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IVF with Smart PGT-M Plus
Preimplantational Genetic Testing for monogenic diseases

 

 

IVF with preimplantation genetic testing for monogenic diseases (or PGT-M) is an assisted reproductive technique that genetically tests embryos before transfer.

It helps to select healthy embryos, which prevents the birth of a baby with a genetic disease inherited from its parents.

It is indicated for women or couples carrying genetic mutations that cause an inherited disease. It has a success rate of 60-70% per transfer.

This assisted reproduction treatment begins with a review by an ethics committee and a prior informativity study to ensure that the mutations responsible for the genetic disease can be detected with current techniques.

Once the method for diagnosis has been confirmed, embryos are created and tested for the genetic mutations associated with the disease. For this, IVF treatment is performed, which includes ovarian stimulation and egg retrieval. These eggs are fertilised in the laboratory, and the resulting embryos are cultured until they reach the blastocyst stage. At this point, a biopsy is performed to study their genetic make-up. In addition to checking for the presence of the disease-causing mutation, we also analyse all the chromosomes of the embryo to ensure that there are no other abnormalities affecting its viability. To do this, we combine the PGT-M study with the Smart PGT-A Plus technology, which offers more complete information than other PGT-A tools.

When a healthy embryo is found, the uterus is prepared for transfer. In cases where the embryo does not have the disease and its chromosomes are normal, the pregnancy success rate is 60-70%. However, in situations such as advanced maternal age or a low ovarian reserve, it can be difficult to obtain a healthy embryo, so it is sometimes recommended to accumulate several embryos.

STAGES OF THE PROCEDURE
01 Previous Tests

Tests that the doctor deems appropriate must be completed before treatment can begin. These are usually analysis and seminogram (if applicable). 

02 Procedure

Evaluation by an ethics committee: Depending on the type of hereditary disease, the case must be evaluated to confirm the suitability of embryo selection (and the inherent discarding of some embryos) based on the presence or absence of mutations. In certain cases it will be necessary to request authorisation from the National Commission for Assisted Human Reproduction.

Informativity study: This is a study prior to IVF with PGT-M in which a system for the detection of the mutation(s) causing the genetic disease is verified or developed. This will require blood samples to be taken from both members of the couple and their parents, whenever possible.

Treatment preparation visit: Organisation and explanation of the cycle, resolution of doubts and medication schedule for ovarian stimulation.

Ovarian stimulation: For 10-12 days, the woman must take the prescribed medication and attend the necessary ultrasound check-ups in order to obtain the maximum number of oocytes for that cycle.

Ovarian puncture: Egg retrieval under sedation.

Generation of embryos by IVF and embryo culture up to the blastocyst stage.

Embryo biopsy: Obtaining the embryo cells necessary for the genetic study. After biopsy, the embryos are vitrified while awaiting the results of the study.

Result of the genetic study: Information is provided on the chromosomal endowment of the embryo. If an euploid (chromosomally normal or balanced) embryo is obtained, the embryo will move on to the next stage. If not, treatment must be repeated or therapeutic strategy must be changed.

Endometrial preparation: Preparation of the endometrium (inner layer of the uterus) for the transfer begins with menstruation and will again require several gynaecological ultrasound scans. Medication may be required and will be prescribed by your doctor.

Embryo transfer: When the endometrium is prepared, the embryo transfer takes place. On that day, the embryo reported as unaffected and euploid is thawed and, by means of an ultrasound-guided procedure, is positioned in the most suitable place in the uterus for implantation.

Procedure
03 Gestational Control

Pregnancy test: Approximately 11 days after the transfer, a pregnancy test is performed to show whether the patient is pregnant or not.

Confirmation ultrasound: If the pregnancy test is positive, an ultrasound scan is carried out after 2 weeks to confirm that the pregnancy is proceeding correctly.

IVF with preimplantation genetic study of monogenic diseases is an assisted reproduction technique that genetically analyzes embryos before transfer.

 

WHO IS IT FOR?

  • For those women or couples who are carriers of genetic mutations that cause a hereditary disease. This technique enables us to determine whether the embryos generated are affected by the disease and to select only the healthy ones to be transferred to the mother’s uterus.

SUCCESS RATES

In the cases in which pre-implantation genetic diagnosis of the embryos was carried out, the rate of pregnancy in the first transfer was 67.4%. This clinical pregnancy rate in the first transfer was 68.4% in women aged 35 or under, 66.7% in women aged between 36 and 39 and 67% in women aged 40 or over.

FAQs

Yes, you can lead a normal life during treatment, except for a few days before and after the puncture. You cannot have sexual relations or engage in high-intensity physical exercise. Ovarian stimulation is a treatment that is very well tolerated by patients. During this process, you may experience abdominal distension, breast turgor and/or a certain degree of tiredness. On the day of the egg retrieval (ovarian puncture) you will have to rest and will not be able to work.

Depending on your characteristics, mainly your ovarian reserve and your age, it may be necessary to obtain more eggs than your ovary produces in a single stimulation cycle in order to obtain a genetically normal embryo. Consult our doctors and biologists for your particular statistics.

Ovarian freezing techniques have improved a lot in recent times. Currently, ultra-rapid freezing techniques are used which allow us to have a 98% survival rate on thawing.

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