Genetic screening has become an essential part of modern in vitro fertilization (IVF) procedures. Fertility clinic use advanced testing methods to identify potential genetic disorders in embryos before implantation, ensuring a higher chance of a healthy pregnancy. These screenings help detect chromosomal abnormalities, inherited conditions, and other genetic risks that may impact the success of IVF.

Types of Genetic Screening in IVF

Fertility clinics perform genetic screening through different methods to ensure only the healthiest embryos are selected for transfer.

1. Preimplantation Genetic Testing for Aneuploidy (PGT-A)

• PGT-A screens embryos for chromosomal abnormalities such as Down syndrome (trisomy 21), Turner syndrome, and Edwards syndrome.

• It helps identify embryos with the correct number of chromosomes, reducing the risk of miscarriage and implantation failure.

2. Preimplantation Genetic Testing for Monogenic Disorders (PGT-M)

• PGT-M is used when one or both parents are carriers of inherited genetic diseases such as cystic fibrosis, sickle cell anemia, or Tay-Sachs disease.

• This test ensures that only embryos free from the specific disorder are selected for implantation.

3. Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR)

• This test is used to detect chromosomal translocations and structural rearrangements, which can lead to repeated pregnancy loss or birth defects.

• It helps improve the chances of a successful pregnancy by selecting embryos with a balanced chromosome structure.

How Is Genetic Screening Performed?

1. Ovarian Stimulation & Egg Retrieval – The woman undergoes ovarian stimulation, and mature eggs are retrieved.

2. Fertilization & Embryo Culture – The eggs are fertilized using ICSI (Intracytoplasmic Sperm Injection), and embryos are cultured for several days.

3. Embryo Biopsy – A few cells are extracted from the embryo on Day 5 or 6 of development.

4. Genetic Testing in the Lab – The cells are analyzed for genetic abnormalities using advanced molecular techniques such as Next-Generation Sequencing (NGS) and Polymerase Chain Reaction (PCR).

5. Embryo Selection & Transfer – Only genetically healthy embryos are selected and transferred to the uterus.

Benefits of Genetic Screening in IVF

• Increases IVF Success Rates – Reduces implantation failure and miscarriage risk.

• Prevents Genetic Diseases – Ensures that the child does not inherit serious genetic disorders.

• Improves Pregnancy Outcomes – Enhances the chances of delivering a healthy baby.

• Reduces Emotional and Financial Burden – Minimizes the need for multiple IVF cycles and potential pregnancy complications.

Who Should Consider Genetic Screening?

• Couples with a family history of genetic disorders.

• Women over 35, as they have a higher risk of chromosomal abnormalities.

• Couples who have experienced multiple miscarriages.

• Individuals with known genetic mutations or chromosomal rearrangements.

Conclusion:

Genetic screening during IVF plays a crucial role in selecting healthy embryos, preventing inherited disorders, and increasing the chances of a successful pregnancy. Fertility clinics use advanced testing techniques like PGT-A, PGT-M, and PGT-SR to ensure the best possible outcome for couples undergoing IVF. By identifying genetic risks early, these screenings provide a safer and more effective path to parenthood.

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