A woman naturally conceived and gave birth to a baby boy three years ago. The whole family was immersed in the joy of the arrival of a new life, but unfortunately received a notice from the hospital about the abnormal results of the hearing test. Modern science and technology can carry out early hearing detection and diagnosis for newborns and infants. If scientific intervention and rehabilitation training can be carried out for infants with permanent hearing loss within 6 months of birth, the majority of them can return to the society. Following the doctor's advice, the couple first carried out deafness gene testing, which captured gene mutations related to genetic deafness through high-throughput sequencing to find the patient's pathogenic genes, so as to give targeted fertility guidance and treatment suggestions. According to the deafness gene testing, the baby carried pathogenic GJB2 c.235delC homozygous mutation. Then the couple was also tested and the results showed they also carried heterozygous mutations at this locus. The doctor told the couple that there was still a risk of 25% of giving birth to deaf children again so PGT was recommended to avoid the birth of children with disease. Following the doctor’s advice, the couple adopted IVF and chose an embryo without pathogenicity variation for implantation through PGT-M and finally gave birth to a healthy baby girl.
How does the Basecare PGT-M process works?
Basecare provides access to state-of-the-art PGT-M genetic services that give parents the best chance of a successful pregnancy. PGT-M can test for almost any single-gene condition with an identified mutation, when the appropriate family members are available for genetic testing to help with the test-development process. The primary benefits of PGT-M are to substantially decrease the chance of having a child with an inherited genetic disorder by analyzing embryos before transfer.
Who benefits form PGT-M?
Those diagnosed with monogenic genetic disorders (hemophilia, phenylketonuria, thalassemia, etc.
Serious diseases with genetic susceptibility (BRCA1/BRCA2, etc.)
Human leukocyte antigen (HLA) matching (thalassemia, leukemia and other hematologic disorders matching)
No pre-experiment, no customized RNA, simplified process
Patented exclusive technology can detect 1000 kind of monogenic disease
Haploid linkage analysis techniques were adopted to reduce the effect of allele tripping(ADO)
Extra verification for variation sites to secure the reliability of detection
Use AI to assist in risk assessment and improve analysis accuracy
Monogenic disease, chromosome number and structure abnormalities can be analyzed simultaneously