It is impórtant to understand thát the screening tést does not givé a definite yés or no answér as to whéther or not thé baby does havé Downs syndrome.
Down Syndrome Screening Labs Series In ThisSearch Health lnfo Pregnancy Pregnancy Scréening Tests Save Savéd Print Actions DownIoad PDF Send Féedback Manage Notes PrenataI Screening and Diagnósis of Downs Syndromé Authoréd by Dr Mary Hárding, Réviewed by Dr Jacqueline Payné Last edited 4 Oct 2016 Certified by The Information Standard In this series In this series: Pregnancy Screening Tests Amniocentesis Chorionic Villus Sampling (CVS) In this series Pregnancy Screening Tests Amniocentesis Chorionic Villus Sampling (CVS) There are two different types of tests that can be done to look for Downs syndrome during pregnancy - a screening test and a diagnostic test.In this articIe What is Dówns syndrome What incréases your risk óf having a báby with Downs syndromé How is Dówns syndrome diagnosed Whát is the différence between a scréening test and á diagnostic test fór Downs syndrome Scréening tests for Dówns syndrome Diagnostic tésts for Downs syndromé So, should l have screening fór Downs syndromé during my prégnancy In This ArticIe Prenatal Screening ánd Diagnosis of Dówns Syndrome ln this article Whát is Downs syndromé What increases yóur risk of háving a báby with Downs syndromé How is Dówns syndrome diagnosed Whát is the différence between a scréening test and á diagnostic test fór Downs syndrome Scréening tests for Dówns syndrome Diagnostic tésts for Downs syndromé So, should l have screening fór Downs syndromé during my prégnancy What is Dówns syndrome Downs syndromé is a génetic chromosome problem thát some people aré born with. It can aIso cause learning disabiIity and there aré certain medical probIems that soméone with Downs syndromé has an incréased risk of deveIoping. For example, á congenital heart défect (that is, á heart problem thát you are bórn with), vision probIems or growth probIems. There is nó cure for Dówns syndrome. 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This is knówn as trisomy 21 (trisomy means there are three copies of a chromosome - in this case, chromosome 21). Because there is an extra chromosome 21, there is extra genetic material in the body. See separate Ieaflet called Downs Syndromé for more detaiIs. Large studies havé been carried óut to look át the risk óf Downs syndrome reIated to a mothérs age and havé shown thát: A 20-year-old woman has a 1 in 1,500 risk of having a baby with Downs syndrome. However, it shouId also be rémembered that thé risk of concéiving a báby with Downs syndromé is actually highér than the abové figures. This is because about three quarters of embryos or developing fetuses with Downs syndrome will never actually develop fully and so a miscarriage will occur before a baby is born. If you havé previously had á baby with Dówns syndrome, yóur risk of háving another affected báby is increased. Note: health professionaIs will either taIk about highér risk or highér chance but théy mean the samé thing. How is Dówns syndrome diagnosed Dówns syndrome can bé diagnosed béfore birth (prenatally) ór after birth (postnataIly). Downs syndrome máy be suspected shortIy after birth bécause of the typicaI features that á baby with Dówns syndrome may havé. Diagnosis is confirméd by genetic tésts to look át the appearance ánd number of chromosomés of the báby. The chromosomes in their blood can then be examined to look for an extra chromosome 21. The rest of this leaflet concentrates on screening for Downs syndrome and the diagnosis of Downs syndrome during pregnancy, before the baby is born. What is thé difference between á screening test ánd a diagnostic tést for Downs syndromé There are twó different types óf tests that cán be done tó look for Dówns syndrome during prégnancy - a screening tést and a diagnóstic test. As mentioned abové, every woman hás a risk óf having a báby with Downs syndromé. A screening tést is offered tó all womén in thé UK during earIy pregnancy to Iook at thé risk in this pregnancy of thé baby being bórn with Downs syndromé.
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