLAS Integration: Available in Clinical Exome and ExomeMAX.
CNV Sensitivity: High, with enhanced detection in Clinical Exome and ExomeMAX.
Validation Concordance: 100% across all platforms.

Types of Prenatal Exome Sequencing We Offer

Clinical Exome Sequencing

Sample: Maternal Blood, Amniotic fluid, Chorionic Villus Sample & DNA
TAT: 19 working days

Whole Exome Sequencing

Sample: Maternal Blood, Amniotic fluid, Chorionic Villus Sample & DNA
TAT: 19 working days

ExomeMAX

Sample: Maternal Blood, Amniotic fluid, Chorionic Villus Sample & DNA
TAT: 19 working days

Key Highlights of MedGenome's Prenatal Exome Sequencing Test

Broad Inheritance Coverage

Detects variants linked to autosomal dominant, autosomal recessive, and X-linked disorders.

Cost-Effective for Complex Disorders

An ideal first-line test for conditions with overlapping or unclear fetal presentations.

Validated Mutation Reporting

Reports pathogenic variants referenced in OMIM and HGMD and captures both reported and previously unidentified mutations that may cause disease.

High Diagnostic Yield

Delivers better results through deep coverage, accurate variant calling, and expert interpretation.

Genetic Counselling Support

Expert pre- and post-test genetic counselling to understand test results.

What is Prenatal Exome Sequencing?

Prenatal Exome Sequencing is a powerful prenatal genetic test that analyses the protein-coding regions (exons) associated with inherited diseases. It is used when structural abnormalities are detected in the fetus via ultrasound or when standard tests such as karyotype or chromosomal microarray return normal/inconclusive results. The test identifies disease-causing mutations to assist with diagnosis, parental counselling, and pregnancy management.

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How is Prenatal Exome Sequencing Done?

Step	Process
Sample Collection	Amniotic fluid or CVS from the fetus and maternal blood for Maternal cell contamination
DNA Extraction	Genomic DNA is isolated from the samples
Maternal Cell Contamination Testing (MCC)	Fetal DNA is checked to ensure purity.
Library Preparation	Targeted exons are enriched and prepared for sequencing
Sequencing	High-depth NGS (~80–100x coverage)
Data Analysis	Identification of SNVs, InDels, CNVs, and mitochondrial mutations
Reporting	Results interpreted and validated by a fetal geneticist

How Does Prenatal Exome Sequencing Differ From Whole Genome Sequencing (WGS)

While WGS sequences the entire genome, Prenatal Exome Sequencing focuses only on the exons, the 1–2% of the genome where ~85% of disease-causing mutations are found. This targeted approach offers a higher coverage of fetally relevant regions, increased diagnostic accuracy, faster turnaround time, and lower cost compared to WGS.

What Is the Methodology Behind Prenatal Exome Sequencing?

What Conditions Can Prenatal Exome Sequencing Diagnose?

Prenatal Exome Sequencing can help diagnose the genetic cause of a wide range of conditions, including:

Multiple congenital anomalies (MCA).
Skeletal dysplasias.
Cardiac structural defects.
Syndromic forms of developmental disorders.
Renal, craniofacial, neurological, and skeletal abnormalities.
Rare Mendelian disorders detectable prenatally.

How Does Prenatal Exome Sequencing Work?

Who Should Consider Undergoing The Prenatal Exome Sequencing Test?

Prenatal exome testing may be recommended when:

Structural anomalies are detected on prenatal ultrasound.
Results from karyotyping or microarray are normal or inconclusive.
There’s a history of previous pregnancies with congenital anomalies.
The couple is consanguineous, increasing the risk of recessive disorders.
Multiple anomalies are seen with no known cause.
There’s suspicion of a monogenic disorder based on phenotype.

What Do Prenatal Exome Sequencing Test Results Mean?

Why Choose MedGenome For Prenatal Exome Sequencing?

FAQs

How much does the Prenatal Exome sequencing test cost in India?
The cost of the prenatal exome sequencing test depends on the test type (single, trio, or carrier). Please contact MedGenome Labs for accurate pricing and applicable insurance or institutional rates.
What sample is used for Prenatal Exome sequencing?
Good-quality extracted DNA from amniotic fluid, chorionic villi, or products of conception is used for fetal exome testing, making it safe.
What is the turnaround time for Prenatal Exome sequencing?
The test typically takes 28 working days from the date of sample receipt to report generation, including sequencing, variant analysis, and fetal interpretation.
Are there risks associated with Prenatal Exome Sequencing?
The test is safe and non-invasive. The main challenge is interpreting uncertain variants, which may require follow-up tests or additional family analysis.
What are the latest advancements in Prenatal Exome Sequencing technology?
Modern exome tests now detect CNVs, non-coding mutations, and mitochondrial variants, improving accuracy, diagnostic yield, and enabling better interpretation across a wide range of rare diseases.
Can Prenatal Exome detect genetic mutations that are not present in the parents?
Yes. Prenatal Exome Sequencing can detect de novo mutations or new genetic changes not inherited from either parent, especially useful in unexplained developmental or neurological conditions.

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