Preimplantation diagnosis of the embryo by NGS

Preimplantation genetic diagnostics at theIVMEDclinic is performed using the Next generation sequencing (NGS) method.

Genetic diagnostics of embryos before transfer to the uterus increases:

• the chances of a successful pregnancy;
• the likelihood of having a healthy baby.

Reduces:

• the number of unsuccessful IVF attempts due to termination of pregnancy due to fetal pathology;
• the risks of having a child with a chromosomal abnormality.

Saves:

• women’s health (since successful IVF eliminates the need for repeated hormone administration to stimulate ovulation).

When is it necessary to conduct genetic diagnostics?

Genetic diagnosis of the embryo is performed if:

• the expectant mother’s age is 35 years and older;
• the woman has a history of habitual miscarriage;
• the couple was diagnosed with a male factor of infertility caused by impaired spermatogenesis;
• no positive IVF result with good quality embryo transfer.

And also, if:

• one or both spouses are carriers of a chromosomal abnormality, and the spouse’s family has relatives with chromosomal diseases;
• there are sex-linked genetic diseases in the spouse’s family that are inherited.

Advantages of the NGS method

• 70% – the probability of IVF success with preimplantation diagnostics by NGS;
• 1 analysis – 2 studies: by structure and by chromosome number;
• 99.99% accuracy of the method for detecting chromosomal abnormalities;
• 24: studying all 24 chromosomes simultaneously with unprecedented accuracy of 99.999% (at the Q50 Phred Quality Score level);
• embryo safety: up to 0.07% – this is the number of embryo cells used for analysis (the biopsy does not touch the cell mass, which subsequently forms the fetal tissue);
• 0%: less than 0.001% – the probability of error or missing a mutation in the study of chromosomes.

The test provides information about the chromosomal set of embryos and, based on this data, selects a genetically complete embryo for transfer to the uterus of the future mother.

Preimplantation genetic diagnostics at theIVMEDclinic will help increase your chances of a successful pregnancy and the birth of a healthy child.

The procedure for performing genetic testing of the embryo by NGS

1. Preimplantation embryo diagnostics is one of the stages of the IVF program. It allows you to choose an embryo with a normal chromosome set (euploid embryo) suitable for transfer to the uterus.
2. A biopsy is performed on the 5th-6th day of embryo development, when it reaches the blastocyst stage. The embryologist performs a biopsy using micro-instruments, carefully removing several cells of the outer layer of the embryo for examination. At the same time, it does not affect the internal cell mass, which is the basis for the laying of fetal organs and tissues.
3. After the biopsy, the embryos are vitrified (frozen) for the period required for the analysis. TheIVMED clinic cooperates with the Turkish medical laboratory Mikrogen Genetik.
4. As soon as the results of the study are obtained, a decision is made to defrost and transfer the most promising and viable euploid embryo into the uterine cavity. Prior to thawing and embryo transfer, a woman undergoes appropriate medical preparation to ensure conditions for successful implantation of the embryo in the uterus and pregnancy.
5. The course of pregnancy and childbirth after the transfer of an embryo selected by the NGS method is similar to natural conception.
6. The analysis allows us to exclude the possibility of such chromosomal and hereditary diseases as Down syndrome, Turner syndrome, Edwards syndrome, Klinefelter syndrome, Patau syndrome, as well as monosomy and trisomy, which can cause unsuccessful implantation of the embryo in the uterus and miscarriage.