Karyotyping - Blood (Wife)
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Used in the diagnosis of genetic diseases, infertility, recurrent miscarriages, birth defects, and hematologic malignancies
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🧬 What is Karyotyping – Blood (Wife)?
Karyotyping is a chromosomal analysis test that examines the number and structure of chromosomes in white blood cells (lymphocytes) from a blood sample.
For women, it is commonly ordered during:
- Recurrent miscarriage investigations
- Infertility evaluations
- Preconception genetic screening
- Assessment of menstrual abnormalities or developmental issues
❓ Why is the Test Done?
In women, this test helps:
- Detect balanced or unbalanced chromosomal translocations
- Identify conditions like Turner syndrome (45,X) or Triple X syndrome (47,XXX)
- Investigate primary amenorrhea, delayed puberty, or infertility
- Assess genetic risks to offspring
- Guide couples undergoing IVF/ART in case of repeated implantation failure
🧪 How the Test is Done
- A blood sample is taken from a vein.
- White blood cells are cultured and arrested during metaphase.
- Chromosomes are stained and viewed under a microscope.
- A karyogram is generated — a picture of the chromosome pairs.
📊 Normal Karyotype Result
Notation | Interpretation |
|---|---|
46, XX | Normal female karyotype |
📈 Interpretation of Abnormal Results
Result | Condition |
|---|---|
45, X | Turner syndrome (can cause infertility, short stature) |
47, XXX | Triple X syndrome (may be asymptomatic or mild effects) |
Balanced translocation | Often asymptomatic but may cause recurrent miscarriages |
Marker chromosomes | Small extra chromosomes; clinical effect varies |
Mosaicism | Presence of two different cell lines (e.g., 45,X/46,XX) |
🧠 Associated Organs & Conditions
System | Associated Conditions |
|---|---|
Reproductive | Infertility, primary ovarian insufficiency, PCOS |
Endocrine | Delayed puberty, amenorrhea |
Fetal risk | Risk of chromosomal abnormalities in offspring |
🔄 Related / Follow-Up Tests
- Karyotyping – Husband
- Anti-Müllerian Hormone (AMH) – for ovarian reserve
- FSH, LH, Prolactin, Estradiol – hormone evaluation
- Pelvic ultrasound
- FISH or Array CGH – for higher-resolution chromosomal analysis
✅ Fasting Required?
Test | Fasting Required |
|---|---|
Karyotyping – Blood | ❌ No |
📝 Summary Table
Parameter | Details |
|---|---|
What | Chromosome analysis from wife’s blood sample |
Why | Evaluate infertility, recurrent miscarriage, genetic disorders |
Normal Result | 46, XX |
Abnormal Findings | Turner syndrome, XXX, translocations, mosaicism |
Follow-up Tests | Hormonal panel, husband’s karyotype, FISH, CGH |
Associated Conditions | Infertility, amenorrhea, genetic risks to fetus |
Fasting Required | ❌ No |
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