Quadruple Test 소개 진단검사의학과생화학파트박은정 2012. 06. 14
목차 1 2 3 4 5 도입배경 Quadruple test 의검사항목및임상적의의 Performance Evaluation Risk Assessment Summary
도입배경 임싞중기 (15~20 주 ) 산모혈청을이용핚태아기형아 검사인 Quadruple Test 를그갂강남세브란스병원으로 의뢰하던것을 2012 년 5 월 4 일부터본원에서시행함 이곳에이미지를삽입해보세요
산모정기진찰시검사항목 시기 ( 주수 ) 최초방문시 실시항목 초음파, 빈혈검사, 혈액형검사, 풍진항체검사, B 형갂염검사, 에이즈검사, 소변검사, 자궁경부세포진검사 9 13 초음파 ( 목덜미투명대 ), 융모막융모생검, 이중표지물질검사 15-20 사중표지물질검사, 양수검사 20 24 임싞중기초음파, 태아심장초음파 24 28 임싞성당뇨선별검사, 빈혈검사 28 Rh 음성인경우면역글로불린주사 32-36 초음파검사 ( 태아체중, 태반위치, 양수량 ) 대핚산부인과학회 http://www.ksog.org/woman/info04.php?cat01=01&cat02=01
Maternal Serum Prenatal Biochemical Screening Test 이중표지물질검사 (Dual test) : 임싞 9~13주 Free beta HCG PAPP-A (pregnancy-associated plasma protein A) 사중표지물질검사 (Quadruple test) : 임싞 15~20주 AFP Unconjugated estriol Human chorionic gonadotropin (HCG) Dimeric inhibin A (DIA)
Current Down syndrome screening protocol 1. Dual marker만함 2. Dual marker + Quad test 를다시행하고각각의위험률은따로따로그때그때분석함 : Independent sequential screening 3. Dual marker + Quad test 를시행후각각의값을함께분석하여분석값을최종적으로 quad 후에냄 : integrated screening 4. Dual marker 를시행하여분석값을핚번알려주고 screen negative 인산모에대해서임싞 2분기에 Quad test 를시행핚후이젂에했던 dual값과 quad 값을함께분석하여위험률제시 : stepwise sequential screening
Down Syndrome Screening Tests and Detection Rates (5% Positive Screen Rate) ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol 2007;109:217-227.
건수 2011 년 Quadruple Test 검사건수 ( 단위 : 건 ) 구분 1 월 2 월 3 월 4 월 5 월 6 월 7 월 8 월 9 월 10 월 11 월 12 월 Quadruple Test 강남 14 10 11 11 12 16 16 13 11 11 19 14 싞촌 33 23 54 28 49 41 33 46 39 35 29 38 Triple marker 1 1 5 2 1 3 1 3 1 1 3 2
Triple test To classify a patient as either high-risk or low-risk for chromosomal abnormalities (and neural tube defects) AFP, estriol, and beta-hcg The Triple test measures serum levels of AFP, estriol, and beta-hcg, with a 70% sensitivity and 5% falsepositive rate
Quadruple test Quadruple screen test is a routine antenatal screening of mother s blood at 16 weeks (15~20 weeks) of pregnancy Quadraple test Triple test + Dimeric Inhibin A (DIA) Resulting in an 81% sensitivity and 5% false-positive rate (cf: Triple test: a 70% sensitivity and 5% false-positive rate)
Quadruple test Recommended for women - Have a family history of birth defects - Are 35 years or older Down syndrome All Chromosomal Abnormalities - Used possible harmful medications or drugs during pregnancy - Have diabetes and use insulin - Had a viral infection during pregnancy - Have been exposed to high levels of radiation
Quadruple test Alpha-fetoprotein (AFP) Unconjugated estriol (ue3) Human chorionic gonadotropin (hcg) Dimeric Inhibin A (DIA)
Alpha-fetoprotein (AFP) 태아의갂과난황에서생산되는당단백물질 알부민과매우유사하며태아순환에있어매우중요 임싞 12~15주에수치가최고조에달함 싞경관결손증 ( 무뇌아, 이분척추 ) 태아에서수치가증가 다운증후군태아에서수치가감소 성인의 AFP 수치증가는종양이나질병을의심하는지표
Unconjugated estriol (ue3) 태반에서생성되는스테로이드호르몬 태아의성장상태나태반의기능을나타내는지표 임싞 15~22주동안수치가증가 비만, 자궁내막염, 부싞피질과형성, 갂질환시수치가증가 포상기태, 뇌하수체젂엽기능저항증시수치가감소 다운증후군태아에서수치가감소
Human chorionic gonadotropin (hcg) 태반에서생성되는당단백호르몬으로 α와 β 두개의 chain으로구성 가임후첫 3개월갂수치가계속상승 임싞 15~22주동안수치가감소 융모막암종 (choriocacinoma ), 임싞성융모막성질환 (Hmole ), 비융모막성종양시수치가증가 젃박유산, 자궁외임싞시수치가감소 다운증후군태아에서수치가증가
Dimeric Inhibin A (DIA) 여성난소의과립세포와남성고환의세르톨리세포에서분비되는 dimeric 단백질 선택적으로난포자극호르몬 (FSH) 의분비를억제 난소의기능을모니터링하는유용핚지표 다운증후군태아에서수치가증가
Multiple of the median(mom) 태령 16~20 주태령에따른모체혈청농도의중앙값 (Median) 을이용핚분석으로얻어진결과 결과들을 MoM 의비로보고
Interpretation 80 percent of the cases of fetal chromosomal defect can be detected when the above three evaluations are included in perinatal screening. However, false positive and false negative results are possible.
Evaluation 1. Precision 기갂 : 2012. 2. 20 2012. 2. 24 방법 : Level Low, Medium, High 3 개이용하여 5 일갂반복측정후 CV(%) 평가
- Alpha-fetoprotein (AFP) Mean SD within CV(%) within SD total CV(%) total Low 7.3 0.3 4.0 0.3 3.6 Medium 29.9 1.1 3.6 0.9 3.1 High 68.0 1.8 2.6 2.6 3.8 - Unconjugated estriol (ue3) Mean SD within CV(%) within SD total CV(%) total Low 0.58 0.04 6.71 0.04 6.61 Medium 1.75 0.03 1.98 0.04 2.49 High 5.33 0.19 3.64 0.21 3.94
- Human chorionic gonadotropin (hcg) Mean SD within CV(%) within SD total CV(%) total Low 7368 320 4.3 385 5.2 Medium 28147 1467 5.2 1574 5.6 High 50275 3579 7.1 3360 6.7 - Inhibin A (DIA) Mean SD within CV(%) within SD total CV(%) total Low 155 7.4 4.8 6.9 4.5 Medium 420 18.4 4.4 18.0 4.3 High 819 31.8 3.9 33.9 4.1
2. Linearity - 기갂 : 2012. 3. 9 - 사용물질 : Level 1 - ( 저농도 ) Level 2 - Level 1 (75 %) + Level 5 (25%) Level 3 - Level 1 (50 %) + Level 5 (50%) Level 4 - Level 1 (25 %) + Level 5 (75%) Level 5 - ( 고농도 ) - 평가기준 : 오차율 % = ( 실측값 - 기대값 ) X 100 / 기대값오차율 % 가 ± 10% 이내 검사명측정범위 Level 1 Level 5 AFP 0.5 3000 ng/ml 1.0 ng/ml 2200.6 ng/ml ue3 0.017 6.9 pg/ml 0.095 pg/ml 3.118 pg/ml hcg 1000 200000 miu/ml 1730.0 miu/ml 141160 miu/ml Inhibin A 1 1500 pg/ml 10.1 pg/ml 803.4 pg/ml
기대값 기대값 2500 Item : AFP 4 Item : UE3 2000 y = 1.0074x - 4.9615 R² = 0.9992 3 3 y = 0.9979x + 0.0217 R² = 0.9998 1500 2 1000 2 1 500 1 0 0 500 1000 1500 2000 2500 실측값 0 0 1 1 2 2 3 3 4 실측값
기대값 기대값 160000 Item : Dil-hCG 900 Item : Inhibin A 140000 120000 y = 1.0129x - 95.727 R² = 0.9975 800 700 y = 0.976x + 3.904 R² = 0.9978 100000 80000 60000 40000 600 500 400 300 200 20000 100 0-10000 10000 30000 50000 70000 90000 110000 130000 실측값 0 0 200 400 600 800 1000 실측값
3. Comparison - 검사방법 : UniCel DxI800 (Beckman Coulter) 기존 : 강남세브란스싞규 : 싞촌세브란스 - 비교검체 : 64 검체 - 기갂 :2011. 11. 11~ 2011. 11. 17 검사명 Number of analyte Low Range High AFP 64 23.8 175.3 ng/ml ue3 64 0.5 3.8 pg/ml hcg 64 10413.5 130478.8 miu/ml Inhibin A 64 79.9 455.6 pg/ml
- Alpha-fetoprotein (AFP) - Unconjugated estriol (ue3)
- Human chorionic gonadotropin(hcg) - Inhibin A (DIA)
검사의뢰서식지
Benetech PRA program Interprets both maternal serum and amniotic fluid alphafetoprotein results, with the optional use of other serum and ultrasound markers in the first and second trimester of pregnancy AFP, ue3, hcg, InhibinA risk for Down Syndrome, Open Spina Bifida, Trisomy 18 분석시필요핚정보 - 환자이름, 생년월일, 인종, 분만예정일 (U/S or LMP), 환자체중, 검체채취일, 흡연, 당뇨, 분만횟수, 임싞횟수, 태아의수 - UniCel DxI800 (Beckman Coulter) 로검사핚 AFP, ue3, hcg, InhibinA 검사결과
Report Scan
검사결과서식지
일치율 Down Syndrome 싞촌 + - Open Spina Bifida 싞촌 + - 강남 + 5 0-0 15 강남 + 0 0-0 20 Trisomy 18 싞촌 + - 강남 + 1 0-0 19
Summary 그갂강남세브란스병원으로의뢰하던 quadruple test 의 본원에서의 evaluation 결과일치도가양호함 5 월 1 달갂 38 건시행 검사의뢰서식지내용젂송및 Benetech 결과 LIS interface 시행시업무효율증가예상
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