The screening tests provide a risk score for the fetus having Down’s syndrome. A higher inhibin-A indicates a greater risk. It is identical to the triple test but also includes maternal blood for inhibin-A. The quadruple test is performed between 14 and 20 weeks gestation. It only involves maternal blood test results: The triple test is performed between 14 and 20 weeks gestation. Pregnancy‑associated plasma protein‑A ( PAPPA).A higher result indicates a greater risk. Beta‑human chorionic gonadotrophin ( beta-HCG).
Down’s syndrome is one cause of a nuchal thickness over 6mm. Ultrasound measures nuchal translucency, which is the thickness of the back of the neck of the fetus. It involves combining results from ultrasound and maternal blood tests. This test is performed between 11 and 14 weeks gestation. The combined test is the first line, most accurate and test of choice where possible. Older mothers have a greater risk of Down’s syndrome. The screening tests involve taking measurements from the fetus using ultrasound, combining those measurements with the mothers age and blood results and providing an indication of the risk of Downs syndrome. It is the choice of the woman whether to go ahead with screening. The purpose of the screening test is to decide which women should receive more invasive tests that would give a definitive diagnosis. Dementia is more common in adults with Down’sĪll women are offered screening for Down’s syndrome.Leukaemia is more common in children with Down’s.Cardiac defects affect 1 in 3, particularly ASD, VSD, patent ductus arteriosus and tetralogy of Fallot.
Visual problems such myopia, strabismus and cataracts.Eustachian tube abnormalities lead to glue ear and conductive hearing loss. The palpebral fissures are the gaps between the lower and upper eyelid.
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