Genetics has become an important part of mainstream healthcare with genetic counsellors a central touch point to help educate, support and guide patients through their options and choices.
Genetic counselling plays an important role in fertility care and you may be recommended to speak with a genetic counsellor so that you have all the information you need for your fertility journey.
The following are examples of where meeting with a genetic counsellor may be helpful.
- You are planning IVF – and interested to learn more about genetic testing options for you and your embryos.
- You have embryos that have been genetically tested and want to understand more about the results of embryos that do not have a normal test result.
- You are using an egg or sperm donor – and have questions about your donor’s genetic test results or family history, and whether any genetic testing would be available or recommended for you.
- You have a history of recurrent miscarriages – and wish to discuss if genetic tests can find out why.
- You are a carrier of chromosome condition – such as a translocation or inversion or micro duplication and want to understand how this is inherited and if embryos can be tested.
- You have a genetic condition – and would like to understand more about the risk for your children, or discuss embryo testing for the condition.
- You have or are a carrier of a genetic condition – for example, cystic fibrosis, spinal muscular atrophy, Fragile X syndrome, beta thalassemia & sickle cell anaemia any other rarer condition and would like discuss how to reduce the risk for your children.
- You have a diagnosis of a sex chromosome abnormality – that is associated with fertility challenges, such as Klinefelter syndrome (XXY), XYY syndrome, or X0 Turner syndrome
- You have a very low or zero sperm count – and would like to understand your genetic test results
- Your have male infertility with a known genetic cause (Y chromosome deletion result or congenital absence of the vas deferens) – and would like to understand more and the implications for your fertility and treatment options.
- You are genetically related to your reproductive partner – and wish to discuss if this may affect the health of your future children
- Your have been told your donor has been found to have or carry a genetic condition – you would like to understand more about this and the implications for your donor conceived child or your frozen embryos or planned treatment.
- You have concerns about a personal or family health history – and would like to discuss the further the implications for your own health and that of your children – these include
- a potentially inherited disease
- birth defects, delayed and/or neuro-diverse development in children
- infertility, miscarriages, medical terminations and still births
- Adult onset conditions for example, cancers, heart, kidney, muscular, neurological and psychological conditions,
You are considering parenting but concerned about your age – (>35yo for women and >45yo for men) and want to discuss age-related risks to your offspring before you conceive
Genetic counselling can help you understand your genetic risks and genetic testing options working in collaboration with your IVF centre to help identify and understand genetics as part of your personalised fertility pathway.
Author: Karen Sage MSc GC (Med)
Founder Partner Fertility Genetics
Genetic Counsellor & PGT Consultant
www.fertility-genetics.co.uk
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