TY - JOUR
T1 - Cytogenetic studies in fetal blood
AU - Costa, D.
AU - Borrell, A.
AU - Soler, A.
AU - Carrió, A.
AU - Margarit, E.
AU - Ballesta, F.
AU - Puerto, B.
AU - Caballín, M. R.
AU - Fortuny, A.
PY - 1998/7/22
Y1 - 1998/7/22
N2 - In order to assess the effectiveness and reliability of cytogenetic diagnosis provided by fetal blood, we report the first 186 cases of fetal blood sampling performed for rapid karyotype between 19-37 weeks of pregnancy in our Prenatal Diagnosis Unit. The overall diagnostic success rate was 98%, achieving 100% in the last period of the study. Chromosomal anomalies were detected in 16% (29/182) of the fetuses. In malformed fetuses this rate increased from 8-9% in isolated malformation or markers of aneuploidy to 50% in multiple malformations. In pregnancies in which a previous cytogenetic study in amniotic fluid was inconclusive, fetal blood made it possible to obtain a definitive result, with no discrepancies found at phenotypic follow-up examination. Interestingly enough, one of the four previously defined as pseudomosaicisms was found to be a non-mosaic in fetal blood, and only 1 of 4 mosaicisms was confirmed in fetal blood. In conclusion, cytogenetic analysis of fetal blood samples appears to be effective, rapid and reliable to establish the fetal karyotype in selected cases.
AB - In order to assess the effectiveness and reliability of cytogenetic diagnosis provided by fetal blood, we report the first 186 cases of fetal blood sampling performed for rapid karyotype between 19-37 weeks of pregnancy in our Prenatal Diagnosis Unit. The overall diagnostic success rate was 98%, achieving 100% in the last period of the study. Chromosomal anomalies were detected in 16% (29/182) of the fetuses. In malformed fetuses this rate increased from 8-9% in isolated malformation or markers of aneuploidy to 50% in multiple malformations. In pregnancies in which a previous cytogenetic study in amniotic fluid was inconclusive, fetal blood made it possible to obtain a definitive result, with no discrepancies found at phenotypic follow-up examination. Interestingly enough, one of the four previously defined as pseudomosaicisms was found to be a non-mosaic in fetal blood, and only 1 of 4 mosaicisms was confirmed in fetal blood. In conclusion, cytogenetic analysis of fetal blood samples appears to be effective, rapid and reliable to establish the fetal karyotype in selected cases.
KW - Fetal blood sampling
KW - Mosaicism
KW - Prenatal diagnosis
KW - Rapid karyotype
KW - Ultrasound anomalies
U2 - https://doi.org/10.1159/000020832
DO - https://doi.org/10.1159/000020832
M3 - Article
SN - 1015-3837
VL - 13
SP - 169
EP - 175
JO - Fetal Diagnosis and Therapy
JF - Fetal Diagnosis and Therapy
ER -