NGS (Next Generation Sequencing): What is it and How is it Applied?
NGS is a technology capable of analysing genetic information quickly and in detail. During IVF treatment, this method is used to detect possible genetic problems in embryos. This enables the selection and transfer of healthy embryos.
Application Process
Biopsy:
From the embryo that reaches the blastocyst stage on the 5th or 6th day, 7-8 cells are taken from a cell layer called the trophectoderm. This process is carefully done without harming the embryo by expert embryologists
DNA Extraction:
DNA is extracted from the collected cells.
Sequencing:
The obtained DNA samples are thoroughly analyzed using Next Generation Sequencing technology.
Analysis:
The data obtained from sequencing are evaluated with genetic analysis programs. At this stage, it is determined whether the embryo is chromosomally normal (euploid) or abnormal (aneuploid).
Advantages
The ability to analyse all chromosomes simultaneously.
High accuracy rate in detecting genetic abnormalities in embryos.
Assisting in understanding the reasons behind recurrent miscarriages or unsuccessful IVF treatments.
Increasing the chances of pregnancy by selecting and transferring healthy embryos.
Limitations
NGS method has the following limitations:
- It cannot detect single gene defects.
- It cannot detect deletions and duplications smaller than 20 Mb in size.
- It cannot detect polyploidies like triploidies (e.g., molar pregnancies).
- It cannot predict structural and developmental problems (e.g., VSD – a hole in the heart wall).
- It does not predict multifactorial conditions such as autism.
- It cannot detect balanced chromosomal changes (translocations, inversions).
- Disorders caused by balanced chromosomal changes, known as Uniparental Disomy (UPD), where both copies of a chromosome pair come from one parent, cannot be identified.
- Mosaicism below 20% cannot be detected.
Summary
NGS is an effective genetic screening method used during IVF treatment. It is particularly recommended for cases of repeated pregnancy losses, unsuccessful IVF treatments, severe male factor infertility, and older prospective mothers. This method allows for the detection of potential genetic problems in embryos, ensuring only healthy ones are transferred. This not only increases the chances of pregnancy but also helps prevent chromosomal diseases.
