Discover the genetic testing options that can help you have a healthy baby
Everyone wants to have a healthy baby, and there are plenty of genetic testing options to make it happen. There’s carrier screening available before you conceive. Once you undergo IVF, options like PGT-A and PGT-M allow our San Antonio fertility doctor to help you have the healthy baby you’ve always wanted.
Starting the process with carrier screening
The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) recommend that all hopeful parents undergo preconception carrier screening.
Carrier screening involves a simple blood or saliva test that delivers fast, reliable results with predictable pricing and genetic counseling support.
- Testing covers nearly 300 chromosomal conditions. These include cystic fibrosis, Tay-Sachs disease, fragile X syndrome, spinal muscular atrophy and sickle cell.
- Your doctor will receive your results 10-21 days after the genetics lab receives the sample.
If you’d like to get preconception carrier screening, our San Antonio fertility doctor can help you start the process.
Exploring the options for testing embryos
Preimplantation genetic testing, or PGT, can uncover inheritable genetic illness and chromosomal abnormalities in your embryos prior to transfer, increasing your chances of pregnancy success.
Our San Antonio fertility doctor will tell you that there are three main types of testing for embryos. These include PGT-A, PGT-M and PGT-SR.
Preimplantation genetic testing for aneuploidy (PGT-A)
PGT-A uses advanced next generation sequencing technology to analyze an embryo’s 23 pairs of chromosomes.
Embryos with the correct number of chromosomes (euploid) are most likely to result in a successful pregnancy. Embryos with an abnormal number of chromosomes (aneuploid) do not usually result in a healthy pregnancy or live birth. PGT-A allows your physician to choose chromosomally healthy embryos for transfer.
While PGT is valuable for anyone using IVF to conceive, it is especially beneficial for several groups of patients.
- Advanced maternal age (35 years or older)
- Previous IVF failure
- A previous child with a genetic condition
- A history of recurrent miscarriages
- Unexplained infertility
Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR)
PGT-SR examines chromosomes from each embryo to identify any chromosomal structural rearrangements. This is when pieces of chromosomes are missing, duplicated or misplaced. We typically find the following types of rearrangements.
Reciprocal translocations occur when pieces of genetic material switch places. If one parent carries this genetic abnormality, about 80% of his or her embryos will be affected by this type of translocation.
Inversions occur when part of a single chromosome is upside down. If a parent carries an inversion, his or her embryos may be also affected.
PGT-SR is recommended in certain situations.
- Patients who carry structural rearrangements.
- Women and men have an abnormal karyotype testing result.
- Patients have had a child with a chromosome rearrangement.
Preimplantation genetic testing for monogenic or single-gene defects (PGT-M)
State-of-the-art PGT-M testing can help parents who are at risk of passing on a genetic disease to their children. This form of genetic testing can test your embryos for virtually any specific single-gene condition.
Using blood from an affected relative, our partner reference lab will develop a genetic probe to be used to test the embryo’s DNA. The test uses karyomapping technology, which looks at the genetic fingerprint of embryo samples to deliver results that are more than 95% accurate.
You may need PGT-M if you or your partner are carriers of, or are affected by, a single-gene disorder or hereditary cancer syndrome.
- Cystic fibrosis
- Fragile X syndrome
- Huntington’s disease
- Breast or ovarian cancer (BRCA1 and 2)
To find out if genetic testing is right for you, contact us to schedule an appointment with our San Antonio fertility doctor.