Genetic Shield: Donor Screening

While home insemination bypasses the clinical setting, the laws of heredity remain unchanged. The cervical canal filters out weak-motile cells but cannot detect genetic mutations. Laboratory genetic donor screening is key to ensuring the health of the future child.

2.1. Mandatory Genetic Screening (Carrier Screening)

Hidden carrier status for autosomal recessive diseases—inherited conditions that can pass without showing signs in the carrier—does not manifest in the donor himself. However, if the biological mother is also a carrier of the same mutation, there is a 25% risk of the child being born with severe pathology.

Gene / Disease	Carrier Frequency	What Is Tested
CFTR (Cystic Fibrosis)	1:25 Europeans	Panel of 40+ mutations
SMN1 (SMA)	1:40–50	Exon 7/8 deletions
HBB (Sickle Cell Anemia / Thalassemia)	High in African, Mediterranean, Asian descent	HBB mutations
GJB2 (Hereditary Deafness)	1:35 (Europe)	c.35delG and others
HEXA (Tay–Sachs Disease)	1:25 Ashkenazi Jews	HEXA mutation panel

Use the interactive Mendel calculator on MAPASGEN to calculate transmission probability: mapasgen.com/genetics

2.2. Interpreting Results: What to Do When Carrier Status Is Found

If the donor is a recessive carrier (1 mutation, 1 normal): risk is low. It is recommended to screen the mother for the same gene. If the mother is normal, the risk of a sick child is near zero.

If the donor is homozygous or data are unavailable: genetic counseling is advised. It may be necessary to select a different donor or conduct additional maternal testing.

Incompatible profiles (both carriers of the same recessive disease): 25% risk. Preimplantation genetic diagnosis (PGD) with IVF or selection of a different donor is recommended.

2.3. Karyotyping and Infectious Status

Donor karyotype (chromosomal analysis): Excludes balanced translocations and inversions that may lead to miscarriage or birth of children with chromosomal imbalances.

Infectious profile (comprehensive testing):

HIV 1/2, Hepatitis B and C, Syphilis (RPR)

Chlamydia, Mycoplasma

It is important to observe the "window period": testing should be conducted no more than 3–6 months before use, or donor retesting should be performed before insemination.