Getting a diagnosis that the baby has a problem and needs neonatal surgery

While some parents were given a diagnosis of their baby’s condition at the first scan, it was common for people to have to wait to see a fetal medicine specialist to find out more. This often meant there were several days of anxious waiting, with very little information to go on. It was a worrying period, parents wanted both information and certainty but understood that was not possible, and in some cases half wanted not to know. Parents often felt they were in limbo, not knowing how serious the condition was, and even if their baby was going to be able to survive.

We grieved I think for the baby we thought we were going to have and the baby that we were going to have.‘ Fiona

‘I remember keeping ask, keep asking what were the odds, the percentage and they were very reluctant to give us any sort of, you know, 75 survive 25 don’t they said its very much an individual case by case basis they have to have to a better look at it, monitor him as he grew in the womb’ Louise

Alison describes how she and her husband were told it wasn’st clear if their baby was going to be able to survive.

Parents said they recalled vivid memories of their next appointment with the fetal medicine specialist. Claire said sitting in the waiting room for that meeting felt very odd, ‘just a very other worldly kind of experience’. Some felt they were lucky with their consultants, who were kind and reassuring. Others were upset by what they experienced as a blunt or cold manner. Amy chose to change hospital because of this.

This was often the stage at which the option of terminating the pregnancy was discussed, although none of the parents in our sample took this option (see also ‘Before finding out the baby has a problem – going for antenatal scans‘). Because all of the people who took part in our study were people who had experience of neonatal surgery, we did not include people who chose to terminate a pregnancy. But you can read more about people who did make this choice on our website Ending a pregnancy for fetal abnormality.

Claire’s consultant was kind and reassuring. He offered her an amniocentesis, which she agreed to, as she was keen to get as much information as she could.

Age at interview 34

Age at diagnosis 33

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Amy had researched exomphalos* at home and so was clear she wanted to give her daughter a chance. She found the consultant’s manner very negative.

Age at interview 39

Age at diagnosis 33

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Although parents were often given a diagnosis at that second appointment, they might also be encouraged, as Claire above described, to have further tests, including an amniocentesis or CVS, to rule out other congenital anomalies or genetic problems. Some of the conditions doctors were testing for would have been very serious, such as Edwards’ syndrome*, a condition which babies usually cannot survive. Parents were relieved to receive the all-clear on these other complications and were almost relieved to have just a single diagnosis such as a congenital diaphragmatic hernia (CDH)*. None of the exomphalos* parents had other problems detected but some had major associated difficulties after birth.

Jane was terrified of having a CVS, but relieved that it came back clear for Edward’s syndrome. Her daughter’s exomphalos paled into insignificance.

Sally-Anne and Simon had an amniocentesis and were relieved it showed their son just had exomphalos. She knew they were in for a tough road, but they knew they wanted to continue the pregnancy.

Once they had been given a diagnosis, parents were understandably keen to have as much information as possible about what it meant for their baby, and what the likely outcomes were going to be. They were often told at this stage their baby would need surgery, but doctors were unable to give them firm facts and figures on how well their baby would be when it was born, and the extent of surgery and care they would need.

Louise waited three days for her son’s diagnosis for congenital diaphragmatic hernia (CDH)*, and then she wanted to understand his chances of survival.

Age at interview 32

Age at diagnosis 26

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Harry and Michelle’s son had just been diagnosed with gastroschisis*. They wanted to know more about rates of success for the surgery and what the long term effects might be.

Once the diagnosis had been confirmed, parents started on a pathway of regular tests, transfer to a hospital with a specialist surgical centre, planning the birth and tried to enjoy the rest of their pregnancy as much as they could.

*Footnote definitions:

Edwards’ Syndrome
A serious genetic condition, caused by too many chromosomes, also known as Trisomy 18.

An abdominal wall defect, that occurs when the baby’s tummy wall does not develop fully in the womb. Some of the baby’s intestines and sometimes other organs such as the liver, develop outside the tummy and are covered by the umbilical cord.

Congenital Diaphragmatic Hernia (CDH)
A hole in the diaphragm, the sheet of muscle that separates the chest and abdomen.

An abdominal wall defect, that occurs when the baby’s tummy wall does not develop fully in the womb. A hole is present next to the umbilical cord through which the baby’s intestines protrude into fluid around the baby while in the womb, and outside the baby’s tummy after birth.