Identify & Prevent Hereditary Disease
Hereditary diseases are genetic disorders passed from parents to their children. There are several types of genetic disorders, differing in their modes of inheritance. Based on individual needs, a genetic counselor may recommend that screening be completed in order to identify if you are a carrier of a hereditary disease. If a genetic mutation is found, Pre-Implantation Genetic Diagnosis (PGD) during an IVF cycle is utilized in order to avoid passing on the hereditary disease or medical protocols may be altered during treatment in order to optimize the outcome. With over 60 years of collective experience and locations in Bloomfield Hills, Ann Arbor, Dearborn, Saginaw and Toledo, OH, the physicians of IVF Michigan Fertility Center are available to help couples throughout the Midwest and abroad.
Screening for Hereditary Diseases at IVF Michigan Fertility Center
Based on individual needs, a genetic counselor may recommend that screening be completed in order to identify if you are a carrier of a hereditary disease. If a genetic mutation is found, Pre-Implantation Genetic Diagnosis (PGD) during an IVF cycle is utilized in order to avoid passing on the hereditary disease or medical protocols may be altered during treatment in order to optimize the outcome.
Identifying Hereditary Disease: Most carriers of mutations of the disease have no symptoms and are not affected. However, if you and your partner are carriers for the same mutation, your child is at a significantly higher risk of being affected with that disease. IVF Michigan Fertility Center offers the Counsyl Universal Genetic Test, a genetic test that screens parents for being carriers of genetic diseases. Counsyl screens for cystic fibrosis, spinal muscular atrophy (SMA), Tay-Sachs disease, sickle cell disease and more than 100 other single gene disorders with a single test. If we find that you are carriers, Pre-Implantation Genetic Diagnosis (PGD) completed during an IVF cycle is used in order to ensure that your children will not be affected by the genetic disease.
Mutation Screening is a tool for couples to identify if they are carriers of a heredity disease. Mutation Screening by Sanger Sequencing is most often recommended when the genetic disease has previously been identified or there is a known family history for a particular genetic disease. Mutation Screening is used to detect genetic diseases caused by a few number of mutations or for detecting mutations in small genes. Once our Genetics Laboratory has analyzed your results, we will be able to tell you if you are and your spouse are carriers of that particular genetic disease. If we find that you are carriers, Pre-Implantation Genetic Diagnosis (PGD) completed during an IVF cycle is used in order to ensure that your children will not be affected by the genetic disease.
Modes of Inheritance
Genetic diseases vary in the modes of inheritance. For some conditions, both parents must be carriers in order to pass the genetic disease on to their offspring. For other conditions, if one parent is carrying the genetic disease than the children are at risk of being affected by the disease.
- Autosomal Recessive Disorders: Two copies of the abnormal gene must be present in order for the disease or trait to develop. In cases where both parents are non-affected carriers (heterozygous) of the condition, the chance of having a healthy non-carrier baby through natural conception is 25%, the same as the chance of having a homozygous affected child. There is a 50% chance of having a heterozygous unaffected child (non-affected carrier, like the parents).
- Autosomal Dominant Disorders: Autosomal Dominant disorders are less common than Autosomal Recessive disorders. In order to inherit an Autosomal Dominant Disorder, only one copy of the abnormal gene must be present. In cases where one of the parents is an affected carrier, through natural conception, 50% of children will be affected and the other 50% will be unaffected non-carriers.
- X-Linked Disorders: X-Linked disorders are always initially passed from a carrier mother (normal or mildly affected) to offspring. Male offspring (XY) who have the maternal chromosomal carrying the mutation are severely affected. Comparatively, female offspring (XX) carrying one normal X (father) and the mother’s X-chromosome with mutation are much less affected. 50% of male babies will be affected and 50% of the female babies will be carriers. The daughters of men who are affected with X-linked disease are called “obligate carriers” since one of their two X chromosomes is always coming from their affected father.
To discuss your medical history with a physician and learn which test or service is best suited for you, book an appointment with IVF Michigan Fertility Center today.