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Chromosomal analysis using prenatal prenatal plasma/serum-based next-generation sequencing (NGS) with fluorescent in situ hybridization (FISH) for specific gene regions

Published: August 9, 2026Updated: August 16, 2026

This test evaluates genetic material from your blood sample to check for potential chromosomal or gene-related risks during pregnancy.

Quick summary

["Helps identify possible genetic conditions that may affect your baby’s health before birth."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
62347-0
Short code
Chrom analy prenatal pnl FISH
Synonyms
Chrom analy prenatal pnl FISH
Category
chemistry
Sample
serum
Container
Red-top tube (SST)
Units
N/A
Ref low
44
Ref high
147
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
fish
CPT
84075
SNOMED
27550007
Specimen volume
5 mL
Stability
Room temperature: 4h, Refrigerated: 24h, Frozen: 7d
Hemolysis max
500
Lipemia max
1000
Icterus max
500
TAT
4–24 hours
Order
routine

Why This Test Is Done

Prenatal chromosomal screening may be recommended if you’re at higher risk for conditions like Down syndrome, trisomy 13, or other genetic abnormalities. It can also be part of a routine check if you’re pregnant over 35 or have family history concerns.

How the Test Works

Blood is drawn to collect plasma or serum, which is then analyzed using advanced sequencing and fluorescent probes. This detects structural changes or missing/extra genetic material in specific chromosomes or genes.

Sample Preparation

You’ll need to fast for 8–12 hours before your blood draw, but hydration is encouraged. Avoid smoking or caffeine for 30 minutes before testing.

What to Expect During the Test

A healthcare provider will insert a needle into your arm to collect blood. The process takes about 5 minutes, and you may feel a brief pinch. Results are typically ready in 1–2 weeks.

Reference range

Adult: 44-147 U/LN/A

Specimen: serum

No special preparation required. Avoid fatty meals before the test if possible.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

This test identifies chromosomal abnormalities that could impact fetal development, such as missing or extra chromosomes (e.g., trisomy 21) or gene mutations linked to birth defects. Early detection allows for informed decision-making about prenatal care or interventions.

Short name

Prenatal chromosomal screening via NGS/FISH

Frequently asked questions

What are the most common conditions this test detects?
Common findings include chromosomal duplications/deletions (e.g., 21q-, 18p+), balanced translocations, or microdeletions in genes associated with developmental delays or congenital anomalies.
How does this differ from a standard amniocentesis or CVS test?
Unlike invasive procedures (amniocentesis/CVS), this test is non-invasive and uses blood, reducing risk. It focuses on specific genetic regions rather than full chromosomal analysis, making it less detailed but faster and safer for initial screening.
Can I get this test if I’m not at high risk?
Yes, some providers offer this test as a general prenatal screening option, especially if you’re interested in early genetic insights or have a family history of genetic disorders.
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This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy