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PGS/PGD - Preimplementation genetic screening/diagnosis

Theory

The complete "human genetic code", i.e. information about all of his characteristics and signs, is stored in deoxyribonucleic acid (DNA). It is an enormous molecule, macromolecule, twisted into the shape of a double spiral, which together with proteins and other substances forms chromosomes. Individual segments of DNA represent specific genes; a set of genes is called the genome. In humans, the vast majority of genetic material determining inheritance is stored in the nuclei of cells. All cells in the body that have the nucleus contain identical nuclear DNA, i.e. identical genetic information.

A normal healthy individual has 46 chromosomes in the nuclei of all cells, except for reproductive cells. Of these 22 pairs, i.e. 44 chromosomes are called autosomes and 2 chromosomes represent sex chromosomes - gonosomes. While women have two XX sex chromosomes, men have X and Y sex chromosomes. This means that the physiological female karyotype is 46, XX and the physiological male karyotype is 46, XY.

Chromozomy ženy po analýze v genetické laboratoři.

Female chromosomes after analysis in the genetic laboratory: (46, XX).

Chromozomy muže po analýze v genetické laboratoři.

Male chromosomes after analysis in the genetic laboratory: (46, XY).

Unlike somatic cells, sex cells only contain half the number of chromosomes. It means that there is only a half set, i.e. 23 chromosomes in mature sex cells. All normal mature female eggs carry 22 autosomes and one sex chromosome X, while mature male sperms, in addition to 22 autosomes, contain either an X chromosome or a Y chromosome. The sex of future child is therefore determined by genetic makeup of a sperm fertilizing an egg.

If an error occurs in the number or arrangement of chromosomes during the formation of sex cells or during their merging, the born individual may be is seriously disabled or may have a problem with subsequent reproduction.

Medical science offers many methods that are being constantly improved, minimizing the risk of birth of a disabled child (ultrasound diagnostics, biochemical and genetic analysis).

Benefits and procedure of preimplantation genetic screening

Preimplantation genetic screening and genetic diagnosis allow a shift in diagnosis to the earliest stage of embryo development (3-5 day old embryo). Although there are certain correlations between the dynamics of development, the morphology of embryos and the prognosis in terms of pregnancy, this type of assessment is not fully sufficient for some couples with increased genetic risk. Provided that more than one embryo is produced after the fertilization of oocytes by in vitro fertilisation method, then the embryos not carrying a particular genetic disorder can be selected by using this method. This increases a probability of pregnancy and birth of a healthy child. It simultaneously reduces the risk of miscarriage or the need to terminate the pregnancy for genetic reasons.

Part of examination is a biopsy of the embryo cells where some cells (blastomeres) are removed from the best developing embryo by using the micromanipulation technique. The number and place of their removal depends on the stage of development and required examination. In view of the fact that the cells of the embryo in its early stage of development are not yet specialised, this intervention does not pose a burden to the vital embryo and the embryo continues to develop normally.

After genetic analysis, only the embryos with a normal genetic test result (i.e. without a genetic disorder) are selected for transfer to the uterus. Thanks to this, the probability of pregnancy and subsequent safe delivery increases.

PGS method – for whom it is intended

This method is not specifically focused on a particular genetic disorder, but on pathological changes in chromosomal makeup during the fusion of egg and sperm and subsequent early embryo development. These errors are primarily accompanied by an abnormal number of chromosomes (e.g. the Down's syndrome). Using the PGS method either only particular, the most affected chromosomes, or all embryo chromosomes can be screened.

Upon consultation with a clinical geneticist, this method is particularly recommended for the following couples:

  • the age of the female partner is over 35 years, and thus there is an increased probability that a child will be born with an abnormal number of chromosomes;
  • there has been repeated failure of IVF treatment or recurrent miscarriage in the early stage of gravidity;
  • 1 partner has undergone or is undergoing some form of chemo- or radiotherapy;
  • the eggs were fertilized in IVF cycle with sperm of the male partner suffering from azoospermia in its non-obstructive form and the sperm was obtained by the MESA or TESE methods;
  • the sex selection needs to be performed for medical reasons (the disease is determined by sex of the child)

PGD method – for whom it is intended

This method is focused directly on a specific diagnosis of genetic diseases that might be transmitted from parents.

Upon consultation with a clinical geneticist, this method is particularly recommended for couples where the parents were diagnosed with a genetic disorder.

Genetic testing techniques are constantly developing and getting more accurate and faster. The possibilities of testing and their accuracy may in some cases allow targeted genetic diagnosis and genetic screening within a single test.

Examples of PGD results

  • The picture shows a PGD analysis carried out on 1 cell of a three-day embryo. The presence of chromosomes 13, 18, 21, X and Y is being monitored. These chromosomes most frequently occur as numerous abnormalities in children born with birth defects.
    The X and Y sex chromosomes each occur in one copy here, while all other coloured signals indicating individual chromosomes 13, 18, and 21 are present in the cell in pairs. This is therefore a normal finding and a normal healthy boy may be born from this embryo.
  • The picture shows the result of a PGD analysis of the cell of a three-day embryo. The X and Y sex chromosomes each occur in one copy here, the chromosomes 13 and 21 are present in pairs, but chromosome 18 occurs in three copies in the cell. There is one extra copy of this chromosome. This means that the male foetus would be born with a very serious handicap (the Edward’s syndrome).

What does/does not genetic testing allow

Preimplantation genetic analysis enables us to reveal a series of abnormalities in a number of chromosomes, preventing the embryo from proper developing. In the genetic makeup of the embryo we can also reveal some specific hereditary diseases or abnormalities in the structure of the chromosomes. Despite the fact that there is a continuous progress enabling us to detect more defects, we cannot fully guarantee the selection of the embryo that has no defects at all.

We are increasing the chances for the success of IVF programme by not transferring the embryos detected as defective in the performed tests. Without PGD we would not be able to gain this information and would often transfer the embryos that cannot give rise to a normal pregnancy. However, even the transfer of healthy embryos cannot automatically guarantee the success of IVF programme, i.e. the implantation of the embryo after transfer to the uterus and occurrence of pregnancy. Likewise, we cannot guarantee the birth of a healthy child. All this is affected by a great number of other factors.

News

Your health and safety are our priorities

16.10.2020

Clinic is operating daily in accordance with epidemiology instructions in Czech Republic. Your health and safety are our priorities.   If you are travelling from abroad, we offer: - Official clinic invitation to confirm that travel is of medical purpose - FREE COVID PCR test for travel purposes for our female patients as part of their IVF treatment packages Feel free to contact us for more information.

WHOLE ARTICLE

Annonymous spermiogram analysis

19.05.2020

The same as every year, this summer in June we offer “Annonymous spermiogram analysis”. You can book your sperm analysis using specific individual code according to which we wil track your result. The cost of the analysis is 1000 Kc.  Booking is possbile at the reception, by e-mail or phone.

WHOLE ARTICLE

Easter opening hours

08.04.2020

Dear patients,  during Easter will be the clinic opened just for urgent cases on Saturday 11th and Monday 13th only in the morning. In urgency call +420 602  758 353. The clinic opens for you on Tuesday 14th April.  Thank you for understanding. We wish you happy Easter!

WHOLE ARTICLE

Notice for patients: Coronavirus (COVID-19/ SARS-CoV-2)

11.03.2020

Dear patients and citizens seeking advice and assistance! As an assisted reproduction centre, even we are striving to protect our patients against potential coronavirus infection as best possible. At present, there is a prevalence of uncertainty, because a vast quantity of contradictory information is available in the media and on social networks. The “infodemic” - meaning the surplus of rumors, false reports and fake news - is minimally as problematic as the epidemic itself! For this reason, we strive to provide you with objective and up-to-date information on the topic of assisted reproduction, pregnancy and coronavirus disease, and to observe the recommendations of authorities and healthcare facilities. We ask you not to visit our assisted reproduction centre if you are suffering from symptoms suggesting coronavirus infection, or if you have spent time in any of the current high-risk areas in recent weeks, or have come into contact with potentially infected individuals. Currently, the high-risk areas are: Italy Iran In China: Province Hubei (inkl. City Wuhan) In South Korea: Province Gyeongsangbuk-do (Nord-Gyeongsang) Source: Robert-Koch-Institut (RKI): Status: 10th March 2020 At present, the health risk for citizens e.g .in Germany is classified as moderate. (Source: RKI: Status: 2 March 2020, 12:30 p.m.). Contagion from person to person is the gravest means of infection. In general, the same preventive, protective and hygienic measures as those applicable during ordinary flu season should be observed. This includes proper hand hygiene, not shaking hands when greeting and keeping a distance from individuals who are ill - including people with cold or flu symptoms.(https://www.infektionsschutz.de/coronavirus-sars-cov-2.html). COVID-19 infection is generally mild, sometimes entirely asymptomatic. The level of danger of the pathogen cannot yet be reliably assessed - but it seems to be substantially lower than in the case of MERS or SARS, and is likely to be comparable to the seasonal flu (source: AGES, status: 3 March 2020, https://www.ages.at/themen/krankheitserreger/coronavirus/). In some cases, the course of the illness can be severe. The illness tends to be fatal primarily among the elderly and/or individuals with a severe chronic health anamnesis. At present, there is no reason to believe that COVID-19/ SARS-CoV-2 infection would have a more severe progression among pregnant women than women who are not pregnant. Likewise, no cases of transmission of the virus to an unborn child have been described or confirmed yet (status: 2 March 2020). In addition to the usual preventive measures, we recommend that patients who wish to get pregnant be vaccinated against the flu, not least to avoid concurrent infection with COVID-19/ SARS-CoV-2 and the flu. This applies both to unvaccinated pregnant women and unvaccinated women who wish to get pregnant. Vaccination against the flu virus poses no threat to pregnant women, and does not require the postponement of pregnancy therapy, because it is a “dead vaccine”. Therefore, pregnancy is not a contraindication to flu vaccination. Although the 2019/2020 flu season has most likely already peaked, you should get a flu vaccination even now. In fact, vaccination against the flu is explicitly recommended for pregnant women. The Standing Committee on Vaccination in Germany (STIKO) recommends flu vaccination for all pregnant women from the 2nd trimester; if there is a higher health risk due to other medical problems (e.g. asthma or diabetes), from the 1st trimester of pregnancy.

WHOLE ARTICLE

Client ranking

Beautiful

Beautiful "Thank you" from a happy, new mother
15.04.2020

Even during COVID pandemic time babies are born, including via IVF treatments. We received this beautiful thank you message from a happy new mother.

"I wish you primarily good health, so you could handle this challenging times and continue with your work. You have helped us greatly and we will be forever grateful."

Thank you

Thank you
04.03.2020

Dr. Šulc,

we would like to use this opportunity to thank you and your colleagues for the  care we received during our IVF treatment and following pregnancy from May 2019 until now.

We are especially grateful for your personal approach to our case, we felt cared after even when situation was not easy, we always knew we can turn to you for advice. We are aware that today it is unfortunatelly not a standard everywhere, so we value not only your medical help but also kind approach.

Michalka

Michalka
26.02.2020

Finaly even me can boast with joyfull news. On 10th February 2020 was born gorgeous girl Michalka (3650 g, 51 cm). She arrived 10 days after predicted date of birth. We, happy parents, want to thank to the whole Gest team for the longwished happiness. Markéta and Lukáš

Michal

Michal
07.01.2020

Finally can we show off our babyboy Michal. He was born on 24.12.2019, his weight was 2720g and was 48 cm long. Michal came into this world little bit earlier - at 37th week. 
Thanks a lot to the whole team - finally we have our little treasure. 
Happy parents Jaroslava and Luboš 

Zuzanka

Zuzanka
11.12.2019

We would like to thank the whole GEST team for the birth of our babygirl Zuzanka. She was born on 13. 7. 2018. Her weight was just 1120g - she was early born (28+6 week). She became a healthy, beautifull girl.
Grretings and thanks a lot again. 
Milena Wágnerová  

 

Jakoubek

Jakoubek
25.11.2019

We would like to thank to the whole GEST team for their care, namely Dr. Šulc, his colleagues, which we also met - Dr. Poláková, Dr. Černý and Dr. Alexandr. 
On 28th October was born our healthy babyboy Jakoubek. 
Thank you very much!
Jana and Martin 

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Address

ProCrea Swiss IVF Center s.r.o.
Nádražní Str. 762/32
(entrance from Rozkošného Str. 1058/3)
150 00 Praha 5 - Smíchov

Surgery hours:

Monday 8:00 - 16:30
Tuesday 8:00 - 19:00
Wednesday 8:00 - 19:00
Thursday 8:00 - 16:30
Friday 8:00 - 16:30
Saturday Emergency only

Contact

Phone.: +420 257 212 516 - 518
Mobile: +420 602 328 346
E-mail: info@procreaivf.cz  
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