Matchmygenome - Couple Carrier Screening for Infertility, IVF & Recurrent Pregnancy Loss (RPL)
Matchmygenome is a comprehensive Couple Carrier Screening test designed to identify the carrier status of genetic disorders in couples. It estimates the risk of passing on genetic conditions to future offspring, making it an essential tool for those dealing with infertility, recurrent pregnancy loss (RPL), or undergoing in vitro fertilization (IVF). Carrier screening is no longer just an optional test; it has become an integral part of reproductive health and family planning, as recommended by major medical organizations such as ACOG and ACMG.
For couples facing infertility or frequent miscarriages, the knowledge of carrier status can significantly impact reproductive decisions. The early identification of potential genetic risks allows couples to make informed choices about how to proceed with family planning, fertility treatments, or other interventions to improve their chances of having a healthy child.
Carrier screening involves testing to detect gene mutations that may cause genetic disorders. Many genetic conditions are "recessive," meaning that an individual must inherit two copies of a defective gene (one from each parent) to develop the disorder. Carriers typically have one normal gene and one mutated gene, which does not affect their health. However, if both partners are carriers of the same genetic disorder, they have a 25% chance of having an affected child with each pregnancy.
Matchmygenome’s Couple Carrier Screening test uses advanced Next-Generation Sequencing (NGS) technology to screen for over 750 genetic conditions that could impact fertility, pregnancy outcomes, and overall reproductive health. This high-resolution screening is particularly valuable for couples experiencing unexplained infertility, recurrent pregnancy loss, or undergoing IVF, as it helps uncover genetic factors that may be at play.
Clinical Utility
- Identifying Carrier Status: Carrier screening identifies gene mutations linked to specific genetic conditions, helping couples understand their reproductive risks.
- Family Planning in IVF & Infertility Treatments: The screening results provide crucial information for couples undergoing infertility treatments or IVF. Knowing the carrier status aids in embryo selection and fertility management.
- Personalized Reproductive Management: The results guide personalized reproductive strategies, including options like PGT and prenatal diagnosis, reducing the risk of passing on genetic disorders.
When to Consider Carrier Screening
Carrier screening is recommended for a wide range of individuals and couples, particularly those facing reproductive challenges:
- Consanguineous Couples: Couples who are related by blood, such as first cousins, have a higher risk of being carriers of the same genetic disorders.
- Couples with a History of Genetic Disorders: Those with a child already affected by a genetic or Mendelian disorder who are planning to have another child should consider carrier screening to assess their risk.
- Couples with Infertility or Recurrent Pregnancy Loss: Carrier screening helps uncover the genetic causes behind unexplained infertility or recurrent pregnancy loss.
- Couples Belonging to the Same Ethnic Group: Some genetic conditions are more prevalent in specific ethnic groups, making carrier screening crucial for these couples.
- Couples with a Family History of Genetic Disorders: If either partner has a family history of genetic diseases, carrier screening helps assess their risk of passing it on to their children.
- Couples Undergoing IVF: Carrier screening is recommended before IVF to ensure embryos are free from serious genetic disorders, increasing the likelihood of a healthy pregnancy.
MapmyGenome Offerings
MapmyGenome offers a state-of-the-art Couple Carrier Screening service that is ideal for couples planning a family or currently undergoing fertility treatments. Here’s what you can expect:
- Advanced NGS Technology: Our carrier screening uses the globally recognized Illumina platform for high-density screening of over 750 genetic conditions. This includes screening for autosomal recessive and X-linked disorders, which are common causes of genetic infertility.
- Comprehensive Analysis: Our test analyzes genes linked to conditions like beta-thalassemia, cystic fibrosis, Duchenne muscular dystrophy, spinal muscular atrophy, and more. It also detects copy-neutral loss of heterozygosity (Cn-LOH) regions, essential for screening for Uniparental Disomy (UPD) and other autosomal recessive disorders.
- Genetic Counseling: We provide personalized pre- and post-test genetic counseling for couples. This includes pedigree analysis and expert recommendations based on the screening results.
- International Standards: Our analysis follows international guidelines and recommendations from organizations like ACOG (American College of Obstetricians and Gynecologists) and ACMG (American College of Medical Genetics and Genomics), ensuring the highest level of clinical accuracy.
Test specifications
|
Technique |
Platform |
Coverage |
Variant types |
TAT |
Sample requirements |
|
NGS |
Illumina iScan |
100-120X |
SNV, CNV |
3-4 weeks |
2-4 mL EDTA blood from each partner 1-2 µg purified DNA from each partner |