Description
Natera Horizon Carrier Screen
A blood test for patient and partner to identify recessive mutations that could be inherited by a baby which could result in a significant medical condition that could have a major impact on the childs health and quality of life. Whilst some conditions like Cystic Fibrosis would be identified with the UK Newborn Screening Programme, most like Duchenne Muscular Dystrophy (DMD) , Fragile X and Spinal Muscular Atrophy (SMA) would not be detected by routine either routine pregnancy screening or the UK newborn screening programme. Click here to learn more about Understanding Carrier screening
Identifying a pregnancy with a baby at increased risk of these conditions allows parents to consider
- – whether or not to plan a pregnancy together
- – whether or not to consider an egg donor or sperm donor to avoid the risk of an affected baby
- – whether or not to consider IVF and prenatal genetic testing where only unaffected embryos could be implanted
- – whether or not to have a diagnostic test in pregnancy such as amniocentesis
- – whether or not to have a newborn test that might otherwise not be done and thus the diagnosis missed or delayed beyond the time that additional damage may have occurred.
Potential Outcomes
- – Both parents do not carry any pathological mutations – baby is unaffected
- – One parent carries a pathological mutation – baby is an unaffected carrier – only important if they have a baby
- – Both parents carry a pathological mutations – baby has a 1 in 4 (25%) of being affected offering the opportunity for diagnostic testing by amniocentesis during pregnancy or newborn testing which would otherwise not have been done. Diagnosis during pregnancy allows parents the option to continue the pregnancy or not and newborn testing allows early diagnosis when treatment may limit or prevent damage to the baby.
Our screening panels will look for mutations that could 4, 27, 274 or 613 recessive conditions.
Click to view Natera Horizon Video
