Name of the Procedure:

Chromosome Analysis, Amniotic Fluid or Chorionic Villus, Count 15 Cells, 1 Karyotype, with Banding

• Common Name: Karyotyping
• Medical Term: Chromosomal Analysis with G-banding

Summary

Chromosome analysis of amniotic fluid or chorionic villus involves collecting a sample from a pregnant woman to examine the baby's chromosomes. This procedure helps identify genetic abnormalities or conditions.

Purpose

• Medical Condition Addressed: Genetic disorders and chromosomal abnormalities.
• Goals: To identify abnormalities such as Down syndrome, Patau syndrome, and other chromosomal anomalies.

Indications

• Pregnancy at advanced maternal age (≥35 years).
• Family history of genetic disorders.
• Abnormal results from non-invasive prenatal tests.
• Previous child or pregnancy with chromosomal abnormalities.
• Ultrasound findings suggestive of genetic syndromes.

Preparation

• Pre-procedure ultrasound to locate the fetus and amniotic fluid.
• No specific fasting or medication adjustments are typically needed unless advised by the healthcare provider.
• Detailed counseling about risks and benefits.

Procedure Description

1. Amniotic Fluid Sampling (Amniocentesis):
   • A needle is inserted through the abdomen into the uterus to draw a small sample of amniotic fluid.
2. Chorionic Villus Sampling (CVS):
   • A small tissue sample from the placenta is obtained, either transcervically (through the cervix) or transabdominally (through the abdomen).
3. Laboratory Analysis:
   • The sample cells are cultured.
   • Chromosomes are stained using a technique called G-banding.
   • Under a microscope, 15 cells are counted and analyzed for karyotypic abnormalities.

Duration

• The sampling procedure takes approximately 30 minutes.
• Laboratory analysis and results can take 1-2 weeks.

Setting

• Performed in a hospital or specialized outpatient clinic equipped with ultrasound and laboratory facilities.

Personnel

• Obstetrician or maternal-fetal medicine specialist.
• Trained nurse or medical technician.
• Laboratory geneticist or cytogeneticist.

Risks and Complications

• Common Risks: Mild discomfort or cramping, minor bleeding, leakage of amniotic fluid.
• Rare Risks: Infection, preterm labor, miscarriage.

Benefits

• Accurate diagnosis of chromosomal abnormalities.
• Enables informed decision-making regarding the pregnancy.
• Early detection of genetic conditions allows for better management and planning.

Recovery

• Rest and avoid strenuous activities for 24 hours post-procedure.
• Follow-up ultrasound to ensure fetal well-being.
• Normal activities can usually resume the following day unless advised otherwise.

Alternatives

• Non-invasive prenatal testing (NIPT) with cell-free fetal DNA.
• Ultrasonography for structural anomalies.
• Each alternative varies in accuracy and risk, with some offering less diagnostic certainty but also lower risk.

Patient Experience

• Patients may feel anxious during and after the procedure; emotional support is important.
• Pain is generally minimal but can be managed with over-the-counter pain relief if necessary.
• Patients should report any severe pain, fever, or heavy bleeding to their healthcare provider immediately.