Many genetic disorders are results from gene changes that are present in essentially every cell in the body. As a result, these disorders often affect many body systems and most cannot be cured however, approaches may be available to treat or manage some of the associated signs and symptoms if, for example, your child or another family member have been diagnosed with a chromosomal or genetic condition or if you know that a condition runs in your family, it may be helpful to speak to a genetic counselor. Genetic counselors are health professionals qualified in consulate and genetics as well as providing emotional support that they help you to understand the condition and what causes it, how inherited and what a diagnosis means for you, your child’s health and development and for your family. It is important that you need the counsellor and are free to provide information individualized according to the patient and support that is sensitive to your family circumstances, culture or beliefs.
If you’re talking about inherited fertility conditions, there are numerous assisted conception methods, IVF, direct sperm injection, ICSI, donor egg, donor sperm. But suppose you’re talking about inherited mutations that cause serious disease in the newly born child. In that case, carrier screening of the parents, pre-implantation diagnosis, non-invasive prenatal testing where pregnant mother’s blood is taken. 15% of the mother’s DNA in her bloodstream is from the fetus.
You can actually detect DNA changes in the fetus without amniocentesis, a painful needle into the amnio, or biopsy, a vaginal screen. About 1 in 30 people of Northwest European descent are carriers of serious cystic fibrosis, recessive mutation on chromosome seven. At-risk couples can be screened before pregnancy or in an early stage pregnancy. If both are found to be carriers before they start the conception route, they could go down the IVF route and pre-implantation diagnosis, where several embryos are made, sperm is mixed with the ovum, and several embryos are made. The embryologist can take just a single cell from a bowl of eight or 16 cells out of there, which doesn’t affect the embryo. It will develop normally; the DNA can be extracted from that single cell. You can analyze that to see if there are two bad copies of cystic fibrosis in each particular embryo. On average, half will only have one bad copy, one quarter will have no bad copies, and one quarter will have two bad copies. Obviously, you only implant the one with either no copies or just one bad copy.
Then you’re guaranteed that the child will not have cystic fibrosis; that’s pre-implantation diagnosis. Alternatively, you can carry out non-invasive prenatal testing with the woman’s blood. You can look at the fetal DNA or chorionic villus biopsy or amniocentesis. If the child is affected, then the couple has got the option of an abortion.
