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Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...

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Infertility in Males

Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...

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Updated: Jun 6, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Genetic screening in couples experiencing recurrent assisted procreation failure.

Rima Dada¹, R Kumar, M B Shamsi

¹Laboratory of Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, 110029, India. rima_dada@rediffmail.com

Indian Journal of Biochemistry & Biophysics

|November 20, 2010

Summary

Genetic analysis is crucial for couples experiencing recurrent assisted reproduction technique (ART) failure. Identifying genetic abnormalities in 18.2% of cases can prevent further emotional and financial distress.

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Area of Science:

Reproductive Medicine
Human Genetics
Infertility Research

Background:

Infertility affects 10-20% of reproductive-age couples, with male factors implicated in 50% of cases.
Idiopathic male infertility and reduced testicular sperm function are common challenges.
Assisted reproduction techniques (ART), particularly intracytoplasmic sperm injection (ICSI), offer solutions but have limited success rates (18-25%).

Purpose of the Study:

To investigate the genetic basis of recurrent ART failure in couples with multiple failed cycles.
To identify specific genetic abnormalities contributing to idiopathic infertility and ART treatment failures.

Main Methods:

Recruitment of 110 couples with a history of 3 or more failed ART cycles.
Exclusion of non-idiopathic cases based on detailed medical history.
Performance of cytogenetic analysis and Yq microdeletion testing on enrolled couples.

Main Results:

Genetic abnormalities were identified in 19 out of 110 couples (18.2%).
These findings highlight a significant prevalence of underlying genetic factors in recurrent ART failure.
The study identified specific cytogenetic and Yq microdeletion abnormalities.

Conclusions:

A substantial proportion of recurrent ART failures are associated with detectable genetic abnormalities.
Comprehensive genetic screening is recommended for all couples undergoing ART to improve outcomes.
Early identification of genetic factors can mitigate emotional, physical, and financial burdens associated with repeated ART attempts.