Three-parent babies: ‘As long as she’s healthy, I don’t care’, says mother of IVF child

Sharon Saarinen gave birth to Alana after four failed IVF attempts. But doubts remain about the technique her clinic used

In May 1997, the first child was born as a result of a controversial IVF technique which involved mixing the genes of three people. Today, Emma Ott, of Pittsburgh, Pennsylvania, is a healthy American teenager who routinely scores straight As at high school.

She was one of 17 IVF babies born after cytoplasmic transfer, when a small quantity of cytoplasm – the jelly-like material outside the cell nucleus – from a healthy donor egg was injected into an egg cell of her mother before being fertilised in vitro with her husband’s sperm.

The only other child from the group who has been publicly named is Alana Saarinen, 13, of West Bloomfield, Michigan, whose mother Sharon underwent cytoplasmic transfer of her IVF embryos in 2000 when she was 36 after four failed IVF attempts.

“I think it was the only thing that helped me. If there were risks, it didn’t matter. I wanted a child too much at that point,” Mrs Saarinen told The Independent. “It was definitely the right thing to do.”

Read more:
One girl, three parents? A medical dilemma
Government accused of dishonesty over regulation of new IVF technique
This is a scientific breakthrough we should be celebrating
What's wrong with having three parents?

Jacques Cohen, who was then at the Institute for Reproductive Medicine and Science at Saint Barnabas Medical Centre in New Jersey, had pioneered cytoplasmic transfer as a way of boosting the chances of a successful IVF cycle. It was thought that the extra cellular material from the donor egg helped the mother’s egg to fertilise and develop into a viable IVF embryo.

But in the process, some of the cytoplasm’s mitochondria – the microscopic “power packs” of the cell – would have also been transferred, along with the 37 genes encoded within the self-replicating DNA molecule carried inside each mitochondrion.

This means that Emma and Alana, along with the 15 other St Barnabas teenagers, very likely inherited DNA from three people: the mitochondrial DNA of the woman who donated the egg for cytoplasmic transfer, as well as their mothers’ mitochondrial DNA and both parents’ nuclear DNA carried in the chromosomes.

It is not known how many of the transferred mitochondria would have survived and replicated within the developing embryos. Tests on Emma failed to find any “third party” mitochondrial DNA, while Alana has never been tested.

“She’s not been tested because as long as she’s healthy, I don’t care,” Mrs Saarinen said.

But in at least two other children Dr Cohen did find mitochondrial DNA from two “mothers”.

Blood tests on two of the IVF babies revealed they carried mitochondria from two women, which would mean that these babies, if they were female, could pass on this mixture of mitochondrial genes to their own children – our mitochondria are inherited from our mothers only.

In effect, this was germ-line genetic modification because it meant that this mix of genes would be inherited by subsequent generations through the maternal line.

Cytoplasmic transfer involves fusing the egg-cell nucleus of the affected mother with an egg cell from an unaffected donor Cytoplasmic transfer involves fusing the egg-cell nucleus of the affected mother with an egg cell from an unaffected donor (PA)

When news of the creation of “GM babies” emerged in 2001, it created headlines around the world because it effectively meant that scientists had carried out a form of “germ-line” genetic modification on humans for the first time – something that was illegal in Britain.

The notion that this was germ-line genetic modification was not hidden in Dr Cohen’s scientific paper, published in the journal Human Reproduction in May 2001. The summary or abstract at the start of the study ended with the stark sentence: “This report is the first case of human germ-line genetic modification resulting in normal healthy children.”

This explosive revelation has come to haunt Dr Cohen, and indeed the whole field of mitochondrial transfer. The Department of Health, for instance, ruled earlier this year that the Government does not define mitochondrial donation as a form of genetic modification, although it accepts that it is germ-line therapy that will affect future generations.

The department argued that the 37 genes of the mitochondria are only involved in energy production within the cell and have nothing to do with personality or physical traits, so it is wrong to say that mixing mitochondria would result in “GM babies”.

When we asked Dr Cohen whether cytoplasmic transfer, with its inherent risk of creating babies with genes from three people, was a form of genetic modification, he replied in an email: “A good question! I personally do not think it was, because no genes were altered.”

Then why did the scientific paper state that this was the first example of genetic modification, we asked in reply.

“[It] only appeared in the abstract. It had appeared in the paper as well when it was drafted, but the discussion was removed after debate among the authors before the paper was submitted. The language in the abstract should have been removed during the printing process. This was an oversight,” Dr Cohen explained in a subsequent, and final, email exchange.

In fact, this is not quite right. The discussion section of the paper clearly states: “These are the first reported cases of germ-line mtDNA [mitochondrial DNA] genetic modification which have led to the inheritance of two mtDNA populations in the children resulting from ooplasmic [egg cytoplasm] transplantation.”

It continued: “These mtDNA fingerprints demonstrate that the transferred mitochondria can be replicated and maintained in the offspring, therefore being a genetic modification without potentially altering mitochondrial function.”

One in six couples experience infertility in the UK One in six couples experience infertility in the UK (AFP) Whether or not the technique of cytoplasmic transfer amounted to germ-line genetic modification, the publicity it generated in 2001 stirred the US Food and Drug Administration (FDA) to crack down on the private fertility clinics where it was being offered.

In 2002, the FDA informed IVF clinics that using a third person’s cytoplasm, and the mitochondria contained in this cellular material, would require an Investigational New Drug (IND) application, because it was effectively a new and untested treatment. The administration threatened Dr Cohen and the other IVF clinics with “enforcement action” over “therapy involving the transfer of genetic material by means other than the union of [sperm and egg]”.

“This is the same permit format used to license new medical drugs,” Dr Cohen explained.

“We applied to have our procedure licensed and went through the pre-IND process in 2002 and 2003. The FDA was helpful and intelligent. In 2003, the IVF clinic went private and the research team moved elsewhere. The permit process was ceased, because funding was lost,” he said.

A decade later, in February 2014, the FDA looked again at the issue of cytoplasmic transfer in IVF because of the new interest in the United States over mitochondrial donation, the so-called “three-parent” embryo technique being considered in Britain involving the wholesale transfer of mitochondria from one egg cell to another.

In its review of mitochondrial donation, the FDA highlighted its concerns over the 17 babies born as a result of cytoplasmic transfer. It cited reports of two instances of Turner syndrome, where children are missing one of their two sex chromosomes, and one instance of pervasive developmental disorder, a classification which includes autism.

“However, the sample size was too small to draw any reliable conclusions concerning the relationship of the cytoplasmic transfer method to the occurrence of disorders in the children,” the FDA said.

Dr Cohen said that none of the 17 IVF children was actually born with Turner syndrome, and that the FDA was referring to two unborn foetuses where it was diagnosed – one was miscarried and the other, a twin, aborted.

“[A missing sex chromosome] is the single most common anomaly found in early pregnancy. Whether these anomalies were related to the procedure is unknown,” he said.

“The fact is that the parents could not become pregnant on their own or after conventional IVF. This could have also been the cause of the [missing sex chromosome],” he added.

As for the instance of pervasive development syndrome diagnosed in one of the 17 babies in the first year of life, Dr Cohen is adamant that this, too, could have just been a coincidence. “Male twins have a significantly higher rate of pervasive developmental disorders; however whether the outcome was related to cytoplasmic transfer is unknown,” he said.

What happened to this child and the rest of the children since then is not known. Now, it seems, the Institute for Reproductive Medicine and Science at Saint Barnabas Medical Centre in New Jersey has finally embarked on a follow-up study to find out.

Start your day with The Independent, sign up for daily news emails
Life and Style
A monstrous idea? Body transplants might no longer be science fiction
Science An Italian neurosurgeon believes so - and it's not quite as implausible as it sounds, says Steve Connor
Demba Ba (right) celebrates after Besiktas win on penalties
footballThere was no happy return to the Ataturk Stadium, where the Reds famously won Champions League
Arts and Entertainment
Natural beauty: Aidan Turner stars in the new series of Poldark
arts + ents
Mia Freedman, editorial director of the Mamamia website, reads out a tweet she was sent.
arts + ents
Arts and Entertainment
The write stuff: masters of story-telling James Joyce, left, and Thomas Hardy
arts + ents...begging to differ, John Walsh can't even begin to number the ways
Image from a flyer at the CPAC event where Nigel Farage will be speaking
ebooksA special investigation by Andy McSmith
Latest stories from i100
Have you tried new the Independent Digital Edition apps?
Independent Dating

By clicking 'Search' you
are agreeing to our
Terms of Use.

iJobs Job Widget
iJobs General

Recruitment Genius: Bookkeeper

£23000 - £26000 per annum: Recruitment Genius: This small, friendly, proactive...

Recruitment Genius: Photographic Event Crew

£14500 - £22800 per annum: Recruitment Genius: This is a fantastic opportunity...

Recruitment Genius: Software Developers - .NET / ASP.NET / WebAPI / JavaScript

Negotiable: Recruitment Genius: A Software Developer is required to join a lea...

Austen Lloyd: Corporate Tax Solicitor - City

Excellent Salary: Austen Lloyd: A first rate opportunity to join a top ranking...

Day In a Page

HIV pill: Scientists hail discovery of 'game-changer' that cuts the risk of infection among gay men by 86%

Scientists hail daily pill that protects against HIV infection

Breakthrough in battle against global scourge – but will the NHS pay for it?
How we must adjust our lifestyles to nature: Welcome to the 'Anthropocene', the human epoch

Time to play God

Welcome to the 'Anthropocene', the human epoch where we may need to redefine nature itself
MacGyver returns, but with a difference: Handyman hero of classic 1980s TV series to be recast as a woman

MacGyver returns, but with a difference

Handyman hero of classic 1980s TV series to be recast as a woman
Tunnel renaissance: Why cities are hiding roads down in the ground

Tunnel renaissance

Why cities are hiding roads underground
'Backstreet Boys - Show 'Em What You're Made Of': An affectionate look at five middle-aged men

Boys to men

The Backstreet Boys might be middle-aged, married and have dodgy knees, but a heartfelt documentary reveals they’re not going gently into pop’s good night
Crufts 2015: Should foreign dogs be allowed to compete?

Crufts 2015

Should foreign dogs be allowed to compete?
10 best projectors

How to make your home cinema more cinematic: 10 best projectors

Want to recreate the big-screen experience in your sitting room? IndyBest sizes up gadgets to form your film-watching
Manchester City 1 Barcelona 2 player ratings: Luis Suarez? Lionel Messi? Joe Hart? Who was the star man?

Manchester City vs Barcelona player ratings

Luis Suarez? Lionel Messi? Joe Hart? Who was the star man at the Etihad?
Arsenal vs Monaco: Monaco - the making of Gunners' manager Arsene Wenger

Monaco: the making of Wenger

Jack Pitt-Brooke speaks to former players and learns the Frenchman’s man-management has always been one of his best skills
Cricket World Cup 2015: Chris Gayle - the West Indies' enigma lives up to his reputation

Chris Gayle: The West Indies' enigma

Some said the game's eternal rebel was washed up. As ever, he proved he writes the scripts by producing a blistering World Cup innings
In Ukraine a dark world of hybrid warfare and murky loyalties prevails

In Ukraine a dark world of hybrid warfare

This war in the shadows has been going on since the fall of Mr Yanukovych
'Birdman' and 'Bullets Over Broadway': Homage or plagiarism?

Homage or plagiarism?

'Birdman' shares much DNA with Woody Allen's 'Bullets Over Broadway'
Broadchurch ends as damp squib not even David Tennant can revive

A damp squib not even David Tennant can revive

Broadchurch, Series 2 finale, review
A Koi carp breeding pond, wall-mounted iPads and a bathroom with a 'wellness' shower: inside the mansion of Germany's 'Bishop of Bling'

Inside the mansion of Germany's 'Bishop of Bling'

A Koi carp breeding pond, wall-mounted iPads and a bathroom with a 'wellness' shower