Chromosome analysis, amniotic fluid or chorionic villus, count 15 cells, 1 karyotype, with banding
CPT4 code
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
- Amniotic Fluid Sampling (Amniocentesis):
- A needle is inserted through the abdomen into the uterus to draw a small sample of amniotic fluid.
- Chorionic Villus Sampling (CVS):
- A small tissue sample from the placenta is obtained, either transcervically (through the cervix) or transabdominally (through the abdomen).
- 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.