PATAU’S AND EDWARDS’ SYNDROMES
Trisomy 13 was named Patau’s Syndrome after the doctor who identified the chromosomes responsible in 1960, and trisomy 18 or Edwards’ syndrome was named after Dr John Edwards for the same reason.
Trisomy 13 and 18 births occur about once in every 1,800 pregnancies and are the most common autosomal trisomies after trisomy 21, which is also known as Down syndrome. Trisomy 13 affects equal numbers of boys and girls whereas babies with trisomy 18 are three times more likely to be girls.
In the 12 months April 2008 to April 2009 there were 172 diagnoses of Patau’s and 495 diagnoses of Edwards’ syndrome. 91% of Patau’s and 92% of Edwards syndrome diagnoses were made prenatally, and 65% of Patau’sand 68% of Edwards’ pregnancies were terminated. It is estimated that there were 18 live births with Patau’s syndrome and 37 live births with Edwards’ syndrome. (National Down Syndrome Cytogenetic Register Annual Reports 2008/09 - data are provisional).
‘Katie survived for 9 days. She was born with two large holes in her heart; so she did not stand much chance of any life. Naturally we were all devastated, but knowing that she had such a poor quality of life made the pain a little easier to bear.’
‘Laura was rushed to SCBU and put on a ventilator. I was told she weighed 2lbs 10oz by the midwife and was sent a photo of her. She looked like a beautiful and perfect baby’.
‘Due to my anxiety and the suspicion of a small for dates baby I was admitted at 39 weeks for observation. I was monitored for three days; the baby showed signs of fetal distress due to mild contractions. An emergency caesarean was performed and Joanne was born weighing 3lbs 12oz. The only obvious abnormality was the corneal eye opacities. She also appeared to be very underdeveloped for a full term baby. 3 weeks later blood tests showed that Joanne had trisomy 18’.
‘Little Susan was delivered by caesarean section 5 weeks early and everyone expected her to survive only hours, possibly days. From the scan we also thought (quite wrongly) she was going to be horrendously disfigured. In hospital the goal posts kept moving. I felt in a bottomless pit, every time I began to pull myself up another piece of information on her condition would put me back down’.
‘I was happy and laughing right to the end of my labour when I finally gave birth to our son. Then the world stopped. All I could see was our baby with a cleft lip. My husband says he will never forget my face. Each day another thing was found to be wrong with Ellis. Then at 5 days old his chromosome tests were complete. He had trisomy 13 and would not live long’.
‘When Jacqueline was born I thought the world was over. But then it became a real joy, knowing that I had been given a chance to look after this very special person. You always think it will not happen to you; but when it does it is amazing. That’s when you realise how wonderful it can be’.
‘When we first realised Elliott had abnormal chromosomes, the extent of his problems were still unknown. All we knew was that we loved him desperately and would try to move heaven and earth to make his life as comfortable as possible’.