A couple with normal phenotype has deafness in both families. To reduce the risk of giving birth to deaf baby, the couple has been advised to receive carrier screening before pregnancy. They both carry a heterozygous variant of SLC26A4, c.225C>G (p.Leu75Leu) subsequently confirmed by Sanger sequencing. However, autosomal recessive non-syndromic sensorineural hearing loss typically results from homozygous variants of SLC26A4 gene. It means that this couple have 25% probability of giving birth to a deaf baby. The genetic counselor gave them advice to receive prenatal diagnosis or IVF treatment. After consideration, they gave consent to third-generation IVF treatment. Now they already have a healthy baby.
Preconception Expanded Carrier Screening
According to authoritative research reports, on average, each person carries 2.8 pathogenic mutations of recessive hereditary diseases. As there are many kinds of genetic diseases and most of them cannot be cured, many “healthy couples” may carry the same pathogenic mutations coincidentally. This will cause their offspring to have 1/4 of the risk of genetic disease, which cannot be detected by routine pre-pregnancy tests. Genetic disease carrier screening can discover the carrying status of disease-causing genes promptly. It can help you understand your health status and prevent birth defects, so as to achieve bear and rear better children.
Test and screen for gamete donor
Intermarriage Consanguineous marriage
Females in their early pregnancy (≤16w)
Couples coming from high incidence area of genetic disease
Couples who are preparing for pregnancy (groups caring for their own health)
18 common disease, 47 rare diseases, 43 ACMG recommended diseases
The coding sequence of all candidate gene target regions was 100% covered
CMD database based on Chinese population clinical mutation
Up to 200,000 yuan health insurance to protect patients interests
Average depth of target area≥300X, Accuracy≥99%, more reliable
Professional genetic counseling team, providing comprehensive services