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A case of triploidy.

Ritu Dalmia¹, Peter Young, G V Sunanda

¹University Hospital of North Staffordshire, Stoke on Trent, UK. dalmiasanjay@hotmail.com

Fertility and Sterility

|February 12, 2005

Summary

This case report details triploidy, a genetic condition, in a woman who conceived via intracytoplasmic sperm injection (ICSI). The pregnancy was terminated after diagnosis of a 69XXY karyotype, likely due to diploid sperm fertilization.

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Area of Science:

Reproductive Medicine
Human Genetics
Prenatal Diagnosis

Background:

Intracytoplasmic sperm injection (ICSI) is an assisted reproductive technology used for treating infertility.
Triploidy, a chromosomal abnormality where cells have three sets of chromosomes instead of two, is typically lethal.
This case explores a rare instance of triploidy following ICSI.

Observation:

A 29-year-old woman underwent ICSI for conception.
Prenatal screening via ultrasound and serum markers, followed by amniocentesis, identified a 69XXY karyotype.
Postmortem examination confirmed the findings.

Findings:

The karyotype confirmed triploidy (69XXY), indicating an extra set of chromosomes.
The specific type of triploidy was diandric, suggesting fertilization involving a diploid sperm (carrying two sets of chromosomes).
The pregnancy was terminated following the diagnosis.

Implications:

This case highlights a potential, albeit rare, association between ICSI and specific chromosomal abnormalities like triploidy.
Understanding the mechanisms of triploidy, particularly those involving diploid sperm, is crucial for genetic counseling and reproductive technologies.
Further research may elucidate any specific risks or contributing factors related to ICSI and diploidy in sperm.

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