MATCHMYGENOME - Couple carrier screening for infertility, IVF & RPL

Matchmygenome is a comprehensive Couple Carrier Screen to determine the carrier status of common genetic disorders in the couple to estimate the risk of passing on a genetic disorder to their future offspring. Carrier screening is recommended in cases of infertility, recurrent pregnancy loss (RPL), and in vitro fertilization (IVF) due to its significant clinical implications.

Why carrier screening?

By identifying individuals who are carriers of specific genetic conditions associated with these reproductive challenges, carrier screening allows for early detection of potential genetic risks. This knowledge enables couples to make informed decisions about family planning and reproductive options.

If both partners are carriers for the same genetic condition, the risk of passing it on to their children is increased. Carrier screening helps couples explore options such as preimplantation genetic testing (PGT) or prenatal diagnosis to reduce the risk of having an affected child. In the context of IVF, carrier screening aids in the selection of embryos that are unaffected by the specific genetic condition, increasing the chances of a successful pregnancy and the birth of a healthy child. Ultimately, carrier screening provides valuable information for personalized reproductive management, guiding fertility treatments, prenatal care, and counseling based on individual genetic risks.

Clinical utility

• Carrier screening helps identify individuals who carry gene mutations associated with specific genetic conditions.
• Carrier screening results provide valuable information for family planning in couples undergoing infertility treatments or IVF
• Carrier screening results guide personalized reproductive management by informing healthcare providers about specific genetic risks.

When is it recommended?

• A consanguineous couple or couple belonging to the same community or same ethnic group.
• Couple has a child suffering from a Mendelian disorder and who are planning to have another child.
• Couple with history of miscarriages, recurrent pregnancy loss, infertility, hereditary syndromes
• Couple with a family history of a particular recessive disease or a Mendelian disorders
• Couple and relatives of identified carriers, or to the partners of people with the disease.
• Unable to conceive for more than a year or had a child before and are struggling to have another.
• 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.

MapmyGenome - Offerings

• Powerful NGS panel on globally recognised Illumina Platform
• high-density screening of approximately 750 genetic conditions
• Copy neutral loss of heterozygosity (Cn-LOH) region detected based on intensity & SNP genotype in order to screen for UPD (Uniparental Disomy) & autosomal recessive disorders.
• Genetic counselling (pre- and post-test) with personalized recommendation for families (includes pedigree analysis)
• Detailed analysis for all known autosomal recessive conditions, including international recommendations from ACOG, ACMG

Test specification