Prenatal Screening Markers for Down Syndrome: Sensitivity, Specificity, Positive and Negative Expected Value Method
| Autor: | Milica Durković, Milan Ubavić, Jasmina Durković, Tibor Kis |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Down syndrome
specificity 030204 cardiovascular system & hematology Expected value Human chorionic gonadotropin lcsh:Biochemistry Andrology 03 medical and health sciences prenatalni skrining 0302 clinical medicine medicine lcsh:QD415-436 Pathological Original Paper Fetus Pregnancy 030219 obstetrics & reproductive medicine specifičnost business.industry sensitivity medicine.disease 3. Good health senzitivnost Prenatal screening prenatal screening Daunov sindrom business Trisomy |
| Zdroj: | Journal of Medical Biochemistry, Vol 37, Iss 1, Pp 62-66 (2018) Journal of Medical Biochemistry |
| ISSN: | 1452-8266 |
| DOI: | 10.1515/jomb-2017-0022 |
| Popis: | Genetic screening for chromosomopathy is performed in the first trimester of pregnancy by determining fetal nuchal translucency (NT), and the pregnancy associated plasma protein-A (PAPP-A) and free human chorionic gonadotropin (free-beta HCG) biomarkers in maternal serum.We tested the sensitivity, specificity, positive and negative expected values of each marker with the aim of setting a model for prenatal screening readings. Statistical data treatment has been performed on a sample of 340 pregnant women with positive results of prenatal screening.Sensitivity of PAPP-A was 0.6250 (probability 62.50%), free beta HCG 0.5893 (58.93%), NT 0.1785 (17.85%). Specificity of PAPP-A was 0.5106 (probability 51.06%), free beta HCG 0.5246 (52.46%), NT 0.9718 (97.18%). Positive expected value of PAPP-A was 0.2011 (probability 20.11%), free beta HCG 0.1964 (19.64%), NT 0.556 (55.56%). Negative expected value of PAPP-A was 0.8735 (probability 87.35%), free beta HCG 0.8662 (86.62%), NT 0.8571 (85.71%). The NT marker has a significantly higher specificity, which means that its normal value will significantly reduce the final risk of trisomy 21. The sensitivity of NT is much lower than that of biochemical markers, which means that a pathological value of NT does not have a significant influence on the final risk, i.e. the significantly higher sensitivity of biochemical markers will reduce the final risk of trisomy 21.The analyses stress the importance of using a software which has the possibility to separate the level of a biochemical risk by correlating PAPP-A and free beta HCG and, by adding the NT marker, calculate the level of a final risk of Down syndrome.Prenatalni skrining na Daunov sindrom u prvom trimestru trudnoče radi se ultrazvućnim merenjem nuhalne translucencije fetusa (NT) i određivanjem fetoplacentalnih biomarkera u maternalnom serumu: pregnancy associated plasma protein-A (PAPP-A) i free human chorionic gonadotropin (free beta HCG).Ispitana je senzitivnost, specifićnost, pozitivna i negativna predviđena vrednost svakog markera u cilju postavljanja modela tumaćenja prenatalnog skrininga i interpretacija patoloških vrednosti. Ispitivanje je rađeno na uzorku od 340 trudnica sa pozitivnim nalazom prenatalnog skri ninga gde je amniocentezom dobijen kariotip ploda.Senzitivnost PAPP-A bila je 0,6250 (verovatnoča 62,50%), free beta HCG 0,5893 (58,93%), NT 0,1785 (17,85%). Specifićnost PAPP-A bila je 0,5106 (verovatnoča 51,06%), free beta HCG 0,5246 (52,46%), NT 0,9718 (97,18%). Pozitivna predviđena vrednost PAPP-A bila je 0,2011 (verovatnoča 20,11%), free beta HCG 0,1964 (19,64%), NT 0,556 (55,56%). Negativna predviđena vrednost PAPP-A bila je 0,8735 (verovatnoča 87,35%), free beta HCG 0,8662 (86,62%), NT 0,8571 (85,71%). Uticaj PAPPA i free beta HCG na konaćan rizik za trizomiju 21 je približno jednak. NT marker ima znaćajno veču specifićnost što znaći da če njegova normalna vrednost znaćajno oboriti konaćan rizik za trizomiju 21. Senzitivnost NT je mnogo manja od biohemijskih markera, što znaći da patološka vrednost NT neutiće znaćajno na konaćan rizik, odnosno znaćajno veča senzitivnost biohemijskih markera če oboriti konaćan rizik za trizomiju 21.Ove analize ukazuju da je veoma važno koristiti softver za prenatalni skrining koji ima mogučnost da razdvoji posebno nivo biohemijskog rizika korelacijom PAPP-A i free beta HCG i dodavanjem NT markera izraćuna nivo konaćnog rizika za Daunov sindrom. |
| Databáze: | OpenAIRE |
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