Mum heads to Thailand in bid for daughter

A Melbourne woman is flying to Thailand to circumvent Australian guidelines which prevent families from determing the sex of of IVF babies.

The woman, known as Olivia, has three sons and says she has a strong desire to have a daughter.

"It's just something deep in me that I can't shake. I just feel this really strong wish to have a daughter to raise with my sons in a balanced family," she said.

"We conceived naturally for our three sons. This is not something we've taken on lightly."

Families are not allowed to choose the sex of a child through IVF in Australia under current guidelines and that is why she has to travel to Thailand for the procedure, which she estimates will cost about $15,000.

She says the treatment should be available in Australia.

"To me it's about providing choice but with parameters," she said.

"I don't think there is going to be a flood of women because this doesn't affect a lot of women."

Olivia says she is in touch with a number of other women who are also going overseas to obtain gender selection treatment.

Professor Loane Skene, from the University of Melbourne and a member of the Australian Health Ethics Committee, supports the plan.

She says Australians are allowed to travel to the United States to have a surrogate baby and does not see why Olivia and her family should be prevented from doing what they want to do.

However, Professor Skene does not think the law needs to be changed.

"I think many people are going to have sympathy for this sort of thing because it is such a strong human urge," she told ABC Radio's Jon Faine.

"It seems to me that the kerfuffle of going through IVF with all of the ups and downs and heartache of it all is not something that people are going to take on lightly quite apart from the cost."

Victorian Premier John Brumby has ruled out relaxing restrictions on access to IVF treatment in the state.

"There might be some particular cases where there is a medical case for saying that it's important to have a boy or a girl, but where it is non-medical, the Law Reform Commission and indeed the overwhelming body of advice on this suggests that it is not a requirement or a priority, in terms of changing policy," he said.

Germany green lights gene testing

Embryos created during in vitro fertilisation can be screened for genetic defects before being implanted in the womb, a landmark German court ruling says.

The Federal Supreme Court in Leipzig on Tuesday ruled in support of a Berlin gynecologist who had carried out screening on embryos for three different couples and implanted only those that were healthy. The embryos with hereditary genetic defects were left to die off.

The high court's ruling upheld a decision by a Berlin state court that the doctor's action did not violate German laws for the protection of embryos.

The 47-year-old doctor, who was not identified by the court, brought the case to court himself in 2006 to clarify the legal situation. He was first acquitted by a regional court in Berlin, but the city's state prosecutor appealed.

'The accused, a gynecologist who focuses on fertility treatment, has been acquitted of the allegation of threefold violation of the embryo protection law,' the court said in its verdict, ruling that in vitro fertilisation, without any restrictions, is allowed.

The doctor had treated three couples between 2005 and 2006 who could not get pregnant naturally. In all three cases, one of the partners carried the risk of a congenital genetic illness that would have 'very likely led to a miscarriage, the death of the newborn right after the delivery or the birth of a critically ill child,' the court wrote.

Judge Clemens Basdorf told German news agency DAPD that the examination of IVF embryos should be legal 'if there is a danger of grave genetic defects for the desired children of the patients.'

Three-person IVF may prevent inherited ills

British scientists have mastered a controversial artificial reproduction technique that could prevent incurable inherited diseases by swapping DNA between two fertilized human eggs.

Lead researcher Doug Turnbull of Newcastle University said on Wednesday he hoped the first babies free from so-called mitochondrial diseases would be born within three years.

But applying the technique in the clinic, to help women at risk of passing on the disorders, will require a change in British law that currently bans reproduction from such manipulated embryos.

Around one in 6,500 children are born with serious diseases caused by malfunctioning mitochondrial DNA, leading to a range of conditions that can include fatal heart problems, liver failure, brain disorders, blindness and muscular weakness.

The Newcastle team's technique effectively replaces mitochondria, which act as tiny energy-generating batteries inside cells, so a baby doesn't inherit faults from its mother. Mitochondria are only passed down the maternal line.

"What we've done is like changing the battery on a laptop. The energy supply now works properly, but none of the information on the hard drive has been changed," Turnbull said.

"A child born using this method would have correctly functioning mitochondria, but in every other respect would get all their genetic information from their father and mother."

Within a day of fertilization, using in vitro fertilization, nuclear DNA is removed from the embryo and implanted into a donor egg, whose own genetic material has been removed and discarded.

The resulting fetus inherits nuclear DNA, or genes, from both its parents but mitochondrial DNA from a second "mother."

For critics like Josephine Quintavalle of campaign group Comment on Reproductive Ethics that makes it "a step too far in meddling with the building blocks of human life."

IVF websites often mum on embryo gene test risks

Fertility clinic websites aren't doing a great job of explaining the risks of testing an embryo for genetic disorders before it's implanted in the womb, researchers found.

The procedure, known as pre-implantation genetic diagnosis (PGD), can be used to test for 5,000 different genetic disorders and, more controversially, choose the sex of an infant. But it's not 100-percent reliable, and could, in rare cases, cause harm to the embryo or even destroy it.

Dr. Robert Klitzman of Columbia University and his colleagues took a look at the websites of 83 clinics offering PGD to investigate how fully they explained these risks. Twenty-two of the clinics were based at hospitals or universities, and the rest were private, freestanding clinics.

Just 35 percent of the websites Klitzman and his team surveyed mentioned the possibility that the test could miss the target diagnosis, while only 18 percent mentioned the risk that the procedure could destroy the embryo. Fourteen percent described PGD as "new" or "controversial."

There were also differences in the sorts of information provided by hospital- or university-affiliated clinics and that offered by private clinics. For example, 18 percent of private clinics were more likely to mention the controversial practice of selecting gender without a medical reason for doing so, while none of the university- or hospital-based clinics did.

However, the private clinics did provide more extensive information about the risks and benefits of PGD; this is possibly because university- or hospital-based clinics can rely on the prestige of their affiliated institution, Klitzman suggested.

And while private clinics may have been more forthcoming with this information, he added, their websites still left a lot to be desired; for example, just 43 percent mentioned the risk of missing a target diagnosis, and 21 percent noted that PGD posed risks to the embryo.

The information that clinics offer on their websites is, in essence, advertising, and should be seen as such by consumers, said Klitzman, who directs a new master's program in bioethics at Columbia. He recommended looking for citations -- for example, in a respected medical journal -- for any claims made on a site.

"This also speaks to the need for physicians to have time to go over material with patients," he added.

The Twin Saviour Siblings Have Arrived

Twins born following IVF (in vitro fertilisation) treatment to select embryos which would be a tissue match for their elder brother are thought to be the first incidence in the UK of multiple 'saviour siblings'. Out of just twelve licences granted by the UK's regulatory body, the Human Fertilisation and Embryology Authority (HFEA), to permit families to use tissue typing to create a so-called saviour sibling, only this one has resulted in twins.

Laurence Maguire, 42 and Wendy Plant, 37, decided to try and have a saviour sibling when a worldwide search for a bone marrow donor for their eldest son, Connor, failed. Connor suffers from aplastic anaemia, a condition in which the immune system destroys parts of the bone marrow causing life threatening anaemia. The condition can be treated by with immunosuppressant drugs and regular blood transfusions, but the only prospect of a cure is to have a bone marrow transplant from a tissue-matched donor. Mr Maguire and Ms Plant created five embryos following IVF, two of which were found to be a tissue match for Connor and were implanted into Ms Plant.

The controversy over so-called 'saviour siblings' centres around the idea that couples might wish to have a child as a 'means to an end'. Some argue that this raises concerns over the welfare of the child, who may perhaps not feel as valued as they would if they were conceived under normal circumstances and may even be put under unreasonable pressure to 'save the life' of their sick sibling. However, speaking to the Daily Telegraph newspaper, Mr Maguire defended the family's decision to have a sibling to help their eldest son: 'Once you see your children, any notion that they are spare parts is gone. We wouldn't change anything, they are our children and we love them all. I never ever think that we didn't have the twins for the right reason.'

The twin's umbilical cord blood will be stored at St Helier Hospital in Carshalton in case their brother's condition deteriorates in the future.

Couple suing over child selection "blunder''

An Australian couple has launched an action in the Supreme Court of Victoria against the health services involved in an embryo testing procedure, after the mother gave birth to a boy instead of a girl. The couple had undergone IVF and PGD (preimplantation genetic diagnosis) at Melbourne IVF to enable doctors to select only female embryos to be re-implanted in an attempt to avoid haemophilia, an inherited disorder that only affects males. Instead,the mother gave birth to a baby boy, Jess, who doctors later confirmed is affected by the blood clotting condition. The couple are alleging that in no point during the pregnancy were they informed that the child was not a girl, and are now seeking compensation and
damages to pay for the child's care costs and other losses they will incur.
If the couple had been informed of the true sex of their child, they say they would have considered terminating the pregnancy. It is reported that the defendants will contest the action on the grounds that the couple did not make inquiries as to the sex of their child after ultra-sound scans and that the boy may have been conceived naturally.
Sex selection is permitted in Victoria only to reduce the risk of a serious genetic condition being passed to the child. The couple opted for the procedure to avoid passing on hameophilia, which also affects the boy's uncle. 'By choosing the IVF procedure, we hoped to never see a child suffer in this way again', the parents told reporters. 'At no stage did we want a
designer baby, we just wanted a healthy baby.''We love our little boy, but we are very sorry he has to go through so
much in his life', the couple said. 'We tried everything to avoid this situation, and now our boy has to go through all the pain and treatment in order to survive. We now face the fact that Jess will require treatment for the rest of his life'.
The action is being taken against Melbourne IVF, Ballarat Health Services, the couples' obstetrician and Bendigo Radiology. In documents lodged with the court, lawyers for Melbourne IVF say that a counsellor told the couple in 2003 that there was a risk of misdiagnosis with the PGD method. They also claim the couple signed consent forms, including one that stated 'If a pregnancy is achieved from biopsied embryos, we understand that further diagnostic tests are recommended to confirm the early embryo diagnosis'. No date has been set for the trial.

UK Couple to Test Embryos for high Cholesterol disorder

UK doctors are expected to receive permission to help a couple avoid passing on a hereditary condition that causes very high blood cholesterol to their children, according to the Times. The newspaper reports that a team lead by Paul Serhal, of University College London, will be granted a license by the Human Fertilisation and Embryology Authority (HFEA) this week. This will enable them to use preimplantation genetic diagnosis (PGD) to select embryos free from the gene mutation that causes both the mild and severe forms of familial hypercholesterolaemia (FH). One in 500 people in the UK has inherited the mild form of FH, although many of those with the condition are thought to remain undiagnosed. The condition can increase the risk of a heart attack in men under fifty by ten-fold. However, if treated through diet, exercise, lifestyle changes and
- in some cases - with statin drugs, this risk can be drastically reduced. FH also increases the risk of strokes and blood vessel failure, which can lead to limb amputations. In contrast to the mild form of the condition, which affects people who inherit just one copy of the faulty gene, there is also a severe form of FH that affects children who inherit a 'double dose' of the mutation. This 'homozygous' form of the disease leads to very high levels of cholesterol from the age of around five, and can often cause death in childhood. Unlike the mild form, it does not always respond well to treatment with statins or other drugs.
The couple seeking treatment at UCL both have mild FH, which they discovered only after having a daughter with the homozygous, severe form of the disease. There is a 25 per cent risk that any subsequent child will also inherit the severe form of FH, who, unlike their first child, may not respond well to treatment. There is also a 50 per cent chance that they will
pass on the mild form of the condition to their next and subsequent child, and a 25 per cent chance that each will be unaffected.
PGD involves taking a single cell from a 2-4 day old IVF embryo, performing a genetic or chromosome test on that cell, and then returning one or two unaffected embryos to the womb. In the UK, the use of PGD is regulated by the HFEA, which licenses the procedure on a case-by-case basis. The couple approached Mr Serhal after learning that his clinic offered PGD for hereditary breast cancer. If the procedure is successful, then the couple will be able to select one or more unaffected embryos to implant. However, if there are no unaffected embryos, then the couple will have to decide whether or not to select embryos that have the milder form of FH. Mr Serhal told the Times: 'This obnoxious disease can cause cardiovascular accidents at a very young age. Ideally, we will find embryos with no FH genes, but it is possible we will not and it will be up to the patients to choose. Some people would think twice about using embryos that they know have a risky gene, and others would say you shouldn't screen out a condition that can be managed so people can live with it. It will be an awkward choice'.

Preimplantation Genetic Diagnosis (PGD)

Although Rotunda does not presently offer any PGD services, I thought it worthwhile to educate our patients & readers about Preimplantation Genetic Diagnosis. Couples with a family history of a genetic disorder and older mothers are relatively more likely to have a baby with genetic birth defects. Preimplantation genetic testing and diagnosis (PGD) can help these parents dramatically improve their odds of giving birth to a healthy child. Embryos that have certain genetic defects develop improperly. Used with in vitro fertilization (IVF), PGD can help us select the best embryos and avoid specific birth defects.
In PGD, a embryologist removes one or two cells from each embryo created in the IVF cycle(see picture). The cells are tested for abnormal genes. Only the embryos that have normal cells are transferred into the woman. Since PGD is not 100% reliable and only tests for specific defects, parents should presently still use other prenatal genetic tests, such as amniocentesis or chorionic villus sampling. PGD is expensive and still considered an experimental procedure by the majority of IVF laboratories.
Presently, only couples with family history of genetic disease and women over age 35 are advised PGD. PGD can detect genetic disorders when the defect is understood. As we learn more about genes and gene defects, PGD will become useful for more patients. PGD can tell whether an embryo will become a boy or girl, and reveal certain genetic conditions, including Cystic fibrosis, Down Syndrome, Duchenne muscular dystrophy, Hemophilia A, Tay-Sachs disease, and Turner Syndrome.
Prior to PGD, many couples with a family history of severe genetic disorder may have decided against having children. PGD dramatically improves the odds of having a baby without the disorder. In some cases, biologists can see whether the embryo has the defect. Some disorders only affect male offspring, so that female embryos may be selected to avoid the condition even if the exact defect isn't understood.
PGD helps prevent the stress and trauma after an abnormal result from an amniocentesis or chorionic villus sampling. These prenatal genetic tests can only be performed after 10-12 weeks into the pregnancy. Patients who use PGD should follow up with one of these tests, but the odds of an abnormal result will be dramatically reduced.
PGD requires the removal of one or two cells from each embryo. The embryo development is slowed slightly, but is otherwise normal. Most embryos are not adversely affected by the procedure. Some embryos may be damaged during the removal. An embryo that the PGD detects as abnormal may be normal in a small percentage of cases. This embryo would not be transferred, even though it could have become a healthy baby. An embryo that the PGD detects as normal may be abnormal similarly. This embryo would be transferred, and would result in a miscarriage or child with birth defects. Because of this risk, other genetic tests, amniocentesis or chorionic villus sampling, should be performed. To decrease the false positive & false negative results, some IVF teams employ a combination of tests using more than one cell biopsies. Since PGD is performed using embryos from an IVF cycle, the patient should be aware of the risks of IVF. There may be too few or no embryos without the defect. The embryos may not implant and develop even if they do not have the defect. If you decide to pursue PGD, you will prepare for an IVF procedure. The woman will take hormones to stimulate the ovaries to produce many eggs. Just as in a normal IVF procedure, the doctor retrieves the mature eggs from the woman. The eggs are fertilized with sperm. After two days, the embryos grow to four to six cells. The biologist forms a small opening in the outer membrane of the embryo, the zona pellucida. This is a similar process to assisted hatching. The technician gently sucks one or two cells out of the embryo through the hole. These cells are then tested for genetic abnormalities. In most cases, all the cells of an embryo will have the identical genetic makeup. Therefore, the tested cells will show the genetics of the remaining, viable embryo. The remaining cells of the embryo are young enough that they will form a complete, normal fetus. The test itself is a standard genetic test. It takes less than 24 hours to perform, so that the patient follows essentially the same schedule as a standard IVF cycle.
Women over 35 are more likely to have eggs with an extra or missing chromosome (aneuploidy). In these cases, the laboratory will examine the cells to count the chromosomes that usually lead to severe birth defects. Each human chromosome has a number, except the X and Y chromosomes that determine gender. The biologist uses a technique called fluorescence in- situ hybridization (FISH) to attach a particular color to each 13, 16, 18, 21, X, and Y chromosome. The biologist counts the spots of each color for each cell (see picture). Normal cells will have two of each color for the numbered chromosomes, as well as two X chromosomes (female cells) or an X and a Y chromosome (male cells). For a family history of a disorder, the laboratory will test for the specific defect. The laboratory must first test cells from the parent who has the disorder or may be a carrier to determine the exact defect. The embryo cells are then tested in a process that uses FISH to see if they contain that exact defect. The test doesn't reveal other genetic defects. After the tests are completed, the best embryos without the defect are transferred into the woman's uterus as in a standard IVF cycle. Follow the recovery procedures for an IVF cycle. If you become pregnant, be sure to follow up the PGD with another prenatal genetic test.