TY - JOUR
T1 - Discordant direct and culture results following chorionic villus sampling and the diagnosis of a third cell line in the fetus
AU - Phillips, Owen P.
AU - Velagaleti, Gopalrao V.N.
AU - Tharapel, Avirachan T.
AU - Shulman, Lee P.
PY - 1997/2
Y1 - 1997/2
N2 - We report a case of discordant non-mosaic karyotypes following chorionic villus sampling (CVS). A 45,XX,der(21;21)(q10;q10) karyotype was found on direct preparation of cytotrophoblasts and 46,XX was found on long-term culture of mesenchymal core cells. Analysis of amniotic fluid cells and fetal tissue revealed a third karyotype: 46,XX,+21,der(21;21)(q10;q10). Had only culture analysis been performed, follow-up studies might not have been undertaken. This case demonstrates the importance of direct CVS preparation in helping to identify fetal abnormalities, and the need for follow-up of discordant CVS results.
AB - We report a case of discordant non-mosaic karyotypes following chorionic villus sampling (CVS). A 45,XX,der(21;21)(q10;q10) karyotype was found on direct preparation of cytotrophoblasts and 46,XX was found on long-term culture of mesenchymal core cells. Analysis of amniotic fluid cells and fetal tissue revealed a third karyotype: 46,XX,+21,der(21;21)(q10;q10). Had only culture analysis been performed, follow-up studies might not have been undertaken. This case demonstrates the importance of direct CVS preparation in helping to identify fetal abnormalities, and the need for follow-up of discordant CVS results.
KW - Chorionic villus sampling
KW - Mosaic trisomy 20
KW - Robertsonian translocations
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U2 - 10.1002/(SICI)1097-0223(199702)17:2<170::AID-PD28>3.0.CO;2-H
DO - 10.1002/(SICI)1097-0223(199702)17:2<170::AID-PD28>3.0.CO;2-H
M3 - Article
C2 - 9061767
AN - SCOPUS:0031048551
SN - 0197-3851
VL - 17
SP - 170
EP - 172
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
IS - 2
ER -