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Intracytoplasmic sperm injection in infertile patients with structural chromosome abnormalities
J Testart1, E Gautier, C Brami
1Center for Reproductive Biology and Medicine, American Hospital of Paris, Neuilly, France.
Human Reproduction (Oxford, England)
|December 1, 1996
Summary
Intracytoplasmic sperm injection (ICSI) can lead to normal pregnancy rates in couples with severe male infertility and chromosomal translocations. However, pre-treatment cytogenetic analysis and prenatal diagnosis are crucial for managing genetic risks.
Area of Science:
- Human Genetics
- Reproductive Medicine
- Clinical Cytogenetics
Background:
- Severe male infertility often necessitates assisted reproductive technologies like intracytoplasmic sperm injection (ICSI).
- The impact of parental chromosomal abnormalities on ICSI outcomes and offspring requires thorough investigation.
Purpose of the Study:
- To evaluate the cytogenetic profiles of patients undergoing ICSI for severe male infertility.
- To assess the outcomes of ICSI treatments in couples with and without chromosomal anomalies.
- To determine the incidence and inheritance patterns of chromosomal abnormalities in conceptuses resulting from ICSI.
Main Methods:
- Cytogenetic analysis (karyotyping) was performed on male and female patients.
- Intracytoplasmic sperm injection (ICSI) was utilized for treatment.
- Fertilization rates, clinical pregnancy rates, and fetal karyotypes were analyzed.
Main Results:
- Abnormal karyotypes (structural chromosome anomalies) were identified in 4.2% of males and 1.2% of females.
- Chromosomal translocations were the most frequent anomaly, followed by inversions and marker chromosomes.
- No significant difference in fertilization or clinical pregnancy rates was observed between couples with normal and abnormal karyotypes.
- Among pregnancies from couples with chromosomal anomalies, a significant proportion of fetuses inherited parental defects.
- No de novo chromosomal abnormalities were detected in the ICSI-generated pregnancies.
Conclusions:
- Intracytoplasmic sperm injection (ICSI) can achieve normal pregnancy rates even in the presence of parental chromosomal translocations in cases of severe male infertility.
- Pre-treatment cytogenetic analysis is recommended for men with low sperm counts before ICSI.
- Genetic counseling, including prenatal diagnosis, is essential for all pregnancies conceived via ICSI, especially when parental chromosomal anomalies are present.