Fetal DNA was recovered from 17 of 39 (44%) transcervical cell (TCC) samples obtained between 7 and 9 weeks of gestation by endocervical canal flushing. Trophoblast retrieval was adequate for polymerase chain reaction (PCR) amplification of Y chromosome-specific DNA sequences and detection of paternal-specific microsatellite alleles. The fetal sex predicted by PCR in TCCs was confirmed in all cases by karyotype analysis of chorionic villi at 10 weeks of gestation. The absence of the disease-associated paternal alleles in TCC samples from two pregnancies at risk for spinal muscular atrophy and myotonic dystrophy predicted unaffected fetuses in agreement with subsequent results on chorionic villi and newborns' leukocytes. A trisomy 21 fetus was diagnosed in TCCs using fluorescent in situ hybridization (FISH) and semi-quantitative PCR analysis of superoxide dismutase-1 (SOD 1). Present experience indicates that TCC sampling is a promising technique for early prenatal monitoring of Mendelian disorders and chromosome aneuploidy.

Massari, A., Novelli, G., Colosimo, A., Sangiuolo, F.c., Palka, G., Calabrese, G., et al. (1996). Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells. HUMAN GENETICS, 97(2), 150-155 [10.1007/BF02265257].

Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells

NOVELLI, GIUSEPPE;SANGIUOLO, FEDERICA CARLA;ROMANINI, CARLO;
1996-02-01

Abstract

Fetal DNA was recovered from 17 of 39 (44%) transcervical cell (TCC) samples obtained between 7 and 9 weeks of gestation by endocervical canal flushing. Trophoblast retrieval was adequate for polymerase chain reaction (PCR) amplification of Y chromosome-specific DNA sequences and detection of paternal-specific microsatellite alleles. The fetal sex predicted by PCR in TCCs was confirmed in all cases by karyotype analysis of chorionic villi at 10 weeks of gestation. The absence of the disease-associated paternal alleles in TCC samples from two pregnancies at risk for spinal muscular atrophy and myotonic dystrophy predicted unaffected fetuses in agreement with subsequent results on chorionic villi and newborns' leukocytes. A trisomy 21 fetus was diagnosed in TCCs using fluorescent in situ hybridization (FISH) and semi-quantitative PCR analysis of superoxide dismutase-1 (SOD 1). Present experience indicates that TCC sampling is a promising technique for early prenatal monitoring of Mendelian disorders and chromosome aneuploidy.
feb-1996
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/03 - GENETICA MEDICA
English
Con Impact Factor ISI
Adult; Cervix Uteri; DNA; Down Syndrome; Female; Humans; In Situ Hybridization, Fluorescence; Male; Muscular Atrophy, Spinal; Myotonic Dystrophy; Polymerase Chain Reaction; Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis; Sensitivity and Specificity; Sex Determination Analysis; Superoxide Dismutase; Therapeutic Irrigation; Trophoblasts; Y Chromosome
Massari, A., Novelli, G., Colosimo, A., Sangiuolo, F.c., Palka, G., Calabrese, G., et al. (1996). Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells. HUMAN GENETICS, 97(2), 150-155 [10.1007/BF02265257].
Massari, A; Novelli, G; Colosimo, A; Sangiuolo, Fc; Palka, G; Calabrese, G; Camurri, L; Ghirardini, G; Milani, G; Giorlandino, C; Gazzanelli, G; Malat...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/166528
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