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

1. A blood sample is drawn from the mother's arm.
2. The sample is sent to a laboratory where cell-free fetal DNA is extracted and analyzed using genomic sequencing techniques.
3. The analysis focuses on chromosomes 13, 18, and 21 to look for any anomalies.
4. 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.