If you’ve had regular, unprotected sex for a year without falling pregnant, then you may have a fertility problem. Try not to worry though. Problems with conceiving are much more common than you may realise. Around one in six couples experience some difficulty in achieving a pregnancy, but the good news is that we can help almost 90% of them to achieve their dream of starting a family.
Around 30% of infertility is attributed to female factors, around 30% to male, 20% combined male and female and 20% is unexplained. If it turns out that you do have a fertility problem, you have every reason to feel optimistic about the outcome – Fertility science has advanced very rapidly in recent years and Lifeline has been at the forefront of these developments, helping to pioneer ever more effective treatments and widening the range of people who can be helped.
When you’re ready, we will be with you every step of the way, providing you with the information and support you need. We’ll give you clear guidance on what we need to do together to achieve the best possible chance of successful treatment for you.
Female Fertility Problems
Problems with ovulation are one of the most common causes of fertility issues for women. Poor egg quality, failure to ovulate through hormonal deficiency or imbalance, irregular ovulation and Polycystic Ovary Syndrome (PCOS) are commonly encountered problems. They are often related to age especially since egg quality is known to deteriorate quite dramatically from late thirties onward. Premature ovarian failure, when the ovaries stop working before age 40, is another reason for female infertility. After a full assessment, treatment can include IVF, ovulation induction or IVF with donor eggs.
Womb and Fallopian tubes
Your Fallopian tubes which carry eggs from your ovaries to the womb can be blocked or damaged preventing any chance of eggs meeting sperm. The reasons include:
- scar tissue
- pelvic inflammatory disease
- adhesions from an operation
- damaged tube ends
- pelvic or cervical surgery
- submucosal fibroids
If you’ve previously been sterilised and had the procedure reversed, remember that it will not necessarily mean that you will become fertile again. Treatment is usually by IVF, however sometimes if the problem is a blockage, and it is very localised, then it can be possible to clear it by keyhole surgery.
So many people go through the heartbreak of losing a baby. In the first 12 weeks the commonest cause of a miscarriage is an abnormality in the embryo. Over 12 weeks there is a higher likelihood that that loss of pregnancy
may be due to a maternal factor – it could be that the uterus isn’t working very well or the neck of the womb, the cervix, opens too early or there’s an abnormality in the pelvis. It is very unlikely that a woman will miscarry three times in a row but if she does we need to think about the possibility of there being an underlying immunological factor whereby the embryo is just not implanting properly or the body itself is rejecting a normal pregnancy or in fact is mis-reading the embryo signals and that’s when we need to undertake some sophisticated investigations which look at the possibility of there being an underlying immunological abnormality
The drugs involved with chemotherapy can sometimes cause ovarian failure which, sadly, can be permanent. Advances in egg freezing of course now mean that if you have to undertake a course of chemotherapy you can take the precaution of freezing eggs in advance of your treatment.
Being overweight, being seriously underweight, smoking, and drinking too much alcohol can all have a negative impact on your fertility.
Male Fertility Problems
- Chronic testicular pain
- Ejaculation problems
- Erectile dysfunction
The most common cause of infertility in men involves abnormal or insufficient sperm. Problems can arise when either not enough sperm is being produced, or the sperm is of poor quality. In this case we mean that the motility can be low, which affects the sperm’s ability to ‘swim’ as vigorously as it needs to, or the sperm can be abnormally shaped. A normal sample will show 20 million sperm per millilitre at least half of which will be active. Problems with sperm can be difficult to solve, however some success has been achieved with fertility drugs, particularly in increasing volume. Intra-Cytoplasmic Sperm Injection (ICSI) can also help when there is a sperm issue.
Either the tubes which store and carry your sperm from your testicles, or the vas deferens which lead from them and carry sperm immediately prior to ejaculation can be blocked. If everything else is healthy then a simple procedure to retrieve sperm may be the recommended way forward.
The testicles produce and store your sperm. Clearly, if they are damaged it will affect the quality and quantity of the sperm you produce. The damage could be caused by a wide number of events such as an infection, or testicular cancer or a testicular operation. If this is the case, it may still be possible to retrieve sperm surgically.
Sulfasalzine used to treat rheumatoid arthritis and Crohn’s disease can decrease your sperm count, however the effects are only temporary and you should return to normal after your course of treatment. Long term use and abuse of anabolic steroids will reduce the number of sperm you produce and affect their motility. The drugs involved with chemotherapy can severely reduce your production of sperm; however advances in sperm freezing now mean that if you have to undertake a course of chemotherapy you can take the precaution of freezing sperm in advance of your treatment.
Intrauterine Insemination (IUI)
IUI (Intrauterine insemination) involves placing sperm inside a woman’s uterus to facilitate fertilisation. The aim is to increase the number of sperm reaching the fallopian tubes and thus increase the chances of fertilisation. IUI is a type of fertility treatment in which high-quality sperm are separated from sperm that’s sluggish or non-moving. It’s commonly used by people who are using donated sperm in their treatment, including single women and female couples, but can also be used by some heterosexual couples.
Ovulation Induction (OI)
Ovulation induction is a fertility treatment for women who do not ovulate, usually presenting as irregular or even completely absent periods. The most common cause for this is a condition known as Polycystic Ovary Syndrome (PCOS). Treatment is usually with clomifene tablets or FSH injections. During your treatment, you will require regular scans to monitor the response of your ovaries. ‘Spontaneous’ conception through intercourse often happens, or we can offer you IUI treatment if required.
Recurrent pregnancy loss
Pregnancy loss and implantation failure are common fertility issues, but they can be particularly distressing for patients, when early hopes of a successful pregnancy are dashed. At Lifeline, we adopt a personalised approach for women and couples experiencing recurrent pregnancy loss; understanding and compassion, coupled with leading edge investigations and support.
What is Recurrent Pregnancy Loss?
- Genetic factors
- Abnormalities in the embryo
- Autoimmune factors
- Womb structure
- Weak cervix
- Blood conditions
- Immune system
- Polycystic ovaries.
- Diabetes and thyroid problems
Vitro Fertilisation (IVF)
IVF, or in vitro fertilisation, is a procedure in which eggs are fertilised with sperm in a laboratory. It was developed 40 years ago for the treatment of women with damaged fallopian tubes, and this remains an important reason for treatment today. However, it is also used in cases where a woman has endometriosis; the male partner has poor quality sperm, or when the cause of infertility is unknown. Embryos that are created following IVF are then transferred, normally one at a time, into the female partner’s womb to implant and develop or frozen for transfer in a later non-stimulated cycle. Embryos are stored by removing the fluid from inside the cells before freezing them in liquid nitrogen, known as vitrification. Thanks to this technique success rates from a frozen embryo transfer are now as good, or better, than treatment in a fresh IVF cycle.
VF treatment can take place using the patients own eggs and sperm or with the use of donor eggs or donor sperm. The Lifeline Hospital provides IVF treatment for women and couples struggling to conceive and for same sex couples and single women using donor sperm.
How does IVF work?
The IVF treatment process begins with a course of hormone therapy to stimulate the development of follicles in the ovary. These eggs are then collected, are then fertilised to create several embryos. After between two to five days in an incubator, one or sometimes two of these embryos are transferred through the vagina to the uterus, where implantation occurs, and pregnancy begins.
The IVF Process
To explain what happens in an IVF procedure we have divided the IVF process into six stages:
The ovaries are stimulated with a course of medication to produce eggs. During this period you will attend the clinic for a number of monitoring scans to check the development of your follicles that produce eggs. Once the follicles have reached the correct size, you will be given an injection to mature your eggs ready for collection.
On the day of egg collection, you will be given a small amount of sedation in preparation for the procedure. A fine needle attached to a scanning probe will be passed through your vagina into each ovary to collect the eggs. On the same day, your male partner will need to produce a semen sample, or if you’re using donor sperm, this will be thawed ready to be used.
Once the eggs have been collected, they will be placed in a dish with the sperm for fertilisation to occur. If there is a male factor issue or if the sperm is of poor quality on the day, the embryologist may suggest you use ICSI in which the sperm is injected directly into the egg to aid fertilisation.
The day after egg collection, an embryologist will call you to discuss the fertilisation of your eggs and how many embryos have developed. In most circumstances, embryos are cultured in the lab for five to six days after egg collection until they reach the blastocyst stage. Depending on your treatment plan, the embryologist will either freeze all your embryos for a Frozen Embryo Transfer in a later cycle or advise you when your fresh embryo transfer will take place. Embryos are stored by removing the fluid from inside the cells before freezing them in liquid nitrogen. Thanks to improvements in the freezing of embryos through a technique called vitrification, success rates using frozen embryos are now as successful as a treatment in a fresh IVF cycle.
Using frozen embryos
Thawed embryos may be replaced during a natural cycle (without drugs) or in a cycle primed with hormone supplements. Depending on your medical history and age, your fertility specialist will be able to discuss with you which treatment will be most appropriate.
Using fresh embryos
A fresh embryo transfer normally takes place five to six days following egg collection once the embryo has reached blastocyst stage. Today, most women will only have one embryo transferred to avoid the risk of multiple pregnancies. The embryo transfer is a simple procedure in which a speculum is inserted into your vagina (similar to a smear test), and a catheter holding the embryo will be inserted into the uterus.
Any good quality spare embryos left over from your treatment cycle can be frozen and stored for future use either if your treatment is unsuccessful or for a sibling. When you are ready to use your frozen embryos, your fertility specialist will plan a Frozen Embryo Transfer.
ICSI (Intracytoplasmic Sperm Injection) is an IVF technique in which a single sperm is injected into the centre of an egg. For around half of couples who are having problems conceiving, the cause of infertility is sperm-related. ICSI is the most common and successful treatment for male infertility. Today, it’s also the world’s favoured fertilisation method for all types of IVF treatment.
How Does ICSI Treatment Work
The early stages of ICSI IVF treatment are the same as for conventional IVF. The female partner takes fertility drugs to stimulate her ovaries so that several eggs can be collected. Each egg is injected with a sperm cell so that several embryos will be available for transfer and freeze storage. Each individual sperm cell is picked up in a very fine suction needle (many times smaller than a human hair) before injection. The whole process is visualised through very high magnification microscopes.
Who needs ICSI
ICSI can help men with low quality or quantity of sperm by extracting just a few sperm cells from the testis for injection into the egg. The rate of fertilisation with ICSI is generally around 90%, so many clinics use ICSI to guarantee fertilisation. The merits of ICSI may be discussed with you depending on your medical history during your consultation with one of our fertility specialists. In some cases, the use of ICSI may be decided on the day of fertilisation depending on the quality of the sperm sample collected.
Surgical Sperm Retrieval
There are rare cases of male infertility in which normal sperm production or sperm ejaculation is prevented by an obstruction in the complicated tubal system of the testes. In these cases, provided that motile sperm are being produced, it is possible to retrieve sperm through surgical sperm retrieval which uses a very fine needle to extract sperm directly from the epididymis or the testes. Alternatively, if no live sperm are found, a sample of tissue (testicular biopsy) can be taken from the testes and examined under a microscope for sperm cells. Any surgically retrieved sperm cells can then be used to fertilise eggs using the microinjection technique of ICSI.
IMSI (Intracytoplasmic Morphologically Selected Sperm Injection)
IMSI treatment is a variation of ICSI that we use to aid the sperm selection for fertilisation. This technique uses an even higher power magnification to visualise inside the sperm, allowing our specialists to pick the sperm with the highest chance of achieving a successful fertilisation. This technique is particularly important in cases of repeated IVF failure where we undertake sperm DNA fragmentation analysis. DNA fragmentation occurs when there is an alteration or a break in one of the DNA strands inside the sperm itself and can affect the possibility of a successful pregnancy. We have very good results with IMSI.
How does IMSI work?
IMSI uses a high power light microscope, enhanced by digital imaging, to magnify a sperm sample more than 6,000 times its normal size. This enables the embryologist to detect problems and subtle structural alterations that a normal microscope cannot see. The embryologist then selects the sperm with the most normally-shaped nuclei and highest level of motility.
The procedure is otherwise very similar to ICSI. Fertility drugs are given to the female to stimulate egg production in the ovaries. Once the leading follicle in an ovary grows to 17-22mm, the eggs are ready to be collected. The female is given a hormone injection of human chorionic gonadotrophin (hCG) around 36 hours before the egg collection procedure takes place. The hCG injection stimulates the eggs to mature. Under light sedation, the eggs are collected using an ultrasound guided vaginal probe to locate the follicles and aspirate its contents. The eggs are then placed in culture in our state of the art laboratory. In the laboratory, the embryologists will inject the one carefully selected sperm into each egg.
How long do IMSI embryos take to develop?
The embryologist will look for signs of fertilisation the day after the sperm is injected into each egg. Embryos can be transferred at any stage from the second day to the sixth day after the initial procedure. The embryos should reach the blastocyst stage by day five or six.
Is IMSI for me?
IMSI may be recommended to those who have failed IVF cycles in the past, or for couples who have a component of male infertility. IMSI can be more
expensive than traditional IVF treatment.
Previous Failed Cycles
A history of previous repeatedly failed IVF cycles can be distressing for couples especially when the underlying causes are not clearly identified. We have an individualised approach to previous failed cycles and we discuss with you the potential benefit of different investigations and treatments. A careful and meticulous review of your previous cycles can help to select the appropriate management.
We also involve our experienced embryologists in reviewing the embryology details related to your previous treatments. Most of the time, the outcome can be improved significantly by this individualised approach and a 7 days service where we have a full team including consultant, nurses and embryologists operating 7 days a week.
However, a group of patients might need one or more of the following investigations and treatments to improve the outcome of future fertility treatment:
- Blastocyst transfer
- Reproductive Immunology
- Endometrial scratch
- Egg/Embryo batching
Embryo Freezing, Embryo Storage & Transfer
Frozen Embryo Transfer
Freezing is now an essential part of every IVF programme. In fact, studies have proven that results are better when embryos are transferred in later non-stimulated cycles rather than directly following egg collection. Thanks to improved freezing techniques and across the world – are moving towards freezing all embryos and transferring them at a later date once the female partner’s body has returned to normal following stimulation.
This approach is at Lifeline IVF programme which involves freezing all embryos in an IVF cycle and transferring after thawing one at a time in later non-stimulated cycles. This maximises cumulative live birth rates per IVF attempt while minimising multiple pregnancies, which increases the health risks for both mother and baby.
Frozen Embryo Transfer process
Thawed embryos may be replaced during a natural cycle (without drugs) or in a cycle primed with hormone supplements. Depending on your medical history and age, your fertility specialist will be able to discuss with you which treatment will be most appropriate for you. The frozen embryo transfer itself is the same procedure as an embryo transfer in a fresh cycle. Once the embryo is thawed, a catheter holding the embryo is gently inserted into the cervical channel and into the uterine cavity guided by ultrasound. The catheter is then removed and checked to make sure the embryo has been transferred. After the transfer, you can return to normal with the embryo quite safe within the uterus. Following embryo transfer, a pregnancy test is usually arranged twelve to fourteen days later. During this time, it is best to avoid strenuous activity and heavy lifting.
For most people undergoing IVF or ICSI treatment, there will also be embryos remaining for the future either if treatment is unsuccessful or for a sibling. Spare embryos from your IVF treatment can be frozen for future use, depending on their quality. This would require having a frozen embryo transfer or “FET” cycle. Embryos can be stored for up to ten years for future treatment.
Success rates when using frozen embryos
Success rates when using frozen embryos continue to improve due to advances in freezing techniques. In fact, studies have proven that results are better when embryos are transferred in later non-stimulated cycles rather than directly following egg collection.
Does the length of embryo storage matter?
No. Successful transfers are not dependent on the length of time embryos have been frozen. They are stored in temperatures close to -200 Celsius and will not deteriorate over time. Many people will store embryos for use years in the future when they are ready to start or add to their family, with no effect on their quality or viability. According to the Human Fertilisation and Embryology Authority, embryos can be stored for up to ten years.
PESA and TESE
PESA and TESE are surgical procedures which are used to extract sperm when the male partner has no sperm present in the ejaculate. They are minimally invasive techniques and sperm can be obtained from men with a variety of issues including vasectomy, failed vasectomy reversal, an absence of the vas deferens, blockages anywhere along the seminal tract (obstructive azoospermia) or any problem arising from injury or infection. Sperm retrieval is also able to help men with a very low sperm count (non-obstructive azoospermia) become fathers.
Until the early 1990s, couples faced with these issues would have had no hope of having children using both of their genes. The advent of ICSI, where a single sperm is injected into each female egg, has changed that, allowing even a few retrieved sperm to be adequate for fertilisation.
PESA and TESE procedures do not require an overnight stay. The procedures normally take less than one hour using local anaesthetic and/or IV sedation. Patients can leave after a recovery period and disruption of normal activities is limited.
We have developed a fast track pathway for oncology patients who are about to undergo chemotherapy or radiotherapy and wish to freeze their eggs or sperm to preserve their fertility. For women, the egg freezing process takes between 12 and 14 days from the day of starting ovarian stimulation up to egg collection. We have developed our own protocols to make sure that the stimulation process starts without delay, regardless of the day of your cycle, and to minimise significantly the risks of any potential side effects so that there is no unnecessary delay of your chemotherapy. It is critical for such a service to be available 7 days a week.
For men, the sperm can be frozen on the same day. We also provide services for alternative methods of sperm collection should a patient have difficulty producing sperm, including PESAs. We can again accommodate these on the same day they are requested.
The early embryo consists of a ball of cells surrounded by a protective outer shell called the zona pellucida. In order to implant into the lining of the uterus the embryo needs to break out of this shell by a process called ‘hatching’. It has been suggested that in some cases failure to reach pregnancy may be caused by the embryo being unable to break out of the zona pellucida to complete this process. The technique of Assisted Hatching aims to facilitate the hatching process by creating a small hole in the zona pellucida on day 3 by which, a few days later, the subsequent blastocyst will be able to hatch out of the shell.
Who is Assisted Hatching recommended for?
- Patients whose embryos show thickening of the zona pellucida
- Patients of advanced maternal age
- Patients with elevated FSH
- Patients with history of repeated IVF failure
- Patients having treatment using frozen eggs/embryos
There is emerging evidence that for a minority of patients – particularly those with poor prognosis – Assisted Hatching improves the clinical pregnancy rate.
In the early days of IVF, embryos were transferred to the uterus as soon as possible (because embryos did not survive much longer than three days). We are now able to grow embryos in a much more efficient way, which means we are able to wait and select the best embryos around day five post fertilisation and transfer these into the uterus – in a similar timeframe to that of a normal pregnancy. This is called blastocyst stage transfer.
Blastocyst transfer is not suitable for every patient. It can be difficult to predict on day three which embryos are more likely to produce a pregnancy and, as a result, transferring fewer embryos at the blastocyst stage has become popular, particularly in younger women with a good prognosis for pregnancy and occasionally following failed IVF cycles. Properly culturing embryos to blastocyst grade is difficult, however the latest information shows that over 75% of all the embryo transfers are at blastocyst grade, this is one reason we have the highest success rates per embryo transferred across all ages.
Genetic Services in Fertility
Our comprehensive range of genetic services can be grouped into four categories:
- Preconception & Familial Risk
- Pre-Implantation Screening
- Early Pregnancy
- Family Follow-Up
Preconception and Familial Risk
When starting a family, everyone hopes that above all, they will have a healthy child. In some families, there is a history of a recurrent health problem that has a clear genetic cause. In other families a child has been born ‘out of the blue’ with a rare genetic condition. But in most families, the risk of a hereditary health problem is not clear or obvious. For couples or individuals who are hoping to start a family – regardless of whether you need fertility treatment – you may be thinking about how to ensure the risks of inherited conditions in the next generation are reduced.
At Lifeline we are dedicated to providing cutting edge and thoughtful genetics services for you and your family. For those with a family history of a genetic condition, our Genetic Counsellor can offer advice, genetic testing and discussion of options going forward to reduce the risk of having an affected child. In the absence of a specific family history, you can opt for our pan-ethnic genetic screening test, double marker to assess if you are at increased risk of having a child with a rare genetic disorder. Our Genetic Counsellor will guide you through these genetic tests and the implications of results for you and your family.
Preimplantation screening (genetic testing) of embryos prior to implantation in the womb is an established, but still fast-developing area of medical science. We offer two different forms of embryo genetic testing, which have different purposes:
PGS – Preimplantation Genetic Screening
PGS – Preimplantation Genetic Screening – is a test aimed at improving the outcome of IVF treatment. The test counts the number of chromosomes to help select the embryo with the best chance of giving an ongoing healthy pregnancy. Traditionally, embryos are chosen according to their appearance under the microscope after three or five days of development in the incubator. However, in the past few years additional techniques of selection have been introduced which use high-tech methods to test embryos for genetic and chromosomal information called Preimplantation Genetic Testing for Aneuploidy (PGT-A also known as PGS). All chromosomes can be assessed and only embryos identified at low risk of chromosome abnormalities are selected for embryo transfer.
What is chromosome aneuploidy?
Chromosome aneuploidy describes the condition in which there is an incorrect number of chromosomes in an embryo. In a normal embryo there are 22 pairs of chromosomes plus two sex chromosomes. One of each pair is inherited from our mother and father in the egg and sperm in fertilisation. Most aneuploidies are lethal to the embryo and are a major cause of IVF failure and miscarriage. In rare cases, they result in abnormal pregnancy and an affected child. The majority of aneuploid embryos (90%) occur when eggs with extra or missing chromosomes are fertilised. Sperm cells may also cause aneuploidy but the prevalence is usually lower (around 10%).
Who will benefit from PGT-A (PGS)?
All women in their late thirties and early forties should consider this option, especially if they have already had unsuccessful IVF treatment or miscarriage. Aneuploidy screening may improve pregnancy and live birth rates, because only those embryos with normal numbers of balanced chromosomes are selected for transfer. If all embryos are found to be aneuploid, screening will enable you to make an important decision about embryo transfer and IVF treatment.
How can we detect aneuploidy?
A skilled embryologist removes one or more cells from each embryo. The cells are sent to a laboratory to examine the number of chromosomes in the embryo using an embryo screening method known as “Next Generation Sequencing” (NGS).
PGD – Preimplantation Genetic Diagnosis
PGD – Preimplantation Genetic Diagnosis – is a test aimed at couples who are at high risk of having a baby with a known, severe, genetic condition. This test diagnoses which embryos will be affected with the condition with the aim of selecting only unaffected embryos for transfer into the womb.
One child in every 100 babies born inherits a genetic condition that can often have a devastating impact, not only on a child but also on the family. Detecting if an inherited genetic disease before pregnancy is becoming an increasingly precise science. Preconception testing can identify healthy carriers at genetic risk, whilst preimplantation genetic testing for monogenetic disease (PGT-M also known as PGD) can be offered to couples wishing to avoid the risk of having a child with a genetic disease.
PGT-M (PGD) has revolutionised the prospects of parenthood for couples who are known carriers of, for example, the cystic fibrosis gene mutation. By identifying and transferring those embryos without the mutation, carrier couples can be reassured that their baby will not be affected by a severe genetic condition. This technique provides a valuable alternative to conventional prenatal diagnosis by chorionic villus sampling (CVS) or amniocentesis.
Who is PGT-M (PGD) suitable for?
PGT-M is suitable for people who have a serious genetic condition themselves, or who are carriers of conditions that is currently licensed by the Human Fertilisation and Embryology Authority (HFEA) for PGT-M. The list of PGT-M conditions can be found on the HFEA’s website. The risks for these conditions are usually evident in family history, which is why couples hoping to avoid transmission to a baby are often referred by their family doctors or they refer themselves.
What can PGT-M (PGD) identify?
Most of the disorders that PGT-M (PGD) can prevent are those associated with abnormalities of a single gene or a single chromosome. The most common are Cystic Fibrosis, Beta Thalassaemia and Sickle Cell Anaemia. This testing is also used for rare genetic conditions and presently, the Human Fertilisation and Embryology Authority (HFEA) lists more than 300 single gene defects for which PGT-M (PGD) is approved. Cystic fibrosis, for example, may be evident in a family. A child born to two carriers of the Cystic Fibrosis genetic alteration will have a one-in-four chance of having the disease. PGT-M (PGD) can test the embryos for evidence of the genetic alteration and ensure that only unaffected embryos are transferred – removing any risk of the baby inheriting the disease.
PGT-M (PGD) requires knowledge of the exact mutation to develop a specific test for its identification in an embryo. This can lead to a wait of many months for a test to be developed before IVF can be started. Professor Alan Handyside, Consultant in Preimplantation Genetics at the LWC, has pioneered a faster version of PGT-M called ‘Karyomapping’ that can test for conditions in a much shorter time frame than conventional PGT-M (PGD). This is the current ‘gold standard’ for preimplantation genetic testing for single gene disorders.
Testing for genetic risk
We uses a comprehensive, focused male and female questionnaire and consultation with a clinician to recognise couples at genetic risk. Following a review of your family history, genetic tests may be recommended and the implications the test for you and your wider family will be carefully explained. If indicated, we offer:
- Specific genetic tests related to infertility
- Karyotyping (chromosome analysis) to identify any chromosome abnormalities
- Carrier testing for specific genetic diseases based on ethnic background and family history
Screening for genetic problems in pregnancy can take many forms. In recent years, research has shown that genetic material from the pregnancy is found floating in the pregnant mother’s blood, and can be isolated for testing (this is sometimes called ‘free fetal DNA’ or ‘cell free DNA’). There are a number of uses of this technology, which can be provided at Lifeline:
NIPT (Non-invasive prenatal testing- Daisy)
Not all patients will opt for PGT-A or it just might simply not be available, if that’s the case, we can still check that your pregnancy is healthy by offering a test in early pregnancy – this is NIPT. This test is performed at around 10 weeks of pregnancy by a simple blood test. The benefits of NIPT are that it gives you early reassurance that your pregnancy isn’t affected by chromosomal problems such as Downs Syndrome of Pataus Syndrome or Edwards Syndrome (all aneuploid conditions). There are no risks to the baby with NIPT because we are taking blood from the mother and we are looking for fetal or baby cells within her circulation to check that they are chromosomally normal.
Chorionic Villus Sampling
Chorionic villus sampling (CVS) is a prenatal test that involves taking a sample of tissue from the placenta to test for chromosomal abnormalities and certain other genetic problems. CVS is offered in pregnancies where there is a high risk of the baby having a serious inherited condition.
- Family history or previous child with a genetic disease, or chromosomal or metabolic disorder
- Maternal age over 35 years by the pregnancy due date
- Risk of a sex-linked genetic disease
- Previous ultrasound with questionable or abnormal findings
Fetal Blood Sampling (Cordocentesis)
Fetal blood sampling is a procedure to take a small amount of blood from an unborn baby (fetus) during pregnancy.
Amniocentesis is a procedure used to obtain a small sample of the amniotic fluid that surrounds the fetus during pregnancy. Amniocentesis is not offered to all pregnant women. It’s only offered if there’s a higher chance your baby could have a genetic condition.
There is an inherent contradiction in genetic information, it is simultaneously the most private thing about us, and something by definition that we likely share with our relatives. If you or a relative are a healthy carrier of, or affected by, a genetic condition, then this in turn means that other people in the family could be at risk of carrying the same gene. Once information about genetic risk has been shared in the family, the next question that people will ask is where they can get advice about these risks, and possible access to genetic testing.