Kuwait – MENA Herald: Great Ormond Street Hospital (GOSH), one of the top five children’s hospitals in the world, has developed Non-Invasive Prenatal Diagnosis (NIPD) for pregnant women – a safe alternative to the traditional invasive prenatal test.
The new test available at GOSH requires only a blood sample from the mother. GOSH is the only centre worldwide offering this unique, accredited service.
How does NIPD work?
When a woman is pregnant, there is a small amount of her baby’s DNA circulating in her bloodstream. This is called cell free fetal DNA (cffDNA) and by testing a maternal blood sample, GOSH can analyse the baby’s DNA. This provides a safe alternative to traditional invasive tests.
Testing may be offered for the following reasons:
There is a clinical indication in the baby, for example an abnormality seen on an ultrasound scan
There is a high risk of a genetic condition in the baby, usually because the couple already have an affected child and there is a high risk to any future pregnancy
Commenting on this unprecedented step, Lucy Jenkins the Interim Director of the North East Thames Regional Genetics Laboratory based at Great Ormond Street Hospital and Consultant Clinical Scientist for Molecular Genetics said: “The real focus of the non-invasive prenatal diagnostic test is about giving people the option to safely find out if their baby has a genetic disease, which is what our test offers. GOSHome allows patients to avoid the diagnostic odyssey, where patients with rare conditions affecting multi-organ systems may have to wait years before their condition is finally diagnosed. GOSHome allows us to tailor the test to a panel of genes allowing for a timey result that will not reveal information that is not expected or consented.”
Conditions GOSH can test for:
Fetal sexing (this is only available where the pregnancy is at risk of a sex-linked disorder)
Cystic Fibrosis Paternal Mutation Exclusion
FGFR3-related skeletal dysplasias
FGFR2-related Craniosynostosis including Apert syndrome
The GOSHome test
The GOSHome is a post-natal diagnostic test available at GOSH for children and adults who have an unknown condition, and is designed to help confirm a genetic diagnosis. The test targets around 5000 known disease-causing genes.
The test covers rare conditions that are known to be caused by multiple genes, for which it is difficult to make a definitive diagnosis.
GOSH is the only institute worldwide to offer this test with a paediatric focus designed for specific clinical areas.
How does the GOSHome work?
Experts at GOSH analyse a subset of the 5000 genes that are relevant to a patient’s clinical presentation in a ‘virtual’ panel. The GOSHome test:
Ensures a timely and meaningful clinical report
Provides data to analyse further genes if indicated
Avoids incidental findings such as late onset predisposition genes
A flexible design approach means GOSH experts can add or remove genes from panels as new scientific discoveries are made
Once the sample is received at GOSH in London, test results are be available in the following times:
NIPD testing: five working days
Bespoke NIPD testing: eight weeks
GOSHome testing: approximately four months