This measures free beta-hCG, alpha fetoprotein (AFP), inhibin-A and unconjugated estriol (uE3) (see Serum markers for Downs syndrome, below).
Down Syndrome Screening Risk Calculation Software Download PDF SendSearch Professional Articles Investigations (Bedside and Laboratory Tests and Imaging) Save Saved Print Actions Download PDF Send Feedback Manage Notes Prenatal Screening for Downs Syndrome Authored by Dr Colin Tidy, Reviewed by Dr Adrian Bonsall Last edited 4 Oct 2016 Certified by The Information Standard This article is for Medical Professionals Professional Reference articles are designed for health professionals to use.
They are written by UK doctors and based on research evidence, UK and European Guidelines. You may find the Downs Syndrome article more useful, or one of our other health articles. In this article Pre-screening discussion Pre-screening probability Downs syndrome screening Screening methods The evidence base for the screening tests Screening for Downs syndrome in multiple pregnancy The future In This Article Prenatal Screening for Downs Syndrome In this article Pre-screening discussion Pre-screening probability Downs syndrome screening Screening methods The evidence base for the screening tests Screening for Downs syndrome in multiple pregnancy The future It is important to emphasise that the decision to have any form of screening should be an informed one. Some people may decide against having diagnostic testing or even screening for Downs syndrome when offered the choice. It is important that appropriate information, counselling and support accompanies testing and screening. Down Syndrome Screening Risk Calculation Software Skin Tags 23Trending Articles COVID-19: how to treat coronavirus at home 1 Coronavirus: how quickly do COVID-19 symptoms develop and how long do they last 2 Coronavirus: what are asymptomatic and mild COVID-19 3 What your vaginal odour could mean 4 Quiz: Am I depressed 5 Quiz: Am I pregnant 6 What causes vaginal odour after sex 7 The best way to treat a herpes outbreak 8 Gallstones diet sheet 9 Whats causing your pelvic pain 10 COVID-19: how to tell hay fever and coronavirus apart 11 Coronavirus: what are moderate, severe and critical COVID-19 12 What could be causing your pins and needles 13 Quiz: Do I have diabetes 14 Can women take Viagra 15 Why you constantly need to pee 16 Quiz: When will I get my first period 17 Quiz: Do I have OCD 18 Are any coronavirus home remedies safe or effective 19 How to treat constipation and hard-to-pass stools 20 When to worry about night sweats 21 Will a UTI go away on its own 22 When should you worry about skin tags 23 When should you worry about neck pain 24 Is it safe to delay your period for your holiday 25 What causes head pressure and brain fog 26 What causes a musty smell in the nose 27 When to worry about spots on the penis 28 IBS diet sheet 29 Can you prevent breakthrough bleeding on the pill 30 Pre-screening discussion Women should be given information regarding Downs syndrome screening at their first appointment with a healthcare professional. This should include: Balanced and accurate information about Downs syndrome. The screening pathway and next steps for screen-positive and screen-negative results, including information about the decisions that need to be made at each step and their consequences. Information about amniocentesis and chorionic villus sampling. Pre-screening probability The risk of Downs syndrome varies with maternal age 1: 1:1,500 at 20 years. Following trisomy due to a translocation, the recurrence risk is dependent on the type of translocation and which partner carries the translocation. Downs syndrome screening All women, regardless of age, are offered screening for Downs syndrome. There is at present some variation in the type and timing of the screening tests used in England, Northern Ireland, Scotland and Wales 3, 4, 5, 6. The aim of this screening programme is to identify those women at a higher risk of having a baby with Downs syndrome and to offer them diagnostic testing using either chorionic villus sampling (if less than 13 weeks of gestation) or amniocentesis (if beyond 15 weeks of gestation). These procedures carry a risk of miscarriage (0.5-1 excess miscarriage risk for amniocentesis; 1-2 for chorionic villus sampling). Women found to be carrying a baby with Downs syndrome will be offered expert counselling and support, they may be offered a termination of pregnancy or they may choose to continue with the affected pregnancy with support. The challenge of a prenatal screening programme is to identify women in whom a risk of Downs syndrome is sufficiently high to justify such an invasive test and to minimise the risk of miscarrying a healthy baby. Screening methods There are two methods of screening for Downs syndrome: serum screening and ultrasound screening (nuchal translucency). These can be used in combination (the combined test) 7: The blood sample can be taken from the mother between 10 weeks and 14 weeks 1 day of pregnancy. The ultrasound scan can be carried out between 11 weeks 2 days and 14 weeks 1 day of pregnancy. The serum screen measures free beta human chorionic gonadotrophin (beta-hCG) and pregnancy-associated plasma protein A (PAPP-A) (see Serum markers for Downs syndrome, below). If a woman books later in pregnancy (when nuchal translucency is not as accurate, or if it is not technically possible to measure it) the quadruple test can be taken between 14 2 to 20 0 weeks of gestation.
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