From disbelief at Down diagnosis to joy and delight

Prompted by the media response to UK research published last week, the Sun-Herald investigated local statistics, and published this report today. It was accompanied by a delightful photoraph of Ian and Jo Smith with their children:

From disbelief at Down diagnosis to joy and delight
by Jessica Mahar, Sun-Herald (Sydney) 01/11/2009

Ian and Jo Smith knew their third child would have Down syndrome from the time Ms Smith was 15 weeks pregnant. A 12-week screening showed a one-in-six risk but the couple wanted to be sure.

When the result came back positive, Ms Smith, 43, could hardly believe the results. "I thought I was going to be sick, I had no idea how I was going to cope with it and I probably cried for three days and then I didn't cry any more. Then we just started our research."

Their daughter, Catherine Rose, was born three weeks ago.

"I went through that, feeling guilty about the impact it would have on my other children and who would look after Cate when we've gone," said Ms Smith, from Sydney's eastern suburbs.

"My five-year-old saw me crying a lot. He heard me saying the words Down syndrome so I told him his sister has got something called Down syndrome and it means she might take longer to do things and she might need more help from us."

The number of diagnoses of Down syndrome in NSW has increased as women have delayed motherhood.

But the number of babies born with the syndrome has dropped as prenatal screening has improved and more people have chosen to terminate their pregnancies.

In 1995, there were 140 diagnoses of Down syndrome and, of that number, 113 ( 81 per cent ) were born. The rest were either stillbirths, neonatal deaths or terminated.

Figures from 2005 reveal 211 cases, with 73 babies born (a 35 per cent birth rate).

A 20-year-old woman has a one in 1411 chance of having a baby born with Down syndrome. Ten years later, at 30, the risk rises to one in 959. At 40 it is one in 84 and at 45 it's one in 32.

Down Syndrome NSW information and services director Jill O'Connor said she was worried people didn't have enough time or information when they were told the news.

"We're not convinced that people are getting all the information that they might like to have when they are making these decisions," she said.

"We want them to know what Down syndrome is and we'd also like to see people not being made to make quick decisions."

Ms O'Connor has a 24-year-old son with the condition, who was diagnosed at birth. "Nearly every child who is diagnosed with Down syndrome is going to be a wanted baby," she said. "People are still being given very negative information and very often the assumption of health professionals and family professionals is if you have a diagnosis you will terminate."

Andrew McLennan from the Royal Australian and New Zealand College of Obstetricians and Gynaecologists said screening had improved but it needed to be offered to all.

"This is all about choice," he said. "It's certainly not about running a program seeking to increase the terminations for abnormalities."


Genetics counsellor Mona Saleh, who works for the Centre for Genetics Education, said the statistics showed a change of demographics in prenatal testing.

"There are more people being screened now than 10 to 15 years ago," she said. "It was only older mothers who were being offered testing."

The Smiths say they would not have it any other way.

"We would not swap this journey," Ms Smith said. "I wouldn't even swap the Down syndrome because our family has just now come together.

"I don't even see the Down syndrome when I look at her. She's the joy of my life."

This information was presented in a table, highlighting the increased diagnoses and termination rate:

The 1995 birth rate of foetuses diagnosed with Down syndrome.
 140 cases of Down syndrome were diagnosed.
 113 babies were born with the disorder.
 27 terminated, stillborn or neonatal death (vast majority terminated)

The 2005 birth rate of foetuses diagnosed with Down syndrome.
 211 cases of Down syndrome were diagnosed.
 73 babies were born with the disorder.
 138 terminated, stillborn or neonatal death (vast majority terminated).
Source: NSW Mothers and Babies reports