If the chromosomal abnormality had been detected during prenatal testing, the parents would have chosen not to carry the pregnancy to term.  Photo: Getty Images

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If the chromosome abnormality had been detected during prenatal testing, the parents would have chosen not to carry the pregnancy to term. Photo: Getty Images

Parents of a child with a severely incapacitating genetic disease claim nearly $ 10 million from the CHU de Québec-Université Laval and a geneticist for failing to detect their daughter’s chromosomal abnormality during screening prenatal.

Manon (not her real name) has a genetic syndrome of tetrasomy of the 15q11 gene, associated with autism spectrum disorder, severe motor dyspraxia, and attention deficit hyperactivity disorder.

There are many manifestations of the disease in children: coordination problems, cognitive difficulties, delayed language and growth, poor concentration, few social skills, etc.

These attacks make her “completely dependent on others” and require constant support and accompaniment, we can read in the originating application that her parents filed with the Superior Court on January 13.

The parents are represented by Me Joelle Dubois, from the firm Tremblay Bois.

As Manon’s mother was over 35 when she became pregnant, her pregnancy was closely monitored. The woman notably agreed to undergo an amniocentesis to ensure that her fetus did not present any serious genetic abnormalities.

If such an abnormality had been detected, the couple would have chosen not to carry the pregnancy to term.

Following amniocentesis, two karyotypes were established to analyze the structure of the chromosomes of the fetus.

According to the applicants, the assembly of the karyotypes should have made it possible to detect the presence of a normal chromosome 15 and an abnormal chromosome 15 comprising 3 copies of the SNRPN gene.

“Clearly abnormal”

They blame the employees who performed the assembly of the karyotypes and the geneticist who validated them, Dr. Jean Gékas, for not having detected the problem, even though chromosome 15 was “clearly abnormal”.

Convinced that their unborn child had no genetic abnormalities, the couple carried the pregnancy to term. It was only several months after Manon’s birth that her parents learned that she had a tetrasomy involving chromosome 15, terrible news greeted with amazement and incomprehension.

Manon’s medical condition turned the life of the small family upside down. Both mother and father developed a variety of health problems, including anxiety, loss of energy, palpitations, and physical pain.

Added to this are the impacts on their respective professional activities and the expenses related to drugs, rehabilitation treatments and other special care that their daughter requires.

In addition to having consequences on their health and their finances, the situation led to estrangement in the couple.

Pursuit

For nearly 10 years, Manon’s parents were convinced that the chromosomal abnormality was not visible on amniocentesis done at 17 weeks of pregnancy.

This is following a meeting with Dr Regen Drouin, a geneticist, whom they began to suspect that a medical malpractice had been committed. The steps taken to verify their doubts led to the initiation of legal proceedings.

Parents believe that their problems stem from the faults they blame on Dr. Gékas, technologists and laboratory staff at the CHU de Québec-Université Laval.

If the anomaly had been detected, Dr. Gékas would have requested additional examinations and analyzes which would have made it possible to establish the diagnosis of tetrasomy of the 15q11 gene at the prenatal stage.

Avoidable damage

The parents would then have chosen to terminate the pregnancy voluntarily. Manon “would never have come into the world and the damage would have been avoided”, we can read in the originating demand.

The mother and father are claiming $ 1.6 million and $ 1.1 million, respectively, for moral and material damages associated with their daughter’s medical condition, including the costs required to raise her and meet her special needs until 18 years.

They are also claiming, in their capacity as guardians of their daughter as of her majority, an amount of 6.63 million dollars, most of which (5 million) must be used to pay for the care and equipment she will need.

The sum of the amounts claimed is $ 9.4 million.

Contacted by Radio-Canada, Manon’s parents and the CHU de Québec-Université Laval indicated that they did not wish to comment on the matter at this stage.