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KMID : 0358420090520121319
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Korean Journal of Obstetrics and Gynecology
2009 Volume.52 No. 12 p.1319 ~ p.1321
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Discrepancy in cytogenetic results between amniotic fluid cells and other fetal tissues: A case report
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Park Jeong-Woo
Oh Sun-Kyung
Choi Young-Min
Moon Shin-Yong
Syn Hee-Chul
Kang Hye-Sim
Oh Kyung-Joon
Park Chan-Wook
Ahn Hyun-Sook
Park Joong-Shin
Jun Jong-Kwan
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Abstract
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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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KEYWORD
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Fetoamnionic chromosomal discrepancy, Fetoplacental chromosomal discrepancy, Trisomy 20 mosaicism, Turner mosaicism
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