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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.

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Where do you find us?

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

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News

Interview with Mirna Turcinovic, team manager of the coordinators

09.04.2021

Four questions to our IVF team at the ProCrea Swiss IVF Center Prague This time with customer care manager Mirna Turcinovic "ProCrea Swiss IVF Center is a perfect mixture of a private, family clinic and advanced technologies avilable to couples who need medical support to pregnancy planning." 1) What does your working day mean to you? Adventure, tension, joy or mission? The role of our team (treatment coordinators) is to povide support to our patients in all phases of the treatment. It starts with first contact via e-mail or lasts until viable pregnancy is achieved. In our team we have only women who can relate to all female issues around infertility and provide help with not only treatment information but also empathy and understanding of what our patients are going through.  When we use the statement "I had a successful day", "I did well today", what can we imagine in that in your profession? A good day for us means a day when we received many positive pregnancy tests. For us it is biggest reward knowing we were able to help our couples on their journey to desired baby. It gives us huge energy wave and confirmation that what we do is important becasue we are able to make a difference in this world and bring joy to someone´s life. 2) How would you characterize the field of reproductive medicine. Importance, benefits for society today and in the near future? I believe that everyone, especially young women should be educated about their fertility. It is not a taboo topic, biology has its principles and many young women would benefit from understaning them. There is no reason to fear biologic clock or pressure to find a right partner at a certian time in life, there is vriety of options availble from diagnostics, fertility preservation, pregnancy planning etc. Medicine and technology have made huge progress and today we are able to help almost everyone who wishes to have a child. There are different sets of methods avilable and by creating individual treatment plans, everyone can learn about their options. As time when women become mothers has shifted from 20ies to 30ies and 40ies, many women and men will need help of reproductive medicine to achieve pregnancy. We should accept it as normal situation in 21st century and take the best from it. Everyone can manage their own fertility. 3) As an expert, what would you say to women who do not yet have a family and children? There is never a perfect timing. Many couples postpone parenthood until all conditions are met. Today in time of COVID, we face how unpredictable life is. And more then ever we understand how important family is as a basic unit of our society. Young women should learn about their fertility and their options from young age and not to wait for last minute to contact reporoductive medicine specialists. The earlier we start evaluating fertility, more options we will have to preserve it and make plan for future pregnancy. We would advise all women to contact our Info Center and learn about their options.  4) Simply and concisely: what makes ProCrea different and unique? ProCrea Swiss IVF Center is a perfect mixture of a private, family clinic and advanced technologies avilable to couples who need medical support to pregnancy planning. Many couples who come to us, complain that at the big centers they feel like a „number“ and that treatment is not indiviual enough. Our approach is opposite, we provide Individual plan for each patient and in a setting that is comfortable and does not scare the patient with its size. We support of Next Clinics (20 IVF clinics in our group) we are able to combine top knowledge and best practices from many European centers and deliver it locally in a private atmosphere.   Mirna Turcinovic, MSc Customer Care Manager v ProCrea Swiss IVF Center Prague  

WHOLE ARTICLE

COVID-19 operating information, 1.3. 2021

01.03.2021

Dear clients, we would like to inform you and assure you that the current government measures of the Czech Republic do not have an impact on the treatment of our patients and do not limit the operation of the clinic. Please only cooperate by following the procedures below: •    Fill out a COVID-19 consent form at the clinic reception.  •    Please wear a mask when entering the clinic. •    Your temperature will be checked upon entry.  •    If you are feeling unwell please call the clinic first, do not come to the clinic. •    If consultations are not possible in person, we can reschedule it or arrange it via Skype-Zoom to make sure we give  attention on time to your case. •    If you have been in close contact to a COVID positive person, please inform us and we will postpone your treatment    for two weeks.  •    Please attend your appointments alone or with your partner, with no extra company. •    We will continue to monitor new government regulations to provide the safest treatment environment for you and your  family. •    International patients, please contact clinic Coordinators at info@procreaivf.cz to receive latest travel updates and receive necessary travel documentation.  Stay healthy and safe and we look forward to planning your pregnancy at ProCrea.    

WHOLE ARTICLE

We help to bloossom new lives. We are an IVF clinic with an individual and sensitive approach.

13.01.2021

We help to bloossom new lives. We are an IVF clinic with an individual and sensitive approach. Reproductive medicine has made greate progress in recent years and can help with most reproductive problems. Even in the Czech Republic, the treatments have already helped thousands of couples with their families. The peak of a woman’s fertility is reached at around age 20 and after age 25 fertility slowly starts to decrease.  More rapid decrease happens normally after the age 35 when embryo implantation rates decreases and women face higher chances of having a miscarriages. The reason are explained by genetic abnormalities in eggs which result in genetically abnormal embryos without potential to develop into healthy pregnancy.  Men are not facing this challenges as they produce new, young sperm every 60-70 days and are not so limited by reproductive age.  Our grandmothers and mothers were more in line with this biologic factors, but today as young women deal with education, career, financial independence and are waiting to align with right partner, motherhood is postponed to late 20-ies, to be exact: 29 years old which is Czech and European average to become mothers for the first time mothers. Getting further away from biology, many couples turn to reproductive medicine to help them plan parenthood. Our job is not just to treat, but also to educate our patients when to seek help, we recommend to contact the clinic right away if: •    You are 35 or younger and you’ve been trying to get pregnant for 1 year without success •    You are over age 35 and you’ve been trying for more than 6 months without success •    You’re over age 40 and you’d like to start a family Time factor plays important role and we encourage woman to continue trying naturally but also to learn about their fertility and make realistic plan with time frame how to plan pregnancy. Contacting a clinic is not a taboo and many couples are parents today to children born with the help of assisted preproduction. Clinic has Info Center ready to answer all your questions and organize your first visit to the clinic ProCrea Swiss IVF Center in Prague.  Contacts:  Phone: +420 257 212 516 – 518 E-mail: info@procreaivf.cz  

WHOLE ARTICLE

Happy New Year 2021

31.12.2020

WHOLE ARTICLE

Christmas holidays non-working day

07.12.2020

We would like to inform you that our clinic will be closed 24th – 27th December. In case of any questions, please contact us ahead. We wish you Happy Holidays! ProCrea Swiss IVF Center Prague

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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

Client ranking

The most beautiful Christmas

The most beautiful Christmas
05.01.2021

"We would like to thank you very much for our treasure Karolína. We are your clients and thanks to you, our little girl was born on December 20, 2020 and became our most beautiful Christmas gift. The little one was 48cm and 3210g and we are very grateful to you.” Family Ženatík

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  

 

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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