EGG DONOR SCREENING

Egg donor screening is a test for couples who want pregnancy with the help from an egg donor in relation to IVF. The test is used to investigate genetic mutations passed from an egg donor to the children and cause hereditary disease. 

HEREDITARY DISEASES

Hereditary diseases are inherited through genetic material from one generation to another. There are different types of hereditary diseases. In this analysis, we focus on two types:
 

1. RECESSIVE GENETIC DISEASE

Two copies of the same mutated gene, one in the woman and one in the man, cause the disease.

2. X-LINKED RECESSIVE HEREDITARY DISEASE

In boys: One copy of the mutated gene is sufficient to cause the disease.

In girls: Two copies of the mutated gene are needed to cause the disease, but it is more likely the woman inherits only one copy of the mutated gene and will be a healthy carrier.

GENES ANALYZED AND THE PREVALENCE OF THE RELATED DISEASES:

Related diseases: Spinal muscular atrophy. Genes: SMN1.
Statistics: 1 in 6000-10000 children are born with the disease. In the United Kingdom, approx. 2000-2500 children and adults with SMA.

Related diseases: Cystic fibrosis. Genes: CFTR.
Statistic: Approx. 1 in 30 people is a healthy carrier of cystic fibrosis without knowing it. In Denmark, 1-2 children are born with cystic fibrosis every month.
This represents approx. 150000 people in Denmark.

Related diseases: Non-syndromic genetic deafness. Genes: GJB2, GJB6 (DFNB1)
Statistic: 60-80% of cases of early-onset hearing loss are of genetic origin. Between 1 in 1000 were born with profound and 1 in 700 with severe hearing loss.

Related diseases: Tay- Sachs. Genes: HEXA.
Statistics: The prevalence of the diseases is 1 case per 320000 live births. 100 times more common among Ashkenazi Jews, with the number of carriers being around 1 per 30.
Reference: https://www.orpha.net/consor/cgi-bin/index.php?lng=EN