To screen or not to screen?

Nothing quite prepares you for the overwhelming rush of all-encompassing emotion when your first born child is handed to you. No matter how many members of your family, close friends, not so close friends, work colleagues, passing acquaintances & complete strangers you talk to and no matter how much advice you are given (solicited and otherwise), no words can ever adequately describe the intensity of the moment. Those of you who are familiar with my, at best, tenuous grasp of my emotions (please refer to previous life milestone entitled ‘The Wedding’) will be under no illusions as to my immediate reaction. Tears. And lots of ‘em.

The moment itself came at 9.11pm on Thursday December 22nd 2011, when Harry Robert Nixon was born at Wythenshawe Hospital after an eighteen hour labour. Harry decided to announce his imminent arrival by trying proving that his bowels were in fine fettle and that we had kept him waiting quite long enough for his first trip to the toilet thank you very much. Not only would this lead to further complications in the form of an infection but he was an interesting colour when he was pulled (literally) into this world. The insertion of forceps is not an image that shall leave me any time soon.

As is routine now, we were offered screening for DS during Livvi’s pregnancy but we declined it. Not only would it have made no difference to our decision to continue with the pregnancy, but the Nuchal Translucency Scan can only ever give you a percentage chance. This would surely just give us something else to worry over for the remainder of the pregnancy wouldn’t it? Anyway, Livvi was considered such low risk for giving birth to a baby with DS that we never really gave it a second thought. Of course there were moments when we wondered ‘what if?’ but to be honest we dismissed these thoughts out of hand. Speaking for myself, I know that I got so carried away on the rush of euphoria that impending first-time fatherhood brings, that the 12 and 20 week scans came and went with a blur (that was probably the tears…).

It is only looking back now that I realise that I was merely a wide eyed passenger in those darkened rooms, more interested in the geek-fest of technology involved in the scan than what it was, or more to the point wasn’t, showing. Having decided against any screening and considered low risk, Livvi and I never thought to question the radiographer when she showed us Harry’s heart fluttering away. Apparently there is no specific instruction for the radiographers to check for any cardiac structure deficits at the 20 week scan stage; in fact, as long as there are 4 chambers and they are all pumping then it is deemed satisfactory. Harry’s congenital heart defect (CHD) meant that the middle of his heart was missing, the septum having not formed properly in utero, which also gave no foundation for the anchoring of the bi- & tri-cuspid valves separating the atria & ventricles (this defect is known as AVSD “atrio-ventricular septal defect”).

Screening itself would not have illustrated the CHD but it would have highlighted the increased chance of Harry having DS which in turn would have, in all probability, led to more detailed scans of Harry’s heart due to the increased risk of children with DS developing CHD.

All of which brings into stark relief the question posed at the beginning – To screen or not to screen?

My wife Livvi has written a blog piece about this very subject which highlights the need for understanding what the screening is for. In an age when it seems to be more and more common for the screening to be a more socially acceptable form of genetic cleansing (however polished the arguments may be), it is imperative that the screening must be undertaken with the best interests of the baby at heart (no pun intended).

Livvi & I would not swap our little bundle of joy for anything in the world, DS or no DS, and the ONLY reason in hindsight that we would have had screening is to protect Harry from the extra strain placed on his heart by the stress of a natural labour and indeed the extra complications of having to fight off the infection which could so easily have been avoided if we had known about the AVSD in the first place.

The sooner that all parents understand that screening can be less about any chromosomal issues and more about any associated general health issues the better.