Karyotyping - Infertility/IVF/RPL

Karyotype analysis of both partners is recommended in all couples with recurrent pregnancy loss & infertility1

RPL is defined as three or more consecutive clinically recognized spontaneous pregnancy losses before 20 week of gestation. By this definition, one in 300 women experience RPL2

Karyotyping can detect major chromosomal abnormalities, such as aneuploidy, translocations, Robertsonian translocation, mosaicism

Clinical Utility

  • Infertility: Karyotyping helps identify chromosomal abnormalities contributing to infertility.
  • IVF: Karyotyping assesses chromosomal status to guide embryo selection and maximize IVF success.
  • RPL: Karyotyping identifies chromosomal abnormalities linked to recurrent pregnancy loss, aiding in counseling and future management.

When is it recommended

  • Unable to conceive for more than a year or had a child before and are struggling to have another.
  • The male partner has an extremely low sperm count or female partner has been diagnosed with primary ovarian dysfunction
  • All couples with unexplained or partially explained primary or secondary infertility lasting more than 12 months should routinely undergo karyotype testing as part of their infertility workup.
  • Couples seeking genetic testing of embryos should also undergo karyotype testing. It is advisable to perform the karyotype test before initiating any IVF treatment to prevent starting a treatment with a high chance of failure.

Test specification

Technique Variant types TAT Sample requirements
G - Band AS + SV 10-12 days, 18 days for CVS Serum heparin 2-3 ml, CVS



  1. Kara, Elda, and Manuela Simoni. "Genetic screening for infertility: When should it be done?." Middle East Fertility Society Journal 15.3 (2010): 139-145.
  2. Hyde, Kassie J, and Danny J Schust. “Genetic considerations in recurrent pregnancy loss.” Cold Spring Harbor perspectives in medicine vol. 5,3 a023119. 6 Feb. 2015, doi:10.1101/cshperspect.a023119


Why is karyotyping recommended for couples experiencing infertility?

Karyotyping is recommended to identify chromosomal abnormalities that may contribute to infertility, helping to understand the underlying causes and guide appropriate treatment strategies.

Why is karyotyping performed before undergoing IVF?

How does karyotyping impact the IVF process?

When should karyotyping be considered in cases of recurrent pregnancy loss?