Preconception carrier screening
Our most extensive compatibility screening option. The panel investigates more than 3,000 hereditary disorders, providing substantially broader carrier screening for individuals and couples wanting the most comprehensive assessment available within this testing range.
What this panel covers.
Most people carry genetic variants associated with one or more recessive inherited disorders without ever developing the condition themselves.
This is known as being a healthy carrier.
Usually, being a carrier does not affect your own health. However, if both partners carry a disease-causing variant affecting the same autosomal recessive condition, each pregnancy generally has:
Genetic Compatibility Testing, sometimes called carrier screening, genetic matching or preconception carrier screening, examines whether prospective parents carry variants associated with the same inherited conditions.
Carrier screening can be considered by any couple planning a pregnancy, even when both partners are healthy and there is no known family history of genetic disease.
It may be particularly useful:
Ideally, carrier screening is performed before pregnancy, because this provides couples with more time to understand the results and discuss their reproductive options.
Finding that both partners carry variants associated with the same recessive disorder does not mean that you cannot have a healthy child.
Instead, the result provides information that can be used to understand reproductive risk and discuss available options with an appropriate genetics or fertility specialist.
Depending on the specific condition and circumstances, options may include:
The appropriate pathway depends on the particular gene, condition and inheritance pattern identified.
Genetic screening cannot eliminate all genetic or reproductive risk. A negative carrier screening result significantly reduces the likelihood of carrying the conditions investigated but does not exclude all genetic disorders. The clinical significance of genetic findings can vary, and some results may require interpretation by an appropriately qualified clinician or genetic counsellor. Genetic testing should be considered alongside medical history, family history and other fertility investigations.
Speak with the MDC team to arrange testing or discuss which genetic investigation may be most appropriate for you. Marylebone Diagnostic Centre, 73 Baker Street, Marylebone, London W1U 6RD.
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