양수세포와 태아조직에서 세포유전학검사 결과의 불일치: 증례보고
Discrepancy in cytogenetic results between amniotic fluid cells and other fetal tissues: A case report
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저자들은 양수천자에서 염색체 핵형이 모자이시즘 (mosaicism)이면서 제대천자에서는 정상핵형을 보이는 2예의 태아를 경험하였다. 첫 번째 태아는 터너 증후군 모자이시즘이고 두 번째 태아는 20번 삼염색체성 모자이시즘 (trisomy 20 mosaicism)이었다. 이러한 증례가 산전에 진단된 경우 예후에 관해서는 확실히 밝혀진 것이 없다. 터너 증후군 모자이시즘 증례는 임신 23+3주에 부모가 원하여 임신 종결하였고 부검 결과에서 터너 증후군의 특징적인 소견은 관찰되지 않았다. 이후 시행된 세포유전학 검사결과는 피부조직에서 45,X[4]/46,XX[52], 폐조직에서는 46,XX였다. 두 번째 증례는 임신 38+2주에 정상 분만하였으며, 출생 당시와 출생 후 3개월에 시행한 검진상 선천성 기형이나 발달 장애 소견은 없었다. 태아 여러 조직에서 염색체 핵형의 불일치는 매우 드문 경우로 문헌 검토와 함께 보고하는 바이다.
Abstract
We present two fetuses who were prenatally diagnosed by amniocentesis as having chromosomal mosaicism but who had a normal karyotype in the fetal blood by cordocentesis. One of the both fetuses had Turner and the other had trisomy 20 mosaicism. The prognosis for Turner mosaicism and trisomy 20 mosaicism diagnosed prenatally has yet to be established. The pregnancy with 45,X/46,XX mosaicism was terminated at 23+3 weeks’ gestation. Autopsy findings showed no features of Turner’s syndrome. Postnatal cytogenetic analysis revealed 45,X[4]/46,XX[52] mosaicism in skin and 46,XX in the lung tissue. The other fetus had amniocytes with trisomy 20 mosaicism and fetal cord blood cells with a normal karyotype. The baby was delivered at 38+2 weeks’ gestation. At birth and 3 months after birth, no apparent abnormal findings were found. These cases with chromosomal discrepancy among various fetal tissues are rare. Two cases were discussed with the review of literature.
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