Name of the Procedure:

Fetal Congenital Abnormalities Screening, Biochemical Assays of Five Analytes (AFP, uE3, Total hCG, Hyperglycosylated hCG, DIA) Utilizing Maternal Serum

Summary

This procedure involves a blood test from a pregnant woman to assess the risk of certain fetal congenital abnormalities. The maternal serum is analyzed for five specific biochemical markers, and the results are used to generate a risk score.

Purpose

The procedure aims to identify the risk of congenital abnormalities in a fetus. By analyzing maternal serum, healthcare providers can estimate the likelihood of conditions such as Down syndrome, trisomy 18, and neural tube defects.

Indications

• Pregnant women, typically between 15 to 20 weeks of gestation
• Patients with increased risk factors for fetal abnormalities (e.g., advanced maternal age, family history)
• Screening as part of routine prenatal care

Preparation

• No specific preparations required
• Routine blood sample collection
• Patients may be advised to inform their healthcare provider of any medications or supplements they are taking

Procedure Description

1. A blood sample is drawn from the patient's arm using a needle.
2. The sample is sent to a laboratory where it is analyzed for five biochemical markers: Alpha-fetoprotein (AFP), unconjugated estriol (uE3), total human chorionic gonadotropin (hCG), hyperglycosylated hCG, and dimeric inhibin-A (DIA).
3. The results of these assays are input into an algorithm that calculates a risk score for fetal congenital abnormalities.

Duration

The blood draw itself takes about 5-10 minutes. Results are typically available within a few days to a week.

Setting

The procedure is performed in an outpatient setting, such as a hospital, clinic, or doctor's office.

Personnel

• Phlebotomist or nurse to draw the blood sample
• Laboratory technicians to process and analyze the blood sample
• Obstetrician or maternal-fetal medicine specialist to interpret the results

Risks and Complications

• Minor discomfort or bruising at the blood draw site
• Rare risk of infection at the needle insertion site
• False-positive or false-negative results, necessitating further testing

Benefits

• Early identification of potential fetal congenital abnormalities
• Informed decision-making for expectant parents and healthcare providers
• Non-invasive and safe for both mother and fetus

Recovery

• No recovery time needed from the blood draw itself
• Patients can return to normal activities immediately
• Follow-up appointments for further testing or consultation if the risk score is elevated

Alternatives

• Detailed ultrasound (anomaly scan)
• Non-invasive prenatal testing (NIPT) for specific genetic conditions
• Invasive diagnostic tests such as amniocentesis or chorionic villus sampling (CVS)
• Pros and cons: Alternatives like NIPT are more specific but can be more costly. Invasive tests provide more definitive results but carry risks such as miscarriage.

Patient Experience

• The blood draw may cause slight discomfort or pain, similar to any routine blood test.
• Patients may feel anxious while waiting for results, but counseling and support are usually provided.
• Comfort measures include applying a warm compress to the draw site if bruising occurs and following up with healthcare providers for any concerns.