Fetal chromosomal aneuploidy (eg, trisomy 21, monosomy X) genomic sequence analysis panel, circulating cell-free fetal DNA in maternal blood, must include analysis of chromosomes 13, 18, and 21
CPT4 code
Name of the Procedure:
Fetal Chromosomal Aneuploidy Genomic Sequence Analysis Panel (Commonly known as NIPT or Non-Invasive Prenatal Testing)
Summary
This procedure involves analyzing cell-free fetal DNA in the mother's blood to screen for chromosomal aneuploidies such as Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome). It is a non-invasive test, which poses minimal risk to the fetus compared to traditional prenatal diagnostic methods.
Purpose
The test is designed to detect specific chromosomal abnormalities in a developing fetus by analyzing small fragments of fetal DNA circulating in the mother's blood. The primary goals are early detection and aiding in decision-making for expectant parents.
Indications
- Pregnant women, typically after 10 weeks of gestation.
- Mothers aged 35 years or older.
- Abnormal results from other prenatal screening tests.
- Previous pregnancy with a chromosomal abnormality.
- Family history of certain genetic disorders.
Preparation
- No special preparations such as fasting are generally needed.
- Inform your healthcare provider about any medications you are taking.
- A routine blood draw is typically scheduled.
Procedure Description
- A blood sample is drawn from the mother's arm.
- The sample is sent to a laboratory where cell-free fetal DNA is extracted and analyzed using genomic sequencing techniques.
- The analysis focuses on chromosomes 13, 18, and 21 to look for any anomalies.
- Results are usually available within one to two weeks.
Duration
The blood draw itself takes about 10 minutes. The entire process, including waiting for lab results, typically takes 1-2 weeks.
Setting
This procedure is performed in an outpatient clinic or doctor's office.
Personnel
A phlebotomist or nurse collects the blood sample. Laboratory technicians and genetic counselors are involved in analyzing and interpreting the results.
Risks and Complications
- Minimal risks associated with the blood draw, such as bruising or slight pain.
- Very low risk of false positives or false negatives.
Benefits
- Early detection of chromosomal abnormalities with high accuracy.
- Non-invasive, posing no risk to the fetus.
- Helps expectant parents make informed decisions.
Recovery
- No specific recovery time is needed; normal activities can be resumed immediately.
- Follow-up consultations may be required to discuss the results.
Alternatives
- Traditional methods such as amniocentesis or chorionic villus sampling (CVS), which are invasive and carry higher risks of miscarriage but provide a definitive diagnosis.
- First-trimester combined screening (nuchal translucency scan and blood tests), which has lower accuracy compared to NIPT.
Patient Experience
- During the blood draw, you may feel a slight pinch or discomfort at the needle site.
- Post-procedure, there may be minimal bruising or soreness at the puncture site.
- Anxiety while waiting for results is common, but genetic counseling is often provided to help manage concerns.