The importance of gamete donor genetic screening

Two Couples Sue After Children Are Born with Genetic Abnormality Traced Back to Donated Eggs 

A few days ago Time Health reported the case of two couples suing their doctor and fertility clinic in New York after giving birth to two children with a genetic abnormality from donated eggs.

Two-year-old children have Fragile-X syndrome, a genetic condition that can lead to intellectual and developmental disorders. The parents argue that the doctor and clinic did not screen the women who donated the eggs to determine if they were carriers of Fragile-X. In addition, according to court documents, egg donors were examined after childbirth and confirmed to be carriers of the Fragile-X mutation.

Fragile-X is the most common intellectual inherited syndrome. For families with a history of this syndrome, prenatal diagnosis may improve the quality of life for descendants. More special attention should be paid to women carriers of premutation, bearing in mind that the expected prevalence in cases of carriers is: 1 in 800 males and 1 in 260 females.

Nowadays, the technique usually used by assisted reproduction clinics, especially in the case of gamete donors, is pre-implantation diagnosis. In other words, IVF embryos are genetically analyzed before implantation, in order to select and transfer embryos in the uterus that are not affected by mutation of the gene.

As for the preconceptional diagnosis, in order to avoid cases such as these, it is critical for fertility clinics to screen  donors in the most comprehensive way. Bioarray offers the following panel for donor screening:

  • Sequencing by NGS of 298 genes to detect recessive diseases such as Cystic Fibrosis, Alpha Thalassemia...
  • Triplet expansion analysis for Fragile-X (not detectable by sequencing)
  • Analysis of SMN1 deletion for spinal muscular atrophy

Fragile-X is a pathology that has no cure. It is possible to handle some symptoms with educational, behavioural or physical therapy and medications. Getting early treatment for Fragile-X may be helpful. However, prevention is always better than cure, hence the importance of testing donors to detect their status as healthy carriers of genetic alterations.

Read more >> Here

More info. Carrier Screening Panel  >> Here