Reproductive and prenatal testing
Placing genetics at the core of medical decisions
Reproductive genetic testing before medically assisted reproduction (MAR) is used to identify the genetic causes of female and male infertility, from germline pathogenic variants to chromosomal abnormalities. It addresses the principal reproductive-failure entities, including premature and primary ovarian insufficiency, where a large and growing set of validated genes is causative. Most commonly in men with azoospermia, alongside , , and . Some causes are chromosomal, such as Klinefelter syndrome and AZF microdeletions, while others are monogenic, following autosomal dominant, autosomal recessive or X-linked inheritance; more than 100 candidate genes are described per non-syndromic male-infertility entity, around 70 with at least moderate ClinGen evidence. Infertility affects about one in six couples, with a male-factor contribution in more than half. For , the endorses karyotype and FMR1 premutation testing. A precise molecular diagnosis secures the cause, defines recurrence risk and guides assisted reproductive management.
Preconception genetic testing
Adventia carrier screening is a genetic test which determines whether a phenotypically healthy person is a carrier of a genetic disorder. The genetic insight provided by Adventia can inform, guide, and empower people on their reproductive choices, and minimise the risk of people who are carriers transmitting a genetic disorder to their children.
Rodinia is a genetic test for infertility that screens for genetic variants (mutations) in individuals who have difficulty achieving pregnancy. Rodinia can guide towards the optimal clinical management plan for each couple or individual wishing to have a child by identifying disorders of sex chromosomes and genetic variants associated with infertility.
Prenatal and pregnancy genetic diagnostics
With non-invasive fetal Rhesus factor (RhD) determination, RhD negative pregnant women can have their blood tested to determine the RhD of their unborn child. Most people possess the RHD gene and are therefore RhD positive. About 17% of pregnant women are RhD negative.
Preimplantation genetic testing (PGT)
Amfira is a preimplantation genetic test (PGT) that can determine whether an embryo created through in vitro fertilization (IVF) is chromosomally normal (euploid). Choosing to implant a euploid embryo can increase the chances of achieving pregnancy and live birth, and potentially reduce the number of IVF cycles and time needed to achieve pregnancy.
Other analyses
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