Special Report: Four families explain the importance of the 20-week fetal anomaly scan

There is no easy way to tell parents at any stage of pregnancy that their baby has a severe fetal abnormality and may die in the hours or days after birth. But delivering a late diagnosis only adds to the trauma and grief. So say the doctors and parents who spoke to Health Correspondent Catherine Shanahan about the importance of a 20-week fetal anomaly scan.

Special Report: Four families explain the importance of the 20-week fetal anomaly scan

’We looked at each other and held our breath... she told us to prepare for the worst’

It was Thursday afternoon, October 3, 2013 and the O’Donovans were headed for Cork University Maternity Hospital (CUMH), excited and delighted at the prospect of a 12-week pregnancy scan.

“We were laughing and joking about how we would break the news to our little boy Cillian (then seven months old) and how they would be great company for each other. We couldn’t wait for the new addition,” says Collette O’Donovan.

The mood changed as the sonographer conducted the 12-week scan.

“She became a little quiet. I remember thinking ‘Oh she’s just concentrating’. We were able to see our little baby dancing on the screen.”

Their hearts sank a little when the sonographer suggested the baby’s head measurements may not be right.

“We looked at each other, and held our breath. The sonographer went to talk to a consultant and when she came back, she eventually told us to prepare for the worst. I was expecting to hear news that maybe our baby had a disability of some sort,” says Collette.

They subsequently met with Dr Keelin O’Donoghue, specialist in maternal and fetal medicine. She carried out an ultrasound and Isabelle was diagnosed with a condition called anencephaly (neural tube defect), Collette says.

She remembers asking what could be done to fix it. The answer was devastating. Isabelle would not be compatible with life and had no chance of survival outside the womb.

“That phrase ‘not compatible with life’ makes me shiver to this day. It felt like our hearts had been ripped out,” Collette says. They decided to go ahead with the pregnancy regardless.

As the pregnancy progressed, the couple was encouraged to find out the sex to help the bonding process. It was a girl. They called her Isabelle.

“Carrying a baby that you know won’t survive makes you cherish every kick. I hoped and prayed that baby would make it to through the pregnancy and that I would get to see her awake and hold her. I used to love going to my GP for my check-ups as I got to hear baby’s heartbeat. It was so strong. I was sure she would make it,” says Collette.

The early diagnosis allowed them organise to have their little girl photographed at birth to capture precious memories. They bought little outfits and planned her funeral with the help of local priests in Cobh.

They were put in touch with bereavement counsellors. They had more time to digest the diagnosis and to deal with their grief. Collette says she’s smiling in the photographs taken the day after Isabelle was born because she had “the rest of my life to cry”.

Isabelle was due on April 12 but arrived on February 20, 2014. The couple headed for CUMH when Collette went into labour, notifying the hospital that they were on the way.

“We had a care plan in place and it was followed to a T. They took such good care of all of us. I had an amazing midwife that made me feel safe, everything was so calm.

“I was about to hold baby Isabelle. The anxiety and grief I had felt over the last few months had somehow melted away for that short time in the labour ward. It was out of my hands and there was nothing I could do to change the outcome,” says Collette.

As Isabelle’s heartbeat faded during labour, a little bit of Collette died inside. When she was delivered less than an hour later, there was no baby cry and her body was lifeless, something that will stay with Collette for the rest of her life.

“Someone said to me that Isabelle spared me from seeing her take her last breath, I believe that now. She was perfect. All she knew was love. We all have a life span, Isabelle’s was shorter than most at 32 weeks and 4 days,” says Collette.

They had planned on donating her organs but at 2lb 12oz, she was too small to be a candidate.

Cillian O’Donovan, aged 3, with his sister Amelia and holding a picture of his sister Isabelle.
Cillian O’Donovan, aged 3, with his sister Amelia and holding a picture of his sister Isabelle.

Collette is grateful that an early diagnosis allowed them time to process the news and to plan how they would spend the little time they had with their child. Equally, it allowed staff prepare for the birth.

“I was able to wash and dress her, I was able to organise to have photographs taken of her and now I have pictures of her in my house and she is part of our family.”

Five months ago, the news was better and Collette and Tom welcomed baby Amelia Belle into the world.

“I look forward to the day I get to hold and kiss Isabelle again but in the meantime I’m going to continue to cherish my two babies I have on earth as I know Isabelle is watching over us all,” says Collette.

She also looks forward to the day when all pregnant women attending CUMH can avail of a fetal anomaly scan so that if the news is bad, they will have the opportunity to prepare as she did.

Expert views

Keelin O’Donoghue did not anticipate that in 2017, CUMH would still not be able to provide access to fetal anomaly ultrasound scans for all pregnant women.

Keelin O’Donoghue.
Keelin O’Donoghue.

Nóirín Russell regularly deals with cases of fetal abnormality. She says earlier ultrasounds and more consideration for the parents are needed.

Nóirín Russel.
Nóirín Russel.

Heartbreak made worse by the shortness of time

He made them a mam and dad, and for that, they’ll forever be grateful. His strength, courage and grace are the prism through which they view everything in life.

So says Sarah O’Reilly of the little boy who lived six brief hours, opening his eyes for a glimpse of his parents moments before passing away.

Paul and Sarah, from Midleton, Co Cork, discovered they were pregnant in January 2012. At week 12, Sarah underwent a dating scan at Cork University Maternity Hospital (CUMH).

She had a further scan at 16 weeks when there was slight concern at a lag in the development of the thigh bone but the advice was not to worry, it would catch up.

A 32-week scan left them devastated. “They were having trouble taking measurements. Midwives were flying in and out. I was sent to the fetal assessment unit for sharper screen shots. It took forever,” says Sarah.

Paul and Sarah O’Reilly with baby Adam during his brief six hours of life.
Paul and Sarah O’Reilly with baby Adam during his brief six hours of life.

They were asked to return the following day to meet with Keelin O’Donoghue, maternal and fetal medicine specialist, an indication that all was not well.

“She repeated the scan and talked to us at length and every sentence was more horrendous than the last. I heard the words ‘severe hydrocephaly’ [fluid on the brain]. There were question marks about fractures in his arm and problems with his lungs,” says Sarah.

With little time to digest the news, Sarah subsequently returned to hospital for a series of daunting tests. She prayed for a diagnosis of dwarfism or Down syndrome, something her child might survive, but in the end, the diagnosis was thanatophoric dysplasia, a lethal skeletal dysplasia characterised by shortened limbs, underdeveloped lungs and an enlarged head.

Adam was delivered at week 36 by scheduled C- section. “It was very surreal to know that the day he was born would also probably be the day that he died,” Sarah says.

She remembers Keelin saying, “Oh Sarah, he has a beautiful little face”.

Baby Adam O’Reilly.
Baby Adam O’Reilly.

Because their baby was was alive, Paul was sent next door to the recovery room, with his newborn. “I thought I’d never get out of theatre to hold him, I was terrified he would pass away. He had to work for every little breath,” says Sarah.

In the event, Adam got to meet his parents and grandparents for which Sarah is truly grateful, but part of her feels that, because she didn’t get the 20-week anomaly scan, the choice of whether to put her baby through those six hours was taken away.

“I don’t know what choice I would have made, but it should have been our choice. I think that choice is a very basic thing that should be given to all women,” she says.

Psychologically, the late diagnosis made it impossible to process or prepare for what lay ahead.

“We feel it’s a major part of having a late diagnosis, that the heartbreak and pain is made so much harder by the constraint of time. At that late stage it forces you to deal with the shock and grief in a way that you may not normally do.

We had to take in the diagnosis, the fatal outcome, breaking the news to everyone we know, becoming parents, a sick child, the death of a child and a funeral and go home and close the door on an empty nursery.

“Nobody is capable of processing all that in four weeks, and it is this that I struggle to deal with to this day.”

With the help of counselling, Sarah is only now processing what she went through. She is at peace with the fact that Adam’s passing “was the best thing for him”.

“But for us, the psychological effect of the late diagnosis is for life.”

In the hope that other couples can be spared their experience, Sarah and Paul feel staff at CUMH should be properly resourced to offer every pregnant woman a 20-week anomaly scan. Her two subsequent babies Dylan (2) and Abby (1) underwent in-depth scanning.

“But their brother had to die in order for that to happen,” she says.

No inking of fate that awaited

Orla O’Brien can vividly recall certain events amid the chaos of the delivery suite.

She remembers a nurse cutting the laces off her Converse trainers in her panic to get them off.

She remembers a scissors snipping through her clothes.

She remembers a midwife’s frantic but unsuccessful search for her daughter’s heartbeat in a delivery suite of staff who were clearly extremely worried about what was happening.

She remembers having to ask, amidst the panic, whether the baby which they were telling her to push out was dead or alive.

On December 27, 2011, Orla gave birth to a stillborn baby girl.

Orla O’Brien with her husband Ian and sons Eoin, 6, and Aidan, 3.
Orla O’Brien with her husband Ian and sons Eoin, 6, and Aidan, 3.

There was no inkling throughout her pregnancy of the fate that awaited little Siún, of the multiple undiagnosed anomalies.

Orla had not had the benefit of a fetal anomaly scan, routinely available to her Dublin-based friends attending maternity hospitals in the capital.

On the day itself, she had returned home to Clonakilty in the afternoon after spending Christmas with her in-laws in Macroom with husband Ian and 18-month-old son Eoin.

She was 38 weeks pregnant, and as she lay down for a nap, she was mindful of the fact that her first child had arrived at exactly that point in her pregnancy.

“I woke up at 2 o’clock and my waters had broken. They were very dark, not like with Eoin, which I knew was not normal. I rang the hospital and they said to come in.”

“By the time I got to Cork University Maternity Hospital (CUMH) at 3pm, I couldn’t get out of the car. My husband had to shout to passers-by for help and security brought a wheelchair. By 3.17pm, my daughter had literally been dragged out of me,” says Orla.

“While I understand that the doctors had to deliver her urgently in the hope there was something they could do to save her, the way the birth proceeded was extremely frightening and I genuinely feared for my life during it.”

At the end of the brief but brutal delivery process, Siún was born with no sign of life.

“After the birth I went into shock. They had to cover me in foil. I was shaking so much I couldn’t even hold her,” Orla says.

Her husband, Ian, was by her side throughout the birth.

More trauma was to follow.

An autopsy was required because it was an unexpected death. An explanatory booklet from the coroner’s office added to her grief. Its references to Garda involvement made Orla feel like the hospital thought she had done something to harm her baby.

A letter from the coroner less than three weeks later asking for details of her dead baby, including her marital status (“if married or widowed, name and occupation of spouse”) and also details of Siún’s occupation, filled her with anger and hurt.

Had nobody bothered to check the details of her child’s death? She wrote to them outlining her distress and subsequently received an apology.

The autopsy essentially found that Siún’s death was inevitable due to fatal fetal abnormalities which could have been diagnosed during a 20-week anomaly scan.

Because of the autopsy, Orla had to leave hospital without her baby. She returned to collect her on day four, stopping off at a baby boutique in Bandon along the way to buy her a little outfit.

Orla and Ian buried their daughter on New Year’s Eve.

Orla is telling her story now because she wants women and couples to understand the potential significance of not being offered a fetal anomaly scan. And because she hopes that by speaking out, more resources will be invested in such an essential service.

On a personal level, she feels robbed of time bonding with her daughter.

“Had I known in advance, I would have paid her more attention while I was pregnant,” she says.

Most importantly, foreknowledge would have allowed for a planned delivery, sparing Orla and Ian and hospital staff the brutality of what unfolded in the delivery suite and possibly allowing her to spend time with her daughter before she passed away.

Foreknowledge would also have offered more choice — had she known at 20 weeks what lay ahead for her daughter, she would have had time to reflect on her options.

Personally, she knows she would have opted to continue with the pregnancy, but feels strongly that any parent facing such a situation who chooses to terminate the pregnancy should be able to do that without having to travel abroad under a veil of secrecy.

Orla is also heartbroken that the speed and trauma of her child’s delivery left very little leeway for taking any photographs or creating any precious family memories. She has no photographs that she can share with her sons or anyone else.

Orla gave birth to Aidan 18 months after Siún, but found it hard during the pregnancy to let herself believe she would get to bring home a healthy baby at the end. This time she got plenty of scans, including the 20-week anomaly scan.

‘If we had had a 20-week scan, we would have had more time to come to terms with it’

The congratulatory messages were heartfelt but would have been tempered if people had realised the baby Elisa was carrying had a slim shot at life.

“When you are 32 weeks pregnant, everywhere you go, people are wishing you well and that was very hard to marry with the fact that my child might not survive,” she says.

Up to that point in her pregnancy, she had embraced the goodwill. But a scan changed everything.

It was 2015 and Elisa Serra Porteiro, originally from Galicia in Spain, and her husband, Ger Harrington, from Cork, were looking forward to expanding their little family, a brother or sister for three-year-old son, Nicolas.

Elisa Serra Porteiro holding the hand of baby Matías.
Elisa Serra Porteiro holding the hand of baby Matías.

The pregnancy was low risk. Elisa had a dating scan at Cork University Maternity Hospital (CUMH) at 12 weeks. At 28 weeks, the consultant thought her placenta was low-lying and told her to have it checked at the next scan. At 32 weeks, the panic set in.

“I went for a scan and they saw something was wrong. I went from one room to another, one midwife to the next, they were measuring the head,” Elisa says.

She was sent to the fetal assessment unit for a more thorough scan. She phoned her husband to come in.

“The scan confirmed there was something wrong with my baby. The brain wasn’t sealing at the back. I remember thinking at that moment ‘I am going crazy’. It was so out of the blue,” says Elisa.

She underwent amniocentesis three days later, a test for certain genetic defects. The results were normal. She also had two MRI scans with a view to establishing if postnatal surgery would be an option for her son Matías.

They met with a neurosurgeon in Crumlin but Matías’s suitability for surgery would not become clear until he was born.

At 37 weeks, Elisa went into labour and Matías was born by emergency C-section.

He had to be intubated and whisked to neonatal intensive care. It quickly emerged that his condition — occipitalencephaloele, the result of a neural tube defect — was incompatible with life. Elisa and Ger took the heartbreaking decision to take him off oxygen on day four.

Elisa is distraught that she never got the chance to deal with her grief in a private way.

People continued to congratulate this heavily pregnant woman while she knew Matías may not live.

“If we’d had a 20-week scan, we would have had more time to come to terms with it. I could have explored more options for how to tell Nicolas. He still asks ‘Why didn’t the baby that was in your tummy come home?’”

An early scan would also have allowed her consider her own options.

“I think I would have continued the pregnancy, I think I would have gone ahead hoping for the best outcome for my child,” she says, but in any event, she never had that choice.

She says she did ask for a 20-week scan at CUMH. The apologetic response was unless she had received an appointment letter, she would not be getting one

Elisa is now berating herself for not having gone for a private scan and is angry that pregnant women aren’t able to access optimal levels of care.

“This is an issue of trust, an issue of what is good care. We trust our doctors to provide that good care. I know for a fact if the resources were there for everyone to have a fetal anomaly scan, then the staff in CUMH would be doing it. But the reality is, they are not.”

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