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What is chromosomal mosaicism in IVF?

 

What is ‘chromosomal mosaicism’ and why is it important for IVF?

 

‘Chromosomal mosaicism’ refers to the presence of more than one cell line within the body.

You are a mosaic with respect to your chromosomes if you have had a karyotype in which two or more cell lines have been noted (such as mos (45, X0; 47, XYY) or mos (46, XY; 47, XY + 21).

Chromosomal mosaicism stems from the unequal separation of sister chromatids during fetal life, leading to some cells containing extra chromosomes, and others lacking the same chromosome.

What does chromosomal mosaicism mean for me?

 

If you have been diagnosed as a chromosomal mosaic, you can have a perfectly healthy life, but you may have problems when you decide to have children. In fact,the reason you had a chromosomal analysis is almost certainly because your clinical infertility specialist recommended as part of your infertility diagnosis.

The level of chromosomal mosaicism in the blood should, but does not necessarily reflect the levels of mosaicism in the reproductive organs. This means that if you have 5% mosaicism in the blood for chromosome 21, you may still have 50% mosaicism in the reproductive tissues.

Why is this important? because you may be at risk of passing on genetic disease to your offspring.

Take this example, a cell with 3 copies of chromosome 21 can become two daughter cells with one containg a single 21 and one containing two 21′s. If this cell forms a spermatozoa or egg, the embryo will have three copies of chromosome 21 (Downs syndome).

So, it is advisable always to have a karyotype performed before considering having children.

What can I do if I am diagnosed with chromosomal mosaicism?

If your chromosome analysis does reveal the presence of mosaicism, your best course of action is to seek advice from a clinical geneticist. The best course of treatment for you is probably preimplantation genetic diagnosis.
 

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New Post has been published on http://www.ivfagent.com/picsi/

Physiological ICSI and IMSI (pICSI and pIMSI)

The technique of pICSI (physiological ICSI) has been developed to try to return to nature during ICSI (as much as possible of course!). The idea of the technique is to select the best sperm for your ICSI procedure, with as little bias from the embryologist.	Image courtesy of Biocoat
The technique relies on a naturally occurring protein – hyaluronic acid, to select sperm. Yes – hyaluronic acid - the same molecule used in plastic surgery – can get you pregnant naturally!!!.
	Why hyaluronic acid? – Because it forms part of the tissue surrounding the egg. In nature, sperm bind to this molecule when they are ripe for fertilisation -get through the outer layers of the egg protective coat and reach the egg itself. In the IVF lab, we don’t use it in the same way – but the principle is the same i.e. if sperm bind to hyaluronic acid- they are the best sperm.
Unfortunately, sperm binding to hyaluronic acid does not mean the absolute best sperm (poor ones can bind but not penetrate the outer layers of the egg). To get the best sperm, you need to combine pICSI with IMSI. We call this technique pIMSI (physiological IMSI).	Image courtesy of Biocoat

Search for an IVF specialist offering pICSI in your area:

 

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New Post has been published on http://www.ivfagent.com/how-to-avoid-the-uk-egg-donation-waiting-list/

How to avoid the UK egg donation waiting list

If you need an egg donor in the UK, you most probably have joined a waiting list. These lists vary between a few months and several years before you find a suitable donor for your IVF cycle.

What most clinics don’t tell you however is that there is a way of ‘jumping the queue’, and it doesn’t involve hassling clinics or going abroad.

How? by finding your own egg donor!

 

We at IVFAgent are working hard to generate a database of potential egg donors. These are people in the UK willing to donate eggs to help you start a family.  You can search by region or by physical characteristics.

What happens when I find a suitable egg donor?

 

If you find a suitable egg donor in our list, please get in contact, giving us the donor code. Select 2-3 potential egg donors in order not to be left disappointed. Please remember that life is complex and not everybody that registers with us will be able to donate on request.

Please also indicate which IVF clinic is suitable for you to carry out your egg donation cycle. They don’t have to be on our list. We will get in touch with them, and the egg donor, and start the process off for you.

New Post has been published on http://www.ivfagent.com/pgd-for-genetic-disease/

PGD for genetic disease

 

If there is evidence of inherited disease in your family, you are well aware of the risks you take in conceiving without help. You or your partner could be carriers of a genetic trait meaning that you may pass that trait on to your offspring. Ways of avoiding the birth of offspring suffering from genetic disease include amniocentesis, but probably the best technique for disease avoidance is in the use of PGD for genetic disease.	How can PGD for genetic disease help me?   PGD is a way of diagnosing the genetics of embryos while they are still in the preimplantation stage (for example in the test-tube). How is it done?   A small portion of the developing embryo is removed through embryological biopsy techniques developed for PGD. This portion of the embryo is then tested with the PCR technique for the gene in question. The result of the analysis tells us if the embryo is affected, a carrier, or free of the disease.   Embryos free of the disease in question are then replaced in the uterus, avoiding genetic disease because affected embryos are not replaced.	Who can do PGD?   PGD is usually performed in specialised IVF centres. For genetic analysis, these labs often collaborate with geneticists and molecular biologists. In the UK, centres must have a special license to perform PGD and the UK authorities give licenses for PGD of specific diseases. This is to stop the abuse of the technique for eugenetics.
In PGD, sequences of interest include areas of single genes where specific mutations are present, overlapping sequences between deletion breakpoints and sequences between translocations. The type of analysis technique used depends on the sequence of interest. PCR analysis in PGD is currently most widely used in the diagnosis of genetic disease and immunohistocompatibility.		How do scientists analyse my embryos with PGD?   With PGD for genetic disease, scientists use the technique of Polymerase Chain Reaction to diagnose your embryos. PCR is a technique in which small sections of the genes in question are used to amplify the gene under analysis. When there is enough DNA to test, a second system is used to analyse the gene in question. This system could include gene sequencing to see if the gene has the right sequence.
Is PGD better than amniocentesis?   There is a lot of discussion about which is the better technique. PGD is better in the sense that a pregnancy does not have to go forwards before analysis can be undertaken. We think this is better for couples because the anxiety of the pregnancy is reduced.   On the other hand, with amniocentesis more cels are available for analysis, which makes the technique more reliable.	Which genetic diseases can be analysed with PGD?   Essentially, any genetic disease can be analysed with PGD. Some of the common genetic diseases analysed are shown here:   Cystic fibrosis Di George syndrome Duchenne muscular dystrophy Fragile-X Haemophilia A Retinitis pigmentosum Spinal muscular atrophy Tay-Sachs disease Thalassemia	Won’t embryo biopsy hurt or damage the embryos?   Embryo biopsy removes a small portion of the embryos’ genetic material. Studies have not shown that this damages the embryo. However, efforts are being made to improve the biopsy technique such as blastocyst biopsy.

 

What is genetic disease?

The function of the human body is maintained by the production of proteins often from a single gene. Because each gene has two copies or alleles (originating from the mother and father of the individual), a certain amount of toleration towards mutations in the genetic code of individual genes occurs within the body. This means that carriers of genetic disease are normal individuals in which one of the alleles of a gene is mutated.

Genetic disease then occurs when two carriers of a specific disease produce offspring in which both mutations are present. When two individuals are carriers, there is a 1 in 4 (25%) chance of producing affected offspring. A further 2 in 4 (50%) of offspring are themselves carriers, ad 1 in 4 (25%) are free of the disease. In these cases, even if these carriers are perfectly fertile, PGD can be recommended to enable the genetic testing of the embryos and eliminate the 1 in 4 risk of producing offspring affected by the disease.

PGD techniques of choice.
The use of FISH in preimplantation genetic diagnosis.
PGD.

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New Post has been published on http://www.ivfagent.com/pgd/

Preimplantation Genetic Diagnosis (PGD)

 

Preimplantation genetic diagnosis (PGD) is an extremely sophisticated, powerful and advanced technique that combines laboratory IVF technology with molecular diagnostics. The aim of PGD is to avoid the transmission of genetic diseases through the elimination of affected embryos. This is an alternative to prenatal diagnosis, which involves the genetic analysis of the developing foetus. Advantages and disadvantages of the PGD technique are listed below:

 

	PGD	Amniocentesis
Advantages	1) Genetic disease is diagnosed before implantation and therefore no need for pregnancy termination.2) IVF techniques simple and reliable in top centres.	1) Presence of significant amounts of foetal material and therefore reliable diagnosis.2) Techniques well established and widely available.
Disadvantages	1) Techniques not widely available i.e. require IVF centre. 2) Little material obtained from embryo (1-2 cells). Therefore theoretically not as reliable as amniocentesis. 3) Not certain that pregnancy will be obtained.	1) Maternal contamination of amniotic fluid can lead to misdiagnosis. 2) Need to terminate established pregnancy in case of positive diagnosis.

The advantage of PGD is the elimination of the need to interrupt pregnancy in people at risk of transmitting genetic abnormalities to their children. Basically, PGD works by removing a cell of the embryo developing in vitro, after which the DNA contained in the nucleus of the cell is tested for the disease of choice, and embryos affected by the disease are simply not replaced into the patients’ uterus.  Even if you are fertile, this technique can work.

Two analysis techniques are used presently. These are fluorescence in-situ hybridisation (FISH) and Polymerase chain reaction (PCR).  Basically, FISH analysis permits the analysis of copy number either of whole chromosomes, or, where probes are available, specific regions of chromosomes and even certain sequences. In contrast, PCR analysis permits the molecular detection of specific sequences and even point mutations, such as the regions of the haemoglobin gene mutated in thalassemia patients. PGD can be offered both to fertile couples at risk of passing on genetic disease such as Thalassemia or Cystic Fibrosis, or to couples already undergoing infertility treatment for a variety of causes.

PGD Technique	Infertile couples	Fertile couples
FISH/CGH	1) Sex selection (haemophilia etc). 2) Partial chromosome abnormalities (translocations, deletions, inversions etc). 3) Mosaic karyotype (i.e. partial Turner mosaic female, partial Downs syndrome). 4) Abnormal non-mosaic karyotype (i.e. XXX female, XYY male). 5) Advanced maternal age (selection against Downs syndrome etc). 6) Previous abnormal pregnancy (i.e. Trisomy 13, 18 or 21).	1) Aneuploidy analysis for poor embryo quality (selection against chaotic mosaicism). 2) Advanced maternal age (selection against Downs syndrome etc). 3) Repetitive spontaneous pregnancy loss due to foetal chromosomal abnormalities. 4) Unexplained infertility.
PCR	1) Couple both carriers of genetic defect (i.e. Cystic Fibrosis, Thalassemia). 2) Partial chromosome abnormalities (translocations, inversions, deletions etc).	1) Suspected Cystic Fibrosis in infertile male (i.e. Combined bilateral absence of Vas Deferens and Cystic Fibrosis). 2) Genetic causes of infertility (for example azoospermis due to AZF in males).

 

For more details on PGD techniques (including technical data) please follow the links below:
PGD techniques of choice.
The use of FISH in preimplantation genetic diagnosis.
The use of PCR in preimplantation genetic diagnosis.

 

What kind of couples can be helped by PGD? Basically, all couples, both suffering from infertility and normally fertile, can be treated with PGD.  PGD helps not only to avoid the transmission of genetic disease, but is also a useful tool in the selection of the best embryos for transfer.  This is because PGD can be used to look for embryos with a normal chromosome content, which are most likely to develop normally and implant.

What kind of success rates can be expected?  As for all IVF techniques, the pregnancy rate after PGD depends on maternal age.

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Primary Controlled ovarian hyperstimulation packageCycle depositCytoplasmic donationEgg cryopreservationEgg donationEmbryo donationICSIInitial consultancy onlineInitial consultation in studioSperm donation with ICSISecondary - Select -Blastocyst cultureDHEAIMSIIntralipidsOption to freeze embryosPGD preparationpICSIpIMSIPreimplantation genetic diagnosis CGHPreimplantation genetic diagnosis FISHPreimplantation genetic diagnosis PCRRepeat Pregnancy Loss

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New Post has been published on http://www.ivfagent.com/6-ways-to-ease-the-stress-of-infertility/

6 Ways to Ease the Stress of Infertility

Infertility can become a great cause of stress and anxiety especially among women. It can impact both individually and as a couple. Going through the paces can be tough and you need to have great coping skills to overcome the challenge. Infertility is a great challenge but with guidance the couple can improve their relationship further and tackle the issues and the problems of infertility together.

Bring back the fun in your life

When women are anxious about getting pregnant, sometimes they become pre-occupied with the idea. There is a tendency to enjoy the best that life could offer. Enjoy the things that you have been doing in the past. Do not let the prospects of infertility drag you down. There is more to life than just having difficulty getting pregnant. The worse thing that could happen is to feel sorry. What you can do it is to plan a weekend getaway and try to see as many places as you can. It will at least keep your mind out from the challenges of being unable to conceive as supposed to. There is more to life than just worrying about being unable to get pregnant so quickly. Therefore, get a grip and enjoy life to the fullest.

Keep a journal about your thoughts

The thought of being infertile can make anyone go haywire. But the truth is that you should not ruin your life because of this challenge. Why not write down the things that would make you happy aside from having a baby. Getting pregnant and becoming a mother is the best thing that could happen in a woman’s life. It is the single most precious thing that defines you as a woman. Sadly, there are women that are not able to bear a child easily. You can overcome this stressful thought by focusing on thoughts that would make you complete despite the troubles of infertility.

Spend more quality time

Spending more quality time with your significant other is the best way to let go of negative emotions due to prospects of infertility. Make sure that each moment with your partner is a passionate and enjoyable time. Use the time to connect and feel the care that your partner gives. Find solace that despite the things that make you less of a woman there is a man that is able to find time to make you complete and happy. You can do all sorts of things together as long as you bond well and spend quality time.

Spend time in the salon

Just because you face the specter of infertility means you are allowed to neglect self-care. No ma’am. Give yourself a treat and feel good by dropping by the local salon and have a make-over or a simple mani-pedi. Never neglect to maintain your health because of the situation. Exercise regularly and eat sensibly. Who knows? This might do the trick and you’ll be on your way to motherhood.

Accept things as they are

Pretending that infertility has no impact on you will just make things worse. Learn to acknowledge the fact that fertility is a difficult situation. Accepting things as they are will help you to become more relaxed and calmer. Choose an outlet of your emotions through art. If you are not artistic, try to write your emotions in and make a story out of it or even write a poem about your situation.

Find a support group

Couples that are facing the challenges of infertility often feel alone and desolate. However, that should not be the case. In fact there are other couples out there that are also facing similar predicaments. Why not reach out to other couples who are also battling the challenges of infertility? The support group can help you get on track towards the right frame of mind. After all, you cannot face alone all the challenges you need to cavalry so you should find someone to back you up.

Ask your doctor about your options and never give up. Try every option that is available to you. Who knows you can find the miracle that you have been waiting as long as you keep the faith that soon you will become pregnant.

About the Author:

Ryan Rivera writes about stress, anxiety and panic attacks. For more information regarding these topics, you can visit his Calm Clinic Twitter account.

New Post has been published on http://www.ivfagent.com/research-finds-no-link-between-ivf-and-breast-or-womb-cancer/

Research finds no link between IVF and breast or womb cancer

In good news for couples experiencing fertility problems, a comprehensive study has found that IVF treatment does not increase the risk of breast or womb cancer. This comes after a much smaller Dutch study suggested a link may exist.

The research, carried out by scientists at the National Cancer Institute in Maryland, USA, focussed on the medical histories of over 87,000 women who underwent an IVF procedure between the years of 1994 and 2001. The results from this study were then compared against the medical records of 20,000 women who had not received IVF treatment, with particular attention paid to occurrences of breast, cervical and endometrial cancer.

After thorough analysis, the study revealed that IVF treatment did not lead to an increased risk of the three cancers listed above. However, the scientists did detect a small and not statistically-significant rise in the number of ovarian cancer cases as the number of IVF cycles increased. Despite this very slight rise, ovarian cancer was rare in both patient groups, with only 45 cases identified across the whole sample.

These results and the suggestion of a possible link between IVF and ovarian cancer have inspired some dismissive comments from leading medical commentators, including Dr Bengt Kallen, director of the Tornblad Institute at Lund University in Sweden. He voiced his support for the argument that, despite a possible association between IVF treatment and ovarian cancer being identified, a correlation between the figures does not allude to causation.

“Infertile women experience a fundamental problem with their ovaries and IVF has no effect on this. Disentangling the facts from the figures and the impact of hormones and the IVF procedure is not easy to ascertain”.

Results from this latest study, which looked at a far larger sample of female patients than previous research, has done much to refute the findings of the Dutch analysis, in which fertility treatment was linked to increased risk.

The leader of the study, Dr Louise Brinton, concluded, “Perhaps the most surprising element of this and previous studies is the different conclusions that are drawn”. She went on to describe the findings of the study as ‘fairly reassuring’, recommending that research into IVF treatment should be ongoing.

Please see the Journal of Fertility and Sterility for the research in its entirety (published online 30th January 2013).

Author: The Bridge Centre is a leading London fertility clinic, specialising in diagnosing the causes of infertility and offering information on IVF treatment. Speak to the team at The Bridge Centre for advice on the most suitable fertility treatment for you.

New Post has been published on http://www.ivfagent.com/in-vitro-fertilisation-another-way-to-conceive-a-baby/

In Vitro Fertilisation - Another Way To Conceive A Baby

In Vitro Fertilisation is an infertility treatment for those who are finding it difficulty or could not conceive a baby for some reason. If you have already went through different fertility treatments or trying to conceive for at least two years or if you are above 40 years and everything have failed, then IVF treatment is recommended for you. It is very much safe as the whole IVF process is carried out in a laboratory or specialist clinic.

In Vitro Fertilisation

It is a three stage procedure, wherein first the ova or eggs are removed from the female partner ovaries, then they are mixed with male partner sperms in a laboratory dish (usually test tubes) to allow fertilisation to occur, and then the best embryos will be transferred back into the female uterus so that a successful pregnancy may continue. However, before beginning with the IVF treatment, a female has to undergo a series of hormone treatment to control her ovulation. An unpredictable ovulation may ruin the whole IVF procedure.

Dependencies and Success rate

The success of IVF Treatment depends on a number of factors, including the women’s age, hormone levels, associated gynecological conditions such as endometriosis, fibroids, ovarian cysts and preexisting medical conditions. However, it is essential for you to remember that In Vitro Fertilisation actually involves a series of steps that needs to be carried out over several weeks. As said, the chances for a woman to conceive a child greatly depends on her age, which means the success rate increases with the decrease in age or vice versa. It also depends on the health of the female and if you are over or under weight, then you can increase your chances by getting nearer to your ideal weight for your height before you start your treatment.

Points to remember before selecting a good IVF clinic

Make sure the clinic you have selected for your IVF treatment is caring, safer, conservative and a reputable one with positive results. Your IVF clinic must be aware about the risks involved in the treatment, like multiple pregnancies, which needs to be taken care during the procedure. Any IVF clinic must ideally explain all the aspects of the treatment to their patients. They must also be very well aware about the laws associated with it. Like in UK, only 2 embryos can be transferred in women under 40 years of age although 3 embryos can be replaced in women older than this having IVF treatment with their own eggs.

Where to go?

London is the best place to find IVF treatment. The city has some of the well known IVF clinics which takes care of you throughout your treatment. There are many reputed gynecologists who will help you, no matter what reproductive difficulties or other gynecological problems you may have. However, the prices may vary depending on the two partner, the number of days involved and the kind of treatment. But a successful pregnancy is surely priceless to the couple who are facing the difficulty or couldn’t have a child.

–
Dr Rina Agrawal is a Consultant in Reproductive Medicine, Assisted Conception and in Obstetrics / Gynaecology in the NHS and Private sector. She is also a Hon. Associate Professor in Reproductive Medicine at Warwick University and has dual accreditation in both UK and in India. She has 25 years of experience in Gynaecology and Obstetrics and over 17 years of experience in Fertility and Assisted Conception. She has individually managed over 5000 cycles of Fertility and more than 7000 insemination treatment cycles over the last 17 years.

Source: http://www.articletrader.com

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Last updated by Martin Wilding on February 2, 2013.

New Post has been published on http://www.ivfagent.com/intralipids-immunglobulin-therapy-spontaneous-pregnancy-loss/

Intralipids or Immunglobulin therapy for spontaneous pregnancy loss

	or
Which is better for pregnancy?

Spontaneous pregnancy loss (more commonly called abortion) occurs most often during the first trimester of pregnancy.  This is biologically because during this period, most developmental changes in the foetus occur, the placenta develops and the mother’s body must adapt to the physiology of pregnancy.  Many women unfortunately experience abortion, but the next pregnancy goes to term, rendering it a simple bad memory.  However, some people are affected by repetitive abortion (defined as at least three), and this can become a pathology.

There are so many ways that a pregnancy can interrupt that a cure is difficult.  However, in some cases, the cause appears to be immunological (i.e. the body recognises the foetus as ‘foreign’ and attacks it).

Where this is true, the best therapy is one designed to buffer the immunological response.

Usually, patients take a therapy of aspirin, cortisone, even Viagra has been known to be adminstered to try to help patients bypass the critical period.  These therapies usually have some immune response buffering effect, but also try to increase blood flow to the uterus, prevent blood clots forming etc.  Therapies designed specifically to try to buffer the immune response to the pregnancy are currently known as intravenous immunoglobulin therapy (IVIG) and intralipids.

IVIG therapy uses the infusion of immunoglobulins purified from human blood.  The idea is that the extra antibodies from foreign blood dampens the immune response to foreign antigens (a foetus is an example).  Yes, it’s immunosuppression.  This is easy to understand – add antibodies and hope to suppress the immune response.

Intralipids are a fat emulsion purified from Soya beans. The mixture is traditionally used with anaesthetics to prevent local anaesthetic overdose and cytotoxicity.  The mixture is also administered to patients unable to feed themselves.  So how did intralipids make the transition to immunotherapy for in vitro fertilisation? The earliest mention of intralipid therapy for recurrent abortion we found in a literature search was by Clark, D., 1994.  How the therapy made the formal transition into in vitro fertilisation is not apparrently attributed to anyone (apologies if this is not true – please enlighten us!).

What are the differences between the two therapies:

 

	Immunglobulins	Intralipids
Source	Purified from blood	Purified from Soya
Safety	Can cause drastic side effects	Safe unless patient is allergic to Soya or eggs
Action	Suppressor of NK cellsSuppresses autoantibody productionEnhances regulatory T-cell activity	Buffers IgM, IgG and IgA productionBuffers immune cell proliferation
Cost	Approx $2000/dose	Approx $100/dose
Sources	Salo, M. 1990 Roussey et al., 2007 Suite 101

 

Since the work by Roussey et al., 2007 showed very similar immune buffering effects for both IVIG and intralipids, we predict that intralipid therapy, for its safety, cost and effectiveness willl eventually become the therapy of choice.

Search for an IVF specialist offering intralipid therapy in your area:

 

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New Post has been published on http://pl.ivfagent.com/leczenie-ivf/

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