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47,XXX karyotype obtained by amniocentesis
Obstetrics and Gynecology
|August 1, 1976
Summary
Genetic counseling identified a fetus with Triple X syndrome (47,XXX) in a pregnancy with a history of Down syndrome. The pregnancy was terminated after amniocentesis confirmed the fetal karyotype.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
Background:
- Genetic counseling is crucial for evaluating risks of chromosomal abnormalities in pregnancy.
- A family history of Down syndrome prompted genetic evaluation for a subsequent pregnancy.
Observation:
- Amniocentesis was performed during the pregnancy.
- Fetal karyotyping was conducted on amniotic fluid.
- Histologic examination of fetal tissue was performed.
Findings:
- The fetal karyotype was determined to be 47,XXX, indicating Triple X syndrome.
- Double Barr bodies were observed in fetal tissue sections, consistent with the XXX karyotype.
- Venous blood from the fetus confirmed the 47,XXX karyotype.
Implications:
- This case highlights the importance of accurate prenatal diagnosis for sex chromosome aneuploidies.
- Confirms the utility of karyotyping and Barr body analysis in prenatal genetic testing.
- Informs reproductive decisions for families with a history of chromosomal abnormalities.