The seventh section of the Provincial Court of Valencia has ratified the sentence of 700,000 euros to a laboratory for not detecting a serious genetic disease in a baby when a non-invasive prenatal study was performed on the mother.
In this way, the court rejects the appeal filed by the laboratory against the sentence handed down by a court in Valencia that condemned Laboratorio Echevarne S.A. for the damage caused to the family. Furthermore, in the new resolution, to which Europa Press has had access, the procedural costs are imposed.
The case revolves around the error in the prenatal test. The plaintiff, represented by lawyer Carmen Romero, became pregnant on October 13, 2014 with a girl and already had another son. The parents had a relative with Down syndrome and, faced with the risk of fathering a child with a genetic disease, they decided to rule him out and undergo a prenatal genetic study.
Thus, they went to the laboratory and were offered the possibility of performing a Non-Invasive Prenatal Blood Test that would allow them to rule out the main chromosomal alterations of the fetus and thus avoid the risks of an amniocentesis.
The parents booked the test, paid the 885 euros it cost, and had it done. According to the results obtained, as stated by the laboratory, in terms of microdeletions and in relation to cri-du-chat syndrome, the pregnant woman presented a low risk.
However, the plaintiffs' daughter was born in April 2015 with the syndrome, and although the disease went unnoticed during the first months of life, in July the family was informed that, given the appearance of a delay in evolutionary development, a symptom compatible with cri-du-chat syndrome had been detected in the baby.
A genetic study that was carried out confirmed that the minor suffered from the disease and that it contained a significant number of affected genes, specifically, 83. And it is understood that there is a syndrome when 22 genes are affected.
After that, as the plaintiffs alleged, they asked the laboratory for explanations and received no response, so a preliminary procedure procedure was initiated in order to obtain a full copy of the medical history of the mother who worked in the laboratory, so that Information will be given on the samples under study, the place and the conservation conditions.
Upon this request, the laboratory informed them that they were not the ones who carried out the prenatal study, but rather that they sent the sample to California, which they subsequently signed and delivered to the plaintiffs. Later, in the judicial procedure, the laboratory pointed out that it no longer kept the analyzed blood sample, so a new study could not be carried out on it.
As for the disease that the girl suffers from, also called Cat Meow Syndrome, it is characterized by mental retardation, cranio-facial anomalies and a deletion of the short arm of chromosome pair 5. It is characterized by a distinctive cry that resembles the cat's meow and causes severe intellectual disability. The greater the loss of genetic material, the greater, in quantity and severity, will be the number of alterations.
Currently there is no medical treatment to cure this genetic disease, as recalled in the lawsuit, so it is crucial for the girl to achieve a minimum of motor independence to carry out daily therapies aimed at combating her hypotonia.
The court, after evaluating all the evidence provided and performed, determined that in this case there had been an error in performing the test. Now, the Court has ratified this point by understanding that it is "evident" that "something went wrong."
"It is not normal to obtain a 'low risk' result with the high genetic involvement that the fetus presented, and it can also be stated that the risk, which was therefore high, should have been detected, but not only that, but it appears in the results sheet that the personal risk index was 1/57,000, three times below the general risk of 1/20,000 which is normal in the population, which shows that the risk detection error was even greater, inexplicable and therefore unacceptable, and of an enormous magnitude, because abnormal and disproportionate, in that the loss of the DNA of chromosome 5 was not detected and that it prevented the parents from knowing about the disease of the fetus during pregnancy, depriving them of their right to decide freely." .
Thus, he insists that the existence of the error is "indisputable", "the causes of which have not been justified or duly explained throughout the lawsuit, much less accredited, which could be found in a deterioration of the sample - when there are also indications of "that the time elapsed from its obtaining to the analysis could have been excessive since they were carried out in San Francisco (California) -, or due to the discrepancy between the DNA of the placenta and that of the fetus".
In any case, the court adds, it is "evident" that the test gave a false, wrong, and therefore erroneous result, and the two expert tests provided by the defendant laboratory "are limited to justifying the goodness and regularity of the test carried out by the defendant, and compliance with the protocol, and to handle possible hypotheses about the cause of the error, without the evidence allowing one to opt for one of them beyond mere conjectures".
