The overwhelming majority of parents whose children have cystic fibrosis want gene therapy trials to go ahead, bypassing normal research guidelines.
Great Ormond Street Hospital scientists hope to test gene therapy on children.
But, in a Journal of Medical Ethics paper, they suggest ethical worries about testing on children without prior tests on adults will prevent the work.
They fear studying adults, whose lungs are by that stage badly affected, would not show if children could benefit.
One in 25 people carry the faulty gene which causes the condition.
“There are scientific and medical reasons why the treatment might work better in children”
Dr Adam Jaffe, Great Ormond Street Hospital
Cystic fibrosis experts said it was recognised that gene therapy trials needed to be carried out on those who might benefit.
A survey of 78 parents of children with cystic fibrosis by GOSH researchers found virtually all were in favour of gene therapy trials going ahead, and just over 90% would enrol their own child.
Just over half hoped gene therapy would lead to a cure for CF.
Aim ‘to halt damage’
Cystic fibrosis is the most common single gene disorder in white Caucasians.
It is a life-limiting inherited genetic disease which affects the digestive and respiratory systems work.
While people born with CF now can expect to survive in to their 40s, the average age of death is currently 23.
GOSH researchers plan to use a vector – such as a non-infectious virus – which can take a healthy copy of the gene into the lung cells of children with the condition.
Dr Adam Jaffe, who is leading the Great Ormond Street work, said there were important issues to consider when deciding if such trials should be permitted – but children’s health was at stake.
“We could be denying children life enhancing treatment on inadequate grounds.
“There are scientific and medical reasons why the treatment might work better in children.
“The main aim is to halt the decline in lung damage, which begins soon after birth so it makes sense to start treatment in early childhood.
“Children are not little adults; and this is particularly true in cystic fibrosis.”
He added: “It is possible that if the gene therapy trials were carried out in adults we would not see a benefit as the mucus in the lungs of adults may act as a barrier and stop the gene from getting in.
“Furthermore, inflammation can be more serious in adults so they may suffer more severe side effects from some vectors which help to get the gene into the cell.
“There is evidence from other research that gene transfer may happen differently in growing and adult lungs”
A spokesman for the CF Trust, which is planning its own gene therapy trial, said: “As cystic fibrosis is a progressive illness we recognise that it is necessary for gene therapy trials to be conducted on those who will receive clinical benefit.
Professor Eric Alton, of the UK Cystic Fibrosis Gene Therapy Consortium, said studying patients over 12 was a balance between patients being too young – with healthy lungs where you could not see a difference after treatment, and being too old – where their lungs would be in too poor a condition.
He said there was probably an “optimal window” where testing would show reliable results.
“Too many” babies are still being born by caesarean section
The number of women having Caesarean sections has not fallen, despite experts calling for rate to be cut.
Figures for 2004/05 show one in four women still deliver by Caesarean – the rate has doubled in two decades.
The Royal College of Midwives warns women and babies may be exposed to unnecessary risk.
National guidelines were issued in 2004 saying that pregnant women should be discouraged from having a Caesarean if they do not need one.
In 2004/05, 23% of women delivered by Caesarean compared with 22.7% in the previous year – around half were emergency Caesareans.
Over the past five years the proportion of women delivering by Caesarean has increased from one in five deliveries to one in four.
“If they feel it’s safe it’s difficult to dissuade women that they shouldn’t have one”
Professor James Walker, expert in high risk births
Experts say they want to reduce the number of women who have operations they do not need – often dubbed “too posh to push”
The World Health Organization says the rate should be between 10 and 15%.
The rate varies between different hospitals in the UK – from 15 to 30%.
Just under half of women have a ‘normal’ delivery with no surgical intervention, no use of instruments, no induction, and no epidural or general anaesthetic.
The Royal College of Midwives said the figures were disappointing as one in four babies being delivered by Caesarean was “simply too many”.
Deputy General Secretary Louise Silverton said: “Women may choose Caesarean section due to their fear of the labour, because it is suggested by a doctor, or they see media stars having caesareans as a ‘lifestyle choice’.
“Although Caesareans are comparatively safe, they do involve major abdominal surgery and can mean that a new mother women may not be able to fully enjoy the first few weeks of their baby’s life, as they cope with the realities of having had a major operation with an abdominal scar, the after effects of an anaesthetic, and possible complications from the surgery, such as wound infection and more seriously – bleeding, blood clotting and bladder injuries.”
Guidelines from the National Institute of Health and Clinical Excellence say women should be told that, although they would avoid labour pains, and complications such as bladder problems or prolapse of the womb, women who have Caesareans are more likely to have a blood clot or need further surgery.
Professor James Walker, consultant obstetrician at St James University Hospital in Leeds, said some areas of the country had been more successful than others in cutting caesarean rates.
“The changes are patchy, some areas have relaxed their efforts.”
He said the rate was probably “not necessary”.
“But it’s not just the hospital, it’s the women and it’s society – if they feel it’s safe it’s difficult to dissuade women that they shouldn’t have one.”
A Department of Health spokesman said: “The caesarean section rate remains the same and the rate of births with no intervention has increased by 2%.
“There has been an increase in ceasareans over the last 20 years, due in part to increased safety in the procedure and technical advances which have enabled clinicians to identify complications earlier.
“Government policy, in line with the NICE guidelines, recommends that clinical interventions, including elective caesarean section, are only performed if there is clinical evidence of expected benefits to the mother or baby and that a consultant is involved in the decision to undertake any caesarean.”
I know that a braxton is a tightening of whatever, however I don’t notice tightenings any more, My bump goes solid and stays that wayfor most of the evening, and the only tightenings I feel is a build up of presure low down as if baby is trying to come out. I have emptied more times than I care to admit, and am peeing for England, Wales, and Scotland combined, regardless of whether I have drank loads or practically nothing. I can’t sit comfortably no matter what type of chair I use and we have a choice! lol Any ideas how to ease the pressure feeling, as these days I feel more like I want to push lo out, than go to the loo! On top of this I have also started getting a really bad wind problem. It’s not offensive just letting out loads more than I usually do!
IVF may increase the risk of a potentially dangerous complication of pregnancy, Norwegian research suggests.
Placenta praevia is a condition in which the placenta covers part or all of the cervix, blocking a baby’s passage into the birth canal.
Researchers calculated the risk rose from about three in 1,000 pregnancies in the general population, to 16 in 1,000 for women who had had IVF.
The study of 845,000 cases is detailed in the journal Human Reproduction.
“A substantial proportion of the extra risk may be attributable directly to factors relating to the reproduction technology”
Dr Liv Bente Romundstad
The study, by a team at St Olavs University Hospital, in Trondheim, also found a three-fold higher risk among mothers who had had two pregnancies, once conceiving naturally and once with assistance through IVF, or ICSI, in which a sperm is injected directly into an egg.
The risk rose from seven in 1,000 births for women who had had two natural conceptions, to 20 in 1,000 births for women who had had one natural conception, and one assisted conception.
The researchers took factors such as the age of the mother into account.
Placenta praevia can cause haemorrhaging in the mother, and increases the risk of a premature birth, and problems during delivery.
Small studies have suggested in the past that placenta praevia is more common after the use of assisted fertility techniques.
The Norwegian study was much larger, considering data on over 845,300 pregnancies.
The researchers believe it is the first time an increased risk of placenta praevia has been directly linked to the reproductive techniques used.
Lead researcher Dr Liv Bente Romundstad focused on the 1,349 women in the study who had conceived spontaneously in one pregnancy and after assisted fertility in the other.
“Regardless of whether it was the first or second pregnancy that was conceived through assisted reproductive technology, we found a nearly three-fold higher risk of placenta praevia.
“This suggests that a substantial proportion of the extra risk may be attributable directly to factors relating to the reproduction technology.”
The underlying mechanism causing the placenta praevia is not clear.
It is possible that IVF may trigger contractions, leading to embryos implanting lower down the uterus than in natural conceptions.
Alternatively, doctors may position the embryo lower down the uterus in order to improve implantation rates.
The researchers are calling for fertility clinics to record the position of every transferred embryo.
Dr Peter Bromwich, from the Care fertility clinic in Northampton, described the study as “fascinating”.
He said: “I have not come across this suggestion before. I already do measure the position of transferred embryos, but I will start to record it too now.”
However, he added: “Placenta praevia is a rare condition, and the fact that it might be a little less rare in IVF pregnancies should not be a cause for concern for people having the treatment.”
Dr Mark Hamilton, chairman of the British Fertility Society, said: “Patients who are considering IVF treatment should discuss concerns with their gynaecologist in advance of treatment and those who are pregnant might want to discuss this with their obstetrician.”
The Human Fertilisation and Embryology Authority said the research would be carefully considered by its Scientific and Clinical Advances Group.
Pyjamas found at the scene are clues to finding the mother
A newborn girl whose body was found in a Warwickshire river had suffered several injuries including a fractured skull and collarbone, police have said.
The baby’s body was found in Aston Cantlow near Stratford-upon-Avon on 11 May by a family walking along a footpath on the River Alne.
Police have named her Lily, a reference to the water where she was found.
Children’s and women’s clothing were recovered from the scene and police said they are “significant” clues.
Det Ch Insp Adrian Pearson, of Warwickshire Police, said Lily was found in a Tesco bag.
“Baby Lily has a family, she has a mother, grandparents, brothers and sisters perhaps” Det Ch Insp Adrian Pearson
She was newly born and still had her umbilical cord attached.
Mr Pearson said: “Since the discovery of her body, we’ve been able to establish that she suffered significant and traumatic head injuries after she was born.
“We believe that she died very soon after birth, but that she didn’t sustain those injuries in the course of birth or in the course of pregnancy. They were inflicted on her very soon after she was born.”
The discovery of clothes and other items nearby, including women’s underwear and tea towels, could be a cry for help, police believe.
Mr Pearson showed an artist’s impression of Lily as well as photographs of items found in the “big bag of clues”.
“Baby Lily has a family, she has a mother, grandparents, brothers and sisters perhaps,” he added.
Artists have created an impression of baby Lily
“But we need to know her background and how she came to lose her life in tragic circumstances.
“She had not been cared for at all. There were no nappies or anything.”
Included in the bag were a pair of women’s pyjamas, size 12-14, sold by BHS in 2002, a pair of women’s pants, size 12, from Debenhams, and a collection of tea towels.
“[The towels] were not wrapped around her, they were not comforting her or dressing her, they were just abandoned in the bag with her,” said Mr Pearson. “Why did someone do this?”
A dishcloth and a pair of black socks were also found inside the Tesco bag which was left along with a Mothercare bag.
Shards of electric flex were found nearby and a woman’s belly button ring with a turquoise stone was found in a nearby layby.
Lily was discovered at a remote scene, six miles from Stratford and four from Alcester on 11 May.
Police now believe it had been left there by 1900 BST on 10 May.
Despite numerous appeals for information about the body, police had only taken 30 calls in the last 10 days.
My daughter Krystall was diagnosed with Hypoplastic Left Heart Syndrome (HLHS) at my 20 week scan. Hypoplastic left heart syndrome is a complex and life limiting Congenital Heart Defect. Meaning the child is born with the condition. The left side of the heart, valves, arteries, etc do not grow correctly in the womb. Hypoplastic Left Heart Syndrome is a rare condition that occurs in around 1 in 5000 babies and accounts for 1% of all Congenital Heart Disorders.
The heart is made up of 4 chambers. The right Atrium (blood collecting chamber), right Ventricle (blood pumping chamber for the lungs). Left Atrium (blood collecting chamber), left Ventricle (pumping chamber that pumps oxygenated blood to the body). The right side of the heart does the work for both sides
There are 3 options if diagnosed before birth:
Option 1: Termination. Option 2: Take baby home to pass away naturally. Option 3: 3 stage surgery. Surgery only prolongs the life of a Hypoplastic Left Heart Syndrome sufferer. It is not a cure.
The first stage surgery, (Norwood Procedure) is performed a few days after birth. The second stage surgery (Bi-directional Glenn Shunt) is performed between 3 months and 9 months old. The third stage surgery is (Fontan) performed at school age. There is also possibility for transplant at teenage / adult years.
Krystall is on medications. These are: Frusemide (a loop diuretic) to help her to urinate to stop water build-up. Loop diuretics act in the kidney to remove excess water from the blood, by causing an increase in the removal of salts such as potassium and sodium. Spironolactone ("potassium sparing" diuretic ) Spironolactone inhibits the action of aldosterone causing the kidneys to excrete salt and fluid while retaining potassium. Too much water build-up will put strain on the heart and possibly cause heart failure. Captopril an angiotensin-converting-enzyme inhibitor (ACE inhibitor) to her make heart function stronger. Heart failure is not where the heart stops. It is where the hearts muscle is not pumping as well as it should.
A child with Hypoplastic Left Heart Syndrome will develop their skills at roughly the same age as other children. They will be able to ride bikes, play football (not competitively), run and walk. Although they will get out of breathe quicker and need to rest more frequently. Krystall will have to attend follow up outpatient appointments all her life.
If any of your LOs got a rash with the MMR jab, can you tell me how long it lasts?
Ellie started with a rash last night – it is on her belly and chest and her cheeks and forehead – I assume it is the measles rash, it does disappear under pressure so I’m not worried about it but I just wondered how long it might last as she’s in nursery tomorrow and I’m not sure they’ll take her with a rash even if it is just a reaction…