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Titolo:
CYTOGENETIC STUDIES IN FETAL BLOOD
Autore:
COSTA D; BORRELL A; SOLER A; CARRIO A; MARGARIT E; BALLESTA F; PUERTO B; CABALLIN MR; FORTUNY A;
Indirizzi:
UNIV BARCELONA,HOSP CLIN BARCELONA,GENET SERV,PRENATAL DIAGNOSIS UNIT,VILLARROEL 170 E-08036 BARCELONA SPAIN
Titolo Testata:
Fetal diagnosis and therapy
fascicolo: 3, volume: 13, anno: 1998,
pagine: 169 - 175
SICI:
1015-3837(1998)13:3<169:CSIFB>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
FLUID CELL-CULTURE; PRENATAL-DIAGNOSIS; CHROMOSOME MOSAICISM; DOWN-SYNDROME; ABNORMALITIES; ULTRASOUND; CORDOCENTESIS; THICKNESS; FETUSES;
Keywords:
FETAL BLOOD SAMPLING; PRENATAL DIAGNOSIS; RAPID KARYOTYPE; ULTRASOUND ANOMALIES; MOSAICISM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
28
Recensione:
Indirizzi per estratti:
Citazione:
D. Costa et al., "CYTOGENETIC STUDIES IN FETAL BLOOD", Fetal diagnosis and therapy, 13(3), 1998, pp. 169-175

Abstract

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 ofpregnancy 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 offetal blood samples appears to be effective, rapid and reliable to establish the fetal karyotype in selected cases.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/12/20 alle ore 16:43:55