“The only thing a prenatal diagnosis can provide is a first impression of who a child will be.”

 

A prenatal high chance or diagnosis of Down’s syndrome comes as just as big a shock to expectant parents as to parents who do not find out until birth. There are lots of conversations between parents as to which is the ‘easier’ way to find out.

 

A prenatal diagnosis means parents have had some time to process the news but they have lived with the worry of a higher chance of miscarriage and stillbirth(1). They have been asked, often several times to make ‘a choice’ and most likely overcome some negative and misplaced comments from the medical professionals looking after them. They have worried about how their child will be affected, what their needs will be, they have had sometimes difficult conversations with partners and probably had a few extra scans looking for ‘problems’. It was not an easy route but when baby arrives it is a time for celebration as parents finally get to meet their little one who has taken them on a different path to the one they expected at the beginning (2).

 

 

A postnatal diagnosis comes as a shock too, the longed for arrival isn’t as expected and no one quite knows what to say or how to respond. The tears flow even as a mother embraces her newborn, this is not what she wished for. These parents haven’t had months to adjust but have to rapidly catch up whilst caring for their new baby supported by maternity staff who may not know what to say or do. The consolation is they probably had a less stressful pregnancy, blissfully unaware of the adjustment they will have to make (3).

 

You’d imagine that one of the clear advantages of ‘knowing’ beforehand is that the maternity unit would be well prepared to support expectant parents and their little ones. You would think there would be a well researched pathway that all medical professionals could follow, making sure that these little ones are given the very best chance of arriving safely. You’d think there would at least be some national guidelines that identify what sonographers and consultants should be looking out for and what actions they should take. The sad fact is miscarriage and stillbirth rates are higher if the baby has Down’s syndrome but the sadder fact is that with better care and more supervision some of these deaths could have been prevented. We know babies with Down’s syndrome have a habit of arriving before their due date, we know the placenta might not be working as efficiently as it should and yet there is no clear plan as to how to manage these pregnancies to an successful outcome.

 

It is true a prenatal diagnosis doesn’t tell us of the full and love filled life that a child may have, the baby with Down’s Syndrome will write their own story just like any other child. But a prenatal diagnosis can have many advantages where care of mother and baby is research based and takes account of the possible complications, monitors appropriately and manages potential issues quickly should they arise. Sadly the Royal College of Obsteotricians and Gyneacologists has still not provided such a pathway despite much pressure from the Foundation and Positive About Down Syndrome. However we are proud to be working in collaboration with forward thinking practitioners who recognise the dangerous inconsistency in managing pregnancies where baby has Down’s syndrome.

 

You are probably not aware that just £16 per person with Down’s syndrome is designated for research (compared to over £200 per person with cancer). Of that paltry figure, £11 is spent on screening (4). The obsession with screening means improving the chances of wanted babies arriving safely is under researched and under funded. Please support the Foundation as we gather and commission research that helps inform and guide our health professionals.

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1 Sparks TN, Griffin E, Page J, Pilliod R, Shaffer BL, Caughey AB. Down syndrome: perinatal mortality risks with each additional week of expectant management. Prenat Diagn. 2016 Apr;36(4):368 – 74.

2 Skotko BG, Capone GT, Kishnani PS; Down Syndrome Diagnosis Study Group. Postnatal diagnosis of Down syndrome: synthesis of the evidence on how best to deliver the news. Pediatrics. 2009;124(4).

3 Van Riper, M. A change of plans. American Journal of Nursing 2003; 103: 71 – 74. & Enoch N Sharing the News Report and UK Survey 2019

Van Riper, M and Choi, H. Family-provider interactions surrounding the diagnosis of Down syndrome. Genetics in Medicine 2011; 13: 714 – 716.

Phillips, C & Boyd, M. Relationship-based care for newborns with Down syndrome and endocardial cushion defect. Nursing for Women’s Health 2015; 19: 413 – 421.

Freedom of Information request ‘Spend on research into Down’s syndrome and titles of studies funded since 2010′