Karyotyping for Infertility, IVF, and Recurrent Pregnancy Loss (RPL)
Karyotyping is a pivotal genetic test used to analyze an individual‘s chromosomes to identify genetic abnormalities that may impact reproductive health. This analysis is essential for couples facing challenges with infertility, undergoing In Vitro Fertilization (IVF), or experiencing recurrent pregnancy loss (RPL). Understanding and addressing chromosomal issues through karyotyping can significantly enhance the chances of successful conception and a healthy pregnancy.
Karyotyping involves examining the number and structure of chromosomes in a cell. It can detect major chromosomal abnormalities such as aneuploidy (an abnormal number of chromosomes), translocations (rearrangements of chromosome segments), Robertsonian translocations (a specific type of chromosomal rearrangement), and mosaicism (the presence of two or more genetically different cell lines in one individual).
- Aneuploidy: This condition arises when there is an abnormal number of chromosomes. It can lead to various reproductive issues, including infertility and pregnancy loss.
- Translocations: These involve a rearrangement of chromosome segments and can lead to genetic disorders or affect reproductive outcomes.
- Robertsonian Translocations: A type of translocation where whole chromosomes or large chromosome arms are fused together. This can impact fertility and increase the risk of miscarriage.
- Mosaicism: The presence of different cell lines within the same individual can cause varying effects on fertility and pregnancy.
Clinical Utility
- Infertility: Karyotyping can identify chromosomal abnormalities that contribute to infertility. For couples struggling to conceive, it helps pinpoint genetic issues that might be impeding successful reproduction.
- IVF: In the context of IVF, karyotyping is crucial for assessing the chromosomal status of both partners. This information guides embryo selection, increasing the likelihood of a successful implantation and pregnancy.
- Recurrent Pregnancy Loss (RPL): RPL is defined as experiencing three or more consecutive spontaneous miscarriages before 20 weeks of gestation. Karyotyping can reveal chromosomal abnormalities linked to these losses, aiding in genetic counseling and tailored management strategies to improve future pregnancy outcomes.
When to Consider Karyotyping
- Infertility: Couples who have been unable to conceive for more than a year, or those who previously had a child but are now struggling to conceive again, should consider karyotyping. This is especially important if the female partner has been diagnosed with primary ovarian dysfunction or the male partner has a very low sperm count.
- IVF: Before starting IVF treatment, both partners should undergo karyotyping. This helps in selecting the most viable embryos and reducing the risk of treatment failure.
- Recurrent Pregnancy Loss: Couples who have experienced three or more consecutive miscarriages should undergo karyotyping. Identifying chromosomal abnormalities can provide crucial insights into the causes of these losses and guide future reproductive planning.
- Genetic Testing of Embryos: Couples seeking genetic testing of embryos should perform karyotype testing before initiating IVF to avoid beginning a treatment cycle with a high likelihood of failure.
MapmyGenome Offerings
MapmyGenome provides comprehensive karyotyping services designed to support couples navigating infertility, IVF, and RPL challenges:
- Advanced Karyotyping Analysis: We use state-of-the-art technology to provide accurate and detailed karyotyping results. This analysis includes detecting various chromosomal abnormalities that could affect fertility and pregnancy outcomes.
- Genetic Counseling: Our expert genetic counselors offer pre- and post-test consultations to help you understand the results and their implications for your reproductive health. They provide personalized guidance and support throughout the diagnostic process.
- Comprehensive Reports: Receive detailed reports outlining any chromosomal abnormalities detected, along with recommendations for managing and addressing these issues in the context of infertility or recurrent pregnancy loss.
- Pre-IVF Karyotyping: For couples preparing for IVF, we offer specialized karyotyping services to assess chromosomal health and optimize embryo selection, improving the chances of a successful pregnancy.
- Family Planning Support: We provide guidance on family planning strategies based on karyotyping results, helping you make informed decisions about your reproductive health and future pregnancies.
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 |