Hampshire mother says life of daughter could've been different with genetic screening
It comes as newborn screening takes place across Southampton in a new trial
A Hampshire mother says if genetic screening of newborns had existed when she'd given birth - her daughter's life could've been different.
It comes as genetic screening is introduced at the University Hospital Southampton - looking for more than 240 conditions in newborn babies.
Hana Young's 13-year-old daughter Tilly has a rare condition which requires her to need round-the-clock care.
She said: "Getting her diagnosis felt like the genetic golden ticket, but then I realised from talking to other families, that if she'd been diagnosed sooner, things would have been more effective.
"A lot of the damage that's been done is irreversible, but it has now stopped from progressing.
"I had to grieve the life she didn't have,
"It was quite a slow realisation of 'oh, it really would have made a huge difference'.
"Every year that she wasn't diagnosed for has set her back."
Hundreds of mothers have taken part in the new 'Generation Study' at Princess Anne Hospital in Southampton.
The study, which is led by Genomics England in partnership with NHS England, aims to recruit 100,000 babies nationally.
It uses whole genome sequencing to look for genetic conditions where early diagnosis could lead to earlier treatment and improved outcomes.
Dr Linden Stocker is a consultant in foetal maternal medicine and is involved in the 'Generation Study'.
She said: "The women who take part or the families that take part in this study consent to taking part in the study while they are still pregnant.
"They approach our study team here at Southampton, and then the studies are explained to them in some detail.
"Then if the families wish to go forward and take part, then when the baby is born, a sample is taken from the baby's umbilical cord after birth.
"Then from that point on, parents don't hear anything until there is testing performed on that baby, and if a suspected result is then found within the baby."
She told us what happens if a condition is detected.
Dr Stocker said: "It's felt that if the condition is detected within a baby, that instigating that treatment or surveillance programme might result in a better outcome for that baby and child.
"For the families who do find themselves in the unfortunate situation of having a true diagnosis as a result of further testing, ongoing from the 'Generation Study'; they are then offered expert care from that point onward."