NGS

NGS IVF Treatment—NGS stands for Next Generation Sequencing, a cutting-edge technology used to enhance IVF treatment by offering highly advanced genetic screening of embryos. It is often used for genetic testing (PGT, Preimplantation Genetic Testing) in IVF cycles to ensure the embryos are free of genetic abnormalities before implantation. Below is a detailed, clear explanation of how NGS IVF Treatment works, its benefits, and why it might be chosen.

What is NGS IVF Treatment?

NGS (Next Generation Sequencing) is a genetic testing technique used in the context of IVF (In Vitro Fertilization) to analyze the genetic makeup of embryos. NGS offers a high-resolution, comprehensive genetic screening of embryos to detect chromosomal abnormalities, genetic disorders, and other potential issues before an embryo is implanted in the uterus.

NGS in IVF is typically part of Preimplantation Genetic Testing (PGT), which is performed to identify embryos that have a normal number of chromosomes (euploid embryos) and are free of genetic conditions. The main types of PGT used with IVF are:

• PGT-A (Preimplantation Genetic Testing for Aneuploidy): Identifying embryos with the correct number of chromosomes, which helps detect chromosomal abnormalities like Down syndrome, Turner syndrome, and other aneuploid conditions.
• PGT-M (Preimplantation Genetic Testing for Monogenic Disorders): Screening for single-gene mutations, such as cystic fibrosis, sickle cell anemia, or Huntington’s disease.
• PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements): Detecting chromosomal rearrangements, such as translocations or inversions, which can cause infertility or miscarriage.

How NGS IVF Treatment Works – Step-by-Step Process

1. Initial Consultation and Genetic Counseling

• The process begins with a consultation at a fertility clinic that offers NGS IVF. The doctor and genetic counselor will discuss your medical and family history, any genetic conditions you may be concerned about, and your reasons for choosing NGS in IVF.
• Blood tests or genetic screenings may be performed on the couple to identify carrier status for certain genetic disorders or to determine if you are at risk for any inherited conditions. This helps inform the NGS process and which type of genetic testing is needed.

2. Ovarian Stimulation (for the Female Partner)

• As with traditional IVF, the woman will undergo ovarian stimulation using hormone injections. This step aims to stimulate the ovaries to produce multiple eggs in one cycle, as typically only one egg is produced per cycle in natural conception.
• The woman’s response to stimulation is monitored with regular ultrasound scans and blood tests to track the development of the eggs.

3. Egg Retrieval

• Once the eggs are ready, a minor surgical procedure is performed to retrieve the eggs from the ovaries. This is done under light sedation or anesthesia, and a needle is used to collect the eggs.
• The procedure typically takes about 15-20 minutes, and patients can usually go home the same day after a short period of rest.

4. Sperm Collection

• On the same day as the egg retrieval, the male partner (or sperm donor) provides a sperm sample. If there are concerns about sperm quality, ICSI (Intracytoplasmic Sperm Injection) may be used to inject a single sperm directly into the egg for fertilization.

5. Fertilization in the Lab

• The eggs are fertilized in the lab using standard IVF (mixing sperm and eggs) or ICSI (injecting a sperm into the egg). Once fertilization occurs, the embryos begin to divide and grow.
• The embryos are carefully monitored over the next few days as they develop.

6. Embryo Biopsy for NGS (PGT-A, PGT-M, or PGT-SR)

• When the embryos reach the blastocyst stage (typically on day 5 or 6), the next step is embryo biopsy. This is a delicate procedure where a few cells are taken from the trophectoderm (outer layer of the embryo, which will eventually form the placenta).
• The biopsy does not harm the embryo, as the remaining cells continue to develop normally.
• The biopsied cells are then sent to a genetic laboratory for Next Generation Sequencing (NGS) testing.

7. Next Generation Sequencing (NGS) Genetic Testing

• NGS is a powerful and advanced technique that allows for comprehensive genetic analysis of the biopsied cells. Unlike older methods of genetic testing, NGS can provide highly accurate and detailed results, including:
• Chromosomal screening (PGT-A): To check for aneuploidy (wrong number of chromosomes), which can lead to conditions like Down syndrome, Edward’s syndrome, or miscarriage.
• Single-gene disorders (PGT-M): For conditions like cystic fibrosis, sickle cell anemia, or muscular dystrophy.
• Structural rearrangements (PGT-SR): For chromosomal translocations or inversions.
• NGS can sequence the entire genome of the embryo, making it the most accurate method for screening embryos before implantation.
• Results from NGS are usually available in 5 to 10 days, and the clinic will review the results with the couple to help decide which embryos to transfer.

8. Embryo Selection Based on NGS Results

• After the genetic testing results are available, the embryos are classified based on their genetic health:
• Euploid embryos (those with the correct number of chromosomes) are most likely to implant and lead to a healthy pregnancy.
• Anomalous embryos (those with chromosomal abnormalities or genetic disorders) are typically discarded, though this is a personal decision, and some may opt for further counseling.
• The clinic will choose the best quality embryo (or embryos) for transfer based on the NGS results. Typically, one or two embryos are transferred.

9. Embryo Transfer

• The selected embryo(s) are transferred into the woman’s uterus through a simple, non-invasive procedure using a thin catheter.
• The procedure is usually quick and painless, though some women may experience mild cramping afterward.
• The doctor will use ultrasound to guide the catheter into the uterus for optimal placement.

10. Pregnancy Test and Follow-Up

• After 10-14 days, a blood test is done to check if implantation has occurred and the woman is pregnant. If the test is positive, the clinic will monitor the pregnancy with further blood tests and ultrasound scans.
• If the test is negative, the couple may choose to use frozen embryos (if available) for another cycle or discuss the next steps with the fertility doctor.

Benefits of NGS IVF Treatment

1. Higher Success Rates:
• NGS significantly improves the chances of a successful pregnancy by ensuring that only the healthiest embryos are selected for transfer. This reduces the likelihood of miscarriage caused by chromosomal abnormalities.
2. Prevention of Genetic Diseases:
• If a couple is at risk of passing on a genetic disorder (e.g., cystic fibrosis, sickle cell anemia), NGS allows for the selection of embryos free from these conditions, increasing the chances of a healthy child.
3. Chromosomal Screening (PGT-A):
• NGS allows for highly accurate PGT-A (chromosomal screening) to detect conditions like Down syndrome and other aneuploidies. It helps avoid transferring embryos with chromosomal abnormalities, which are a leading cause of miscarriage and failed implantation.
4. Improved Embryo Selection:
• NGS offers a more accurate and detailed analysis than older methods of genetic screening, allowing for better selection of embryos with the highest potential for a healthy pregnancy.
5. Embryo Freezing:
• Embryos that are not selected for transfer can be frozen for future use, allowing for multiple attempts in one IVF cycle and eliminating the need for ovarian stimulation and egg retrieval again.
6. Less Risk of Miscarriage:

• By screening embryos for genetic issues, NGS reduces the risk of miscarriage by selecting embryos that are genetically normal and have the correct number of chromosomes.

Cost of NGS IVF Treatment

The cost of NGS IVF varies depending on the clinic, the country, and the specific services included in the treatment plan. On average, the cost of IVF with NGS in countries like Cyprus can range from €6,000 to €10,000 or more per cycle. This typically includes:

• Ovarian stimulation and monitoring
• Egg retrieval and sperm collection
• Embryo biopsy and genetic testing (NGS)
• Embryo transfer and follow-up care

Additional costs may apply for embryo freezing, ICSI, or medications.

Why Choose IVF with NGS?

1. Advanced Technology: NGS is a state-of-the-art genetic screening technique that offers highly detailed, accurate, and reliable results compared to older methods.
2. Increased Success Rates: NGS helps improve the chances of a successful pregnancy by selecting the best embryos based on genetic health.
3. Genetic Disease Prevention: It helps prevent the transmission of genetic disorders to the child, offering peace of mind for couples at risk.
4. Personalized Treatment: IVF with NGS is tailored to the couple’s specific needs, whether that’s genetic screening for inherited diseases or chromosomal abnormalities.
5. Affordable Option: IVF with NGS is generally more affordable in countries like Cyprus compared to Western Europe and the U.S., making it an attractive option for international patients.