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Genetic Testing in Female Infertility

Genetic testing is not needed for every woman with infertility, but it is recommended in specific situations. The basic test is a karyotype: a blood test that counts and examines the chromosomes.

Human karyotype (chromosomes)

When is genetic testing recommended?

  • Suspected Turner syndrome (missing or altered X chromosome), for example with absent periods, short stature or very early ovarian failure.
  • Premature ovarian insufficiency (periods stopping before 40): karyotype and Fragile X (FMR1) premutation testing are recommended.
  • Recurrent miscarriage: karyotype of both partners, ideally after testing the pregnancy tissue, to look for balanced translocations.
  • Severe male factor: the male partner may need karyotype, Y-chromosome microdeletion and cystic fibrosis testing (covered in the male infertility chapters).

Couples who are carriers of a genetic condition can avoid passing it on through IVF with preimplantation genetic testing (PGT-M or PGT-SR). Wider carrier screening is also available, especially for couples who are related by blood.


International Guidelines

In line with global standards, Dr. Sabry follows the latest recommendations from the American Society for Reproductive Medicine (ASRM), European Society of Human Reproduction and Embryology (ESHRE), and Royal College of Obstetricians and Gynaecologists (RCOG). Thus, patients receive care that is safe, ethical, and evidence-based.

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Why Choose Dr. Ashraf Sabry?

Dr. Ashraf Sabry, consultant in obstetrics, gynecology, fertility, and aesthetic gynecology, is recognized among the best OBGYN and fertility specialists in Cairo. With over 20 years of experience, he combines science and compassion to provide world-class care. Book your appointment through the contact page, WhatsApp, or call +201022224442.

This chapter is for medical education and does not replace an examination and consultation with your doctor.

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