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

Massari, Antonella; Novelli, Giuseppe; Colosimo, Alessia; Sangiuolo, Federica; Palka, Giandomenico; Calabrese, Giuseppe; Camurri, Lamberto; Ghirardini, G; Milani, Guiti; Giorlandino, Claudio; Gazzanelli, Giancarlo; Malatesta, Manuela; Romaninï, Carlo; Dallapiccola, Bruno

doi:10.1007/bf02265257

Cited by 40 publications

(15 citation statements)

References 28 publications

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“…These studies, as well as those carried out by other investigators (Kawamura et al 1995;Massari et al 1996;BahadoSingh et al 1995;Briggs et al 1995;Ishai et al 1995;Maggi et al 1996;Daryani et al 1997) were all performed on small numbers of samples collected at about 10-12 weeks of gestation, just before termination of pregnancy. The presence of cells from male fetuses was documented using FISH, conventional PCR, or quantitative fluorescent PCR (QF- (Pertl et al 1994;Sherlock et al 1997a,c) with DNA markers specific for chromosome Y.…”

Section: Frequencies Of Fetal Cells In Tcc Samplesmentioning

confidence: 99%

Fetal cells in transcervical samples at an early stage of gestation

Adinolfí

Sherlock

2001

J Hum Genet

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Several investigations are in progress with the aim of performing prenatal diagnosis of inherited disorders by noninvasive or minimally invasive techniques. The most important approaches are based on the detection of fetal nucleated cells in maternal blood, the analysis of fetal DNA present in maternal plasma, and the identification and isolation of fetal trophoblastic cellular elements shed into the uterine cavity and the endocervical canal. In this review, we discuss the methods that have been employed for the collection of the transcervical samples at an early stage of gestation and the techniques used for the identification of fetal cells. We also report the results of using endocervical cells for the detection of fetal chromosomal disorders by fluorescent in-situ hybridization and for performing prenatal diagnosis of fetal Rh(D) phenotypes. Recent investigations have also shown that -after the isolation of trophoblastic cells from maternal contaminants by micromanipulation -transcervical samples can be employed for the prenatal diagnosis of single gene defects, such as those causing thalassemia and sickle cell anemia. Although the present results are promising, further investigations are required to demonstrate the feasibility of performing accurate diagnosis of fetal diseases by this minimally invasive approach in all transcervical samples retrieved at an early stage of gestation.

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Section: Frequencies Of Fetal Cells In Tcc Samplesmentioning

confidence: 99%

Fetal cells in transcervical samples at an early stage of gestation

Adinolfí

Sherlock

2001

J Hum Genet

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“…e results of this study on the one hand con�rm that IUL samples are a valuable source of trophoblastic cells that can be easily isolated [10] and on the other hand suggest that aneuploidies such as trisomy 21 and monosomy X, that account for a remarkable proportion of all clinically relevant chromosomal disorders, can accurately be detected in these cells by a QF-PCR assay. Our results are important, as, in spite of the body of research on TCCs, very little had been previously reported on the detection of chromosomal or genetic disorders using these cells [15][16][17][18][19], which is no doubt a crucial point in view of the possible clinical use of the procedure.…”

Section: Discussionmentioning

confidence: 86%

Detection of Fetal Aneuploidies by QF-PCR in Transcervical Cell Samples

2013

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Objective. To evaluate the accuracy in the diagnosis of aneuploidies of a quantitative �uorescent polymerase chain reaction (QF-PCR) assay on trophoblastic cells recovered from transcervical cells samples (TCCs) collected by intrauterine lavage (IUL). Study Design. DNA analysis was performed on cells of seemingly trophoblastic origin isolated from IUL samples collected prior to �rst trimester termination of pregnancy. e analysis was performed by multiplex QF-PCR, using a panel of 29 polymorphic short tandem repeats (STRs) for the chromosomes X, Y, 21, 13, and 18. Results. e QF-PCR analysis on placental samples revealed that among the three cases studied there were two cases of trisomy 21 and one case of monosomy X; the comparison of peak pro�les obtained from IUL, placental, and maternal samples con�rmed the diagnosis of aneuploidy in all three cases. Conclusion. is study suggests that the detection of chromosomal aneuploidies in micromanipulated TCC samples can be achieved by QF-PCR ampli�cation of selected highly polymorphic and chromosome speci�c markers. With respect to standard karyotype, QF-PCR analysis has the limitation that only numerical abnormalities of selected chromosomes can be detected but retains the advantages of being quicker, less expensive, and less lab demanding.

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“…), provided that fetal clones are identified first by detection of paternal specific microsatellite alleles (Massari et al, 1996) or dinucleotide repeat polymorphisms. The data recorded further imply that between 100 and 1000 fetal cells, approximately, are available for interphase cytogenetic diagnosis, a figure more than sufficient for routine clinical application, considering that immunocytochemical staining for y-globin can identify fetal nucleated red cells (Zheng et al, 1993(Zheng et al, , 1999, thus making a selective FISH analysis possible.…”

Section: Discussionmentioning

confidence: 99%