골격 이형성증의 산전 진단에 있어서 초음파 및 분자 유전학적 검사의 유용성에 관한 고찰
Prenatal detection of skeletal dysplasia using ultrasound and molecular diagnosis
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목적: 골격 이형성증의 산전 진단에 있어서 초음파 검사의 정확성 및 분자유전학적 검사의 유용성을 평가해 보고자 한다. 연구 방법: 1998년 3월부터 2005년 8월까지 이대 목동병원 및 을지대학병원에서 산전에 초음파 검사로 골격 이형성증이 진단되었던 17예와 그 중에서 골격 이형성증의 진단을 위하여 분자유전학적 검사를 실시하였던 7예와 골격 이형성증의 가족력이 있는 가계에서 임신 제1삼분기 때 분자유전학적 검사를 실시하였던 2예를 대상으로 하였다. 골격 이형성증의 최종 진단은 출생 후 방사선과적 검사와 분자유전학적 검사로 확진하였다. 결과: 골격 이형성증이 산전에 초음파로 진단된 평균 임신주수는 24.9주였고 (범위: 17~35주), 이중 9예 (53%)는 24주 전에 진단되었다. 골격 이형성증의 최종진단은 16예 (94.1%)에서 얻어졌고, 1예의 위양성 진단이 있었다. 최종 진단 결과 산전 진단은 14예 (82.4%)에서 정확하였다. 골격 이형성증의 진단을 위하여 8예에서 산전에, 1예에서 산후에 분자유전학적 검사를 실시하였으며 이를 통해 골격 이형성증의 예측 및 확진을 할 수 있었다. 산전 초음파상 이상소견을 보이지 않지만 골격 이형성증의 가족력이 있는 2예에서 임신 제1삼분기 때 융모막 융모 생검술을 시행하여 골격 이형성증을 배제할 수 있었다. 결론: 산전 초음파 검사는 태아의 골격 이형성증을 진단하는 데 매우 우수한 진단 방법이며 특히 예후가 치명적인 골격 이형성증을 정확히 진단할 수 있었다. 또한 분자유전학적 검사 가족력이 있는 가계에서 산전 초음파로 진단이 불가능한 임신 제1삼분기 때 빠르게 골격 이형성증을 진단할 수 있으며 비치사성 골격 이형성증인 경우 산전 초음파상 비특이적인 소견을 보여 진단하기 어려울 때 확진검사로 이용할 수 있다.
Abstract
Objective: To determine the accuracy and usefulness of prenatal ultrasonographic and molecular genetic diagnosis in detection of skeletal dysplasia. Methods: This study was based upon data of the 17 cases of skeletal dysplasia diagnosed by prenatal ultrasound and 7 cases by molecular diagnosis performed among the 17 cases and the 2 cases who has familial skeletal dysplasia by molecular diagnosis during the first trimester at Ewha and Eulji University from March 1998 to August 2005. A final diagnosis was sought on the basis of radiographic studies, molecular testing, or both. Results: The mean gestational age at diagnosis was 24.9 weeks (range, 17 to 35 weeks). Nine cases were diagnosed before 24 weeks. A final diagnosis was obtained in 16 cases (94.1%). There was 1 false-positive diagnosis. The antenatal diagnosis was correct in 14 cases (82.4%). The 8 cases were prenatally confirmed and 1 case was postpartum confirmed using molecular genetic testing and accurate antenatal diagnosis and prediction was done. We were able to rule out skeletal dysplasia through chorionic villus sampling during the first trimester in the 2 cases with the family history with skeletal dysplasia. Conclusion: Prenatal diagnosis of skeletal dysplasia can be a considerable diagnostic challenge. However, skeletal dysplasia is correctly diagnosed on the basis of prenatal meticulous ultrasound and antenatal prediction of lethality was highly accurate. Using prenatal molecular diagnosis, skeletal dysplasia can be diagnosed at first trimester of pregnancy and nonlethal skeletal dysplasia can be confirmed when prenatal ultrasound was nonspecific.
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