Genetic Testing Services
Genetic testing in fertility care allows couples to screen embryos for chromosomal abnormalities and hereditary conditions before pregnancy. By analyzing a few cells from the embryo, specialists can identify genetic disorders, reduce the risk of miscarriage, and select healthy embryos for transfer. This advanced testing, often performed alongside IVF, provides valuable insights that help increase the chances of a successful pregnancy and support informed family planning decisions.
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Our genetic testing services include embryo testing during IVF, carrier screening for hereditary diseases, prenatal genetic testing, and genetic risk assessment through Geneus®, ensuring a full spectrum of fertility and genetic care.
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Genetic Testing and IVF
Performing genetic testing during an IVF–ICSI cycle provides critical information about each embryo before transfer. After egg retrieval (OPU) and ICSI fertilization, a few cells are taken from the embryos for analysis in the Genetics Laboratory. Embryo transfer occurs after receiving the genetic test results, and the inclusion of genetic testing does not extend the overall treatment duration.
Comprehensive Chromosomal Screening (CCS):
CCS screens all 24 chromosomes to detect gender and chromosomal abnormalities such as Trisomy 13 (Patau syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 21 (Down syndrome), which are leading causes of miscarriage.
Testing for single gene disorder (PGT-M):
PGD evaluates embryos for hereditary or single-gene disorders, helping parents with known genetic conditions prevent transmission to their children.
HLA Matching:
HLA matching during IVF can help identify embryos suitable for curing a family member suffering from a hereditary disease that can be treated with bone marrow transplantation.
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Identify and Prevent Hereditary Disease
A genetic counselor will recommend one of three screening methods based on individual needs. If a mutation is detected, PGT-M is used during an IVF cycle to prevent passing on the hereditary condition.
Mutation Screening:
Performed using Sanger Sequencing, this method is ideal when a specific genetic mutation or family history is known. It detects diseases caused by a limited number of mutations or in small genes.
Exome Screening:
Next Generation Sequencing is used to screen for unknown or polygenic hereditary conditions, analyzing key regions of tens of thousands of genes simultaneously, offering faster and more comprehensive results than traditional methods.
Premarital or Preconception Screening:
This screening helps couples assess the risk of passing on genetic conditions, whether there is a known family history, an unidentified hereditary condition, or simply as an extra precaution.
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Genetic Testing During Pregnancy
Cosmomed Fertility Center offers genetic testing for pregnant women to ensure fetal health and understand causes of pregnancy loss. Testing options include Non-Invasive Prenatal Diagnosis (NIPD) and chromosomal analysis of Products of Conception (POC).
Non-Invasive Prenatal Diagnosis (NIPD):
Screen for Trisomy 13, 18, and 21, and determine fetal gender through a non-invasive blood test as early as 10 weeks of pregnancy.
Products of Conception (POC):
Fetal loss affects 25–30% of recognized pregnancies. Chromosomal analysis of POC can help determine the cause of miscarriage and guide future pregnancy management, including the use of assisted reproductive techniques and CCS to reduce recurrence risk.