I would like to tell a story. I hope moderators publish it even though it’s crude and not really suited to the website, but perhaps it can be an additional element for considerations about prenatal and prenuptial genetical diagnosis.
I saw a well-known specialist, and let me remark, an atheist and a nonjew. I did not go to him to waste his time, nor did I ask out of hypocondrya: we had reasons.
First of all, kol hakavod, he was extremely honest, bordering on brutal, and told me that the one and only solution which medical science makes available in our days, is abortion. The pre-pregnancy tests are unreliable: actually, over 80% of pregnancies (not zygotes, but pregnancies, ie the embryo implants) in supposedly healthy couples are nonviable and most women don’t even realize about them. Viceversa there are couples where genetic testing shows problems, but do have healthy children, and we have no clue because we do not fully understand gene expression, much less do we understand the interaction with immune system and other biochemical chains. Usually the implant of nonviable embryos, such as the trisomies which are not compatible with life (not Down, but those with life expectations of a few months) either does not happen or it fails shortly afterwards, which is the reason most pregnancies (among those pregnancies we notice, that is) appear to be healthy. Or, simply, these couples have bad genetic tests but might keep generating healthy zygotes that divide and implant normally and grow to term into beautiful and healthy children and adults and have a long healthy life. Genetic science has gone a long way from the “dogma” that a gene codifies a single protein and expresses a single phenotype trait.
That said, he added that he does his best with diagnosing couples who find it morally acceptable to abort a foetus with severe problems, which does not mean committing to do – some change their mind and this must be respected, but if one has no intention of aborting to begin with, then it is pointless to do medical procedures which are potentially harmful to the woman and the foetus and are a cost for the taxpayer and a waste of time for medical professionals who have many patients and little time.
Having clarified that, he pointed out all he could guarantee is his effort to provide state-of-the-art medical insight according to which the patient must decide whether or not to terminate pregnancy. It is well-known that many “therapeutically aborted” foetuses turn out to be physiologically fine at autoptic exam, which adds to the tragedy of a couple who aborted a beloved and desired foetus. In addition, he told me about a couple who went to great length and expenses to have a genetically healthy baby, after various tragedies. I will not detail the medical history to protect the privacy of a fellow patient, I will only say the family, who was determined to terminate the pregnancy if there were serious problems, did all available exams, not only genetical but also functional. The baby however only survived for a few months of (very difficult) life: was genetically healthy but had a congenital defect which was not possible to diagnose in utero. There was no fault and no medical error by the doctors who did 3rd level ecography, blood flux and whatever other tests: only with extrauterine circulation and respiration was it possible to diagnose the problem. The doctor said, this is how things are, think about it, talk about it, and if you need, I am here.
I thanked him a lot and chose basic prenatal care, declining further testing.