Monthly Archives: January 2009

Birth of first UK baby screened for genetic breast cancer

The first baby to be screened for alterations in the breast cancer-causing gene, BRCA1, was born last week. The child was at risk from inheriting the gene from her father, who has women in three generations of his family who have been diagnosed with breast caner in their twenties as a result of inheriting the defective gene.

breast_cancer22 Paul Serhal, the fertility expert who treated the couple at the Assisted Conception unit of University College Hospital, London, said: ‘This little girl will not face the spectre of developing this genetic form of breast cancer or ovarian cancer in her adult life. The parents will have been spared the risk of inflicting this disease on their daughter. The lasting legacy is the eradication of the transmission of this form of cancer that has blighted these families for generations.’

The BRCA1 gene, when properly functioning, can help prevent breast cancer, but abnormal variations can significantly increase the risk of developing breast cancer. Females born with the affected gene face a 50-80 per cent risk of contacting breast cancer and a 40-60 per cent chance of developing ovarian cancer.

In 2006 the UK’s Human Fertilisation and Embryology Authority (HFEA) permitted fertility clinics to perform pre-implantation genetic diagnosis (PGD) – a procedure whereby embryos are tested for various conditions, the healthy ones are re-implanted and those that are affected are discarded – to test for this type of gene that makes carriers susceptible to a disease but that does not necessarily lead to disease in all cases. BRCA1 and BRCA2 account for around five per cent of breast cancers and it is thought that roughly 37,000 women in the UK carry BRCA1.

pgd1The couple concerned, who wish to remain anonymous, underwent IVF despite being fertile. A single cell was removed from the 11 embryos created when they were at the eight-cell stage and tested for the defective BRCA1 gene, revealing that only five of the embryos were free from the gene. Two of these were implanted into the mother’s womb, of which one, a girl, pgd21 successfully implanted to develop until birth.  The remaining three healthy embryos were frozen in case the parents want more children in the future. The six embryos carrying the defective BRCA1 gene were discarded.

Given that the breast cancer is increasingly curable and that carriers of the gene do not necessarily develop the disease (and vice versa), questions have been raised over the ethics of the procedure. Josephine Quintavalle, of the campaign group Comment on Reproductive Ethics (Core), told the BBC that she believes the procedure is a step too far, as it gives the message that ‘you are better off dead, than being born with this gene’. She added: ‘I hope 20 years down the line we will have eradicated breast cancer – not eradicated the carriers’.

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Garfield Forever

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The Perils Of Being Older Dads

Women with older partners may be at higher risk of suffering miscarriages irrespective of their own age, according to a study that has linked the increased chance of a failed pregnancy with men over the age of 40. Until now it was widely assumed that miscarriage rates largely increased with female age only, but a study into women undergoing artificial insemination with their partner’s sperm has found that it can also be linked with older men. Scientists also found that pregnancy rates fell as the male partner gets older. This may reflect a decline in sperm quality in men over 40 that affects both the chances of conception and the increased risk of a miscarriage, they said. It is the first time scientists have discovered such a strong paternal effect on rates of pregnancy and miscarriage, and they suggest that, in future, fertility clinics should look more closely at the age of men as well as the age of women when advising on treatment. Stephanie Belloc, of the Eylau Centre for Assisted Reproduction in Paris, said: “Until now … the message was to get pregnant before the age of 35 or 38 because afterwards it would be difficult. But now the gynaecologists must also focus on paternal age and give this information to the couple. ‘Fertility clinics should look more closely at the age of men’ “We suggest that there is a link between paternal age and DNA decay in the spermatozoa because we previously demonstrated that age is associated with increased sperm DNA fragmentation. So maybe there is a link between paternal age and DNA decay that are implied in the miscarriages. “I think it’s important to consider not only the woman, but both members of the couple in natural conception, but also in assisted reproductive technology [such as artificial insemination and IVF].” The scientists analysed data gathered at a fertility clinic that performs artificial inseminations directly into a woman’s uterus, a technique which improves the conception rate. They followed up 21,239 cases of these intrauterine inseminations to see whether the age of the man or the woman had any significant effect on the chances of conception and miscarriage. As expected, they found maternal age was a strong factor in pregnancy rates, with just 8.9 percent of women over the age of 35 getting pregnant, compared with 14.5 percent in younger women. ‘We also found that the age of the father was important in pregnancy rates’ “But we also found that the age of the father was important in pregnancy rates – men over 35 had a negative effect,” said Belloc. “And, perhaps more surprisingly, miscarriage rates increased where the father was over 35.” The study – the results of which were to be released at the European Society for Human Reproduction and Embryology in Barcelona – found the miscarriage rate among women with partners aged between 35 and 39 was 18.1 percent, but 33 percent for the partners of men aged between 40 and 44. Couples undergoing assisted reproductive technology where the man is older than 35 or 40 should consider using the technique of intracytoplasmic sperm injection (ICSI), for directly injecting single sperm into an egg, because then the best sperm could be chosen for fertilisation, Belloc said. “It’s the conclusion of my study that ICSI should be the [technology] of choice when paternal age is increasing because we can choose the best spermatozoa. “We can choose spermatozoa without DNA fragmentation, and DNA fragmentation is increasing with paternal age. So it is a way to be free of paternal age.”

Older dads

TV presenter Des O’Connor’s wife, the Australian singer-songwriter Jodie Brooke Wilson (35), gave birth to their son Adam in September 2004. O’Connor, then 72, claimed: “It felt like the right time.”picture-1

US presidential hopeful John McCain was 48 when he and his wife Cindy had their first child together, the now-award-winning blogger Meghan McCain. They have since had two more.picture-2

There were a few sleepless nights at the Playboy mansion in the early 1990s when a sexagenarian Hugh Heffner fathered sons Marston and Cooper by his fiancee Kimberley Conrad.picture-4

When Leo Blair was born in 2000, 47-year-old Tony became the first serving prime minister to have a baby in more than 150 years.picture-3

Actor David Jason became a dad for the first time aged 61 when his daughter, Sophie Mae, was born.picture-6

A 56-year-old Michael Douglas welcomed Dylan Michel into the world in 2000, then married the mother, Catherine Zeta-Jones, soon afterwards. The couple had a daughter three years later. picture-5

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The genetic miracle behind the double mixed-race twins

The same genetic process which gave Dean Durrant and Alison Spooner’s first set of twin daughters different skin colours has been at work again. They first defied the odds in 2001 with Lauren, who has her mother’s blue eyes and red hair, and Hayleigh ,who has her father’s darker skin. But in a phenomenon compared to lightning striking in the same place twice, the latest additions to their family, newborn twins Miya and Leah, also have different coloured skin. The combined effects of several different genes working together are thought to determine human skin tone. Unlike identical twins, who are genetically the same, the girls come from two separate eggs which were each fertilised by different sperm. That means that they each have different genetic input from their parents. Just like Hayleigh, Maya’s skin colour has been more influenced by her father’s genes than her mother’s while for Lauren and Leah it is the other way around.

The phenomenon is so rare that there are no statistics to illustrate the probability of it happening, although it is thought likely to become more common because of growing numbers of mixed-race couples. In 2005 Kylie Hodgson and Remi Horder, from Nottingham, had twin girls, one white with blonde hair and the other black.Unlike Dean Durrant and Alison Spooner, both parents were of mixed race with white mothers and black fathers, meaning that the girls’ dramatically different skin colours were the result of a complex combination of genes from their grandparents.picture-7

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The Response To Terrorists

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We Did Not Even Have 15 Seconds in Mumbai!

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Preparing for your IVF treatment

Your Emotional Preparedness:

There are many complex emotions that you will be encountering as you are anticipating your IVF cycle. If you are using donor eggs, donor sperm, or a surrogate, the emotions that you have will be even more splintered, as you also must consider the weight of genetics in this equation.

Before you proceed with IVF, you will want to speak with a psychotherapist that is trained in infertility. There are some very natural concerns that you will have and feelings that you will be confronted with. Your therapist can give you gentle guidance as you navigate through these new features, in your pursuit of pregnancy.

Some emotions that you can expect to have are:

• Loss or mourning over lost pregnancies, cycles that failed before and possibly even the loss of your ovaries. If you are having IVF, there is a strong likelihood that you have encountered a great loss to get there. It is natural that you will feel grief, as you are anticipating your cycle.

• Fear of not being a “real” parent is another very normal emotion that you may experience as you are preparing for your IVF cycle. Your child will not be any less than your child, and you will be no less their mother. You’ll still be the one they turn to, when they fall off their first bike. You’re just like any other pregnant woman, only you will have fought harder to get there.

. Being afraid that it won’t work after all of the time, money and emotions that you’ve invested in the procedure is natural. The truth is, it may not work and you need to understand that prior to moving forward. Your counselor will help guide you in this matter.

. You may feel scared that you will let down your donor, if they are a friend or family member. You may feel as though you are personally disappointing someone, who went through an enormous quest to help you, if the cycle fails. It’s important to know that you have no control over the outcome and they have been counseled in the possibilities of a failed cycle, prior to the retrieval.

Don’t be concerned if you start to question the decision to utilize IVF, donor eggs or sperm. When you are faced with a huge decision it’s not unusual to falter now and then. This is a big step and it takes some getting used to.

Finally, after all of these concerns and emotions, you may also feel something you haven’t felt in a long time; you may feel hope. Donor eggs may not be a certainty and IVF may not be 100% successful; but you can permit yourself to enjoy a dash of hope, in your anticipation.

Your Physical Preparedness:

As your cycle approaches, there are a few things that you can do to prepare yourself. It goes without say that you should limit your caffeine intake, eliminate smoking, and drinking alcohol. Light to moderate exercise is beneficial to both your emotional and physical well-being, which ultimately is good for your reproductive health. Consult your doctor before you start a new fitness plan and it’s important to remember that a rigorous routine should be omitted.

Remember that you’re not just preparing for IVF, you’re preparing for a pregnancy. It’s recommended that women who are attempting pregnancy begin taking folic acid, prior to conception and you may want to include prenatal vitamins, in your daily routine. This will create the best environment for your fetus.

A diet that is high in leafy greens, fruits, vegetables, calcium as well as protein, is optimal for your pregnancy. You may want to talk to your doctor or nutritionist about foods that would be most beneficial to you, during your pregnancy, or even to help you build a pre-pregnancy meal plan, to prepare you for conception. Do not begin any restrictive diets, such as low-calorie or low-carbohydrate. Though it’s not ideal to be overweight in pregnancy, this is not the time to start a weight loss plan. You can read more about fertility enhancing food on –  https://therotundaramblings.wordpress.com/2008/09/27/foods-that-make-you-fertile/

The month prior to your transfer your doctor may ask you to participate in a mock cycle, to show that you and your donor respond properly to your respective hormone therapies. The endometrium used to be accessed via biopsy, but this technology did not prove itself reliable. Today you will most likely have an ultrasound about 10-12 days into your estrogen-enhanced cycle to measure your endometrius.

You may need to start birth control pills to regulate your cycle so that you can synchronize with your donor’s. You may also be asked to use a gonadotropin releasing hormone (GnRH) antagonist, which inhibits the luteinizing hormone (LH) surge; so that your own cycle does not get canceled and the uterine lining is ready for the implanted embryo.

You may still feel unprepared when it is time to begin your cycle, but that is completely normal as well. You may never feel completely prepared. The important part is that you have made your decision and are headed toward the next step in your pursuit to have your child.

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