Molecular Karyotyping for Amniotic Fluid Test
Short Name: Molecular Karyotyping (Amniotic Fluid)
Also known as: Chromosomal Microarray Analysis (CMA) on Amniotic Fluid, Prenatal Karyotype
Molecular Karyotyping for Amniotic Fluid Test test available at DNA Labs India for ₹18,000. Uses Cell Culture, Chromosomal Microarray Analysis (CMA) on Amniotic Fluid samples. Results in Results are typically available within 7-9 days after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of molecular karyotyping for amniotic fluid is to detect chromosomal abnormalities in the fetus that may lead to genetic disorders such as Down syndrome, Edwards syndrome, Patau syndrome, and other microdeletion syndromes. It is also used to investigate structural rearrangements that may cause intellectual disability, congenital anomalies, or pregnancy loss. The test provides a high-resolution analysis of the fetal genome, enabling early diagnosis and informed decision-making.
- Test Code
- 6457
- CPT Code
- 88230
- ICD Code
- Z36.89
- Price
- ₹18,000
- Sample Type
- Amniotic Fluid
- Result Time
- Results are typically available within 7-9 days after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Cell Culture, Chromosomal Microarray Analysis (CMA)
Sample Collection
No special preparation is required. However, the patient should inform the healthcare provider about any medications, allergies, or bleeding disorders. The procedure is performed under ultrasound guidance to ensure safety.
Method: Amniocentesis (performed by obstetrician)
Laboratory Analysis
The patient lies on her back, and the abdomen is cleaned with an antiseptic. A thin needle is inserted through the abdominal wall into the amniotic sac, and a small amount of amniotic fluid is withdrawn. The procedure takes about 15-20 minutes and may cause mild cramping.
Report Delivery
After the procedure, the patient may experience mild cramping or spotting. It is advised to rest for 24 hours and avoid strenuous activities. Contact the doctor if there is fever, severe pain, or fluid leakage.
Timeline: Results are typically available within 7-9 days after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of molecular karyotyping for amniotic fluid is to detect chromosomal abnormalities in the fetus that may lead to genetic disorders such as Down syndrome, Edwards syndrome, Patau syndrome, and other microdeletion syndromes. It is also used to investigate structural rearrangements that may cause intellectual disability, congenital anomalies, or pregnancy loss. The test provides a high-resolution analysis of the fetal genome, enabling early diagnosis and informed decision-making.
How to Prepare
- Amniocentesis must be performed by a qualified obstetrician
- Ultrasound guidance is mandatory
- Sample should be collected in a sterile container and transported to the lab at room temperature
- Do not refrigerate or freeze the sample
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Molecular karyotyping is a sensitive tool for detecting submicroscopic chromosomal imbalances that may not be visible on traditional karyotyping. It is particularly valuable in pregnancies with abnormal ultrasound findings or when there is a family history of genetic disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient volume (<5 mL)
- Sample contaminated with maternal blood
- Sample not reaching lab within 48 hours
Understanding Your Results
Normal (46,XX or 46,XY)
No clinically significant chromosomal abnormalities detected. The risk of a chromosomal disorder is low.
Trisomy 21 (Down syndrome)
Presence of an extra copy of chromosome 21, associated with intellectual disability and characteristic facial features.
Trisomy 18 (Edwards syndrome)
Extra chromosome 18, often fatal within the first year of life, with severe developmental delays.
Trisomy 13 (Patau syndrome)
Extra chromosome 13, causing severe intellectual disability and physical defects, usually fatal in infancy.
Microdeletion (e.g., 22q11.2 deletion)
Deletion of a small segment of chromosome 22, associated with DiGeorge syndrome, cardiac defects, and immune deficiency.
Consult your obstetrician or genetic counselor if you have any risk factors, if the test results are abnormal, or if you have questions about the implications for your pregnancy.
Limitations
- ⚠Cannot detect all genetic disorders, such as single-gene mutations or balanced translocations without phenotypic effect
- ⚠May not detect low-level mosaicism (<10%)
- ⚠Results may be inconclusive in rare cases, requiring further testing
- ⚠Not a substitute for comprehensive genetic counseling
Risks & Considerations
- ●Miscarriage (risk <1%)
- ●Amniotic fluid leakage
- ●Infection
- ●Maternal cell contamination
- ●Fetal injury (rare)
Interfering Factors
- ●Maternal cell contamination in the amniotic fluid sample
- ●Insufficient fetal DNA due to low cell count
- ●Inadequate sample volume or improper handling
- ●Recent maternal blood transfusion (may cause mixed cell population)
- ●Fetal demise or tissue degradation
Compare With Similar Tests
| Test | Molecular Karyotyping for Amniotic Fluid Test | Traditional Karyotyping | Molecular Karyotyping (CMA) |
|---|---|---|---|
| Comparison | Molecular Karyotyping for Amniotic Fluid Test |
Frequently Asked Questions
What is molecular karyotyping for amniotic fluid?
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