임신을 하여 산부인과에 다니게 되면, 의사 선생님으로부터 산전 기형아 검사를 권유 받게 됩니다. 예전에는 트리플(tiple) 검사, 쿼드(quad) 검사 등을 시행하였지만 최근에는 좀 더 정확한 것으로 알려진 Integrated test (인테그레이티드 검사)를 시행하는 병원이 많아지고 있습니다. 오늘은 integrated test에 대해서 알아보도록 하겠습니다.
Integrated test 란?
Integrated test는 사전적 의미로 통합적인 검사라는 말입니다. 무엇이 통합되었다는 뜻일까요? 인테그레이티드 검사는 과거에 임신 중기(14주~22주)에 시행하던 쿼드검사에 더하여 임신 초기(10주~13주)에 초음파로 후경부 투명대 (NT, Nuchal Translucency) 길이를 측정하고, 임신관련 혈장 단백 A (PAPP-A, pregnancy-associated plasma protein A)를 측정하여, 이 모든 것을 합하여 기형아 출산 확률을 통합적으로 계산하는 검사입니다.
쿼드검사는 산모의 혈액을 채취하여 AFP, hCG, uE3, inhibin-A, 이렇게 4가지 호르몬의 농도를 측정하고, 이를 바탕으로 MoM이라는 값을 계산하여, 다운증후군이나 에드워드 증후군과 같은 염색체 이상의 확률을 도출하게 된다.
후경부 투명대(NT)는 임신 초기에 많이 시행되는 검사로, 이것이 두꺼워질수록 다운증후군 등의 기형아의 확률이 올라가는 것이 보고되었습니다.
임신관련 혈장단백 A (PAPP-A)는 임신 중에 정상적으로 생성되는 단백질로서, 염색체 이상일 경우에는 수치가 낮아진다는 것이 밝혀진 바 있습니다.
즉, Integrated test는 쿼드검사 + NT + PAPP-A 를 모두 통합하여 염색체 이상 여부를 알아보는 검사라고 할 수 있습니다.
Integrated test 양성 의미와 확진 검사
인테그레이티드 검사 결과는 위와 같이 기준 위험도와 계산된 RISK를 비교하여 양성, 음성으로 판정합니다. DOWN은 21번 염색체가 3개인 다운 증후군, EDWARD는 18번 염색체가 3개인 에드워드 증후군, NTD (neutral tube defect)는 신경관 결손을 의미합니다. 하지만, 인테그레이티드 검사에서 양성이라고 무조건 염색체 이상에 해당하지는 않습니다.
영국과 미국에서 시행된 대규모 연구에 따르면, 인테그레이티드 검사는 다운증후군 발견율이 85%정도이고, 위양성률은 1.0~2.8%로 보고되었습니다. 또한, 양성 결과시 실제 다운증후군에 이환되었을 확률은 5명당 1명으로 나타났습니다.
다른 검사들보다는 염색체 이상의 발견율이 높고 위양성률은 낮은 좋은 검사이긴 하지만, 어디까지나 인테그레이티드 검사는 선별 검사(screening test)에 해당합니다.
이 검사에서 양성 결과가 나왔을 경우에는 침습적인 검사인 양수천자나 융모막 생검을 추가적으로 시행해 확진해야 합니다. 인테그레이티드 검사에서 양성이 나왔다고 하더라도, 5명 중에 1명에서만 실제로 다운증후군이 확인이 됩니다. 반면, 쿼드검사 양성에서는 32명중 1명, 트리플 검사 양성에서는 49명중 1명에서만 실제로 다운증후군이 확인되기 때문에 인테그레이티드 검사는 불필요한 침습적인 검사(양수천자, 융모막 생검)을 피할 수 있는 좋은 선별 검사라고 할 수 있겠습니다.
진단검사 기술이 발전하면서 환자들이 침습적인 검사를 해야하는 경우가 줄어들어 다행이네요
침습적인 검사는 의사나 환자 모두에게 부담이되니 좋은일인것 같아요.
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