Detection of fetal cells with 47,XY,+21 karyotype in maternal peripheral blood

Bianchi, Diana W.; Mahr, Anna; Zickwolf, Gretchen K.; Houseal, Timothy W.; Flint, Alan; Klinger, Katherine W.

doi:10.1007/bf00220460

Cited by 124 publications

(79 citation statements)

References 10 publications

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“…These invasive procedures carry a small but significant risk for the fetus. Recovery of fetal cells from maternal circulation is a noninvasive procedure and obviates any fetal risk [1][2][3][4]. Because the fetal cells are not pure, the enriched mixtures of such cells are studied mainly by in situ hybridization for interphase cytogenetic analysis or PCR for fetal sex determination.…”

Section: Introductionmentioning

confidence: 99%

Frequencies of Fetal Nucleated Red Blood Cells in Maternal Blood during Different Stages of Gestation

Kuo

1998

Fetal Diagn Ther

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Nucleated red blood cells (NRBCs) isolated by a triple density gradient from 100 ml peripheral blood samples of 100 pregnant women and 30 women postpartum were subjected to morphological analysis and PCR quantitation. The number of NRBCs steadily increased from 5.3 (frequency: 2.4 × 10^–7) in early gestation to 98.2 (frequency: 4.2 × 10^–6) near term. The number of male cells increased from 6 (frequency: 2.7 × 10^–7) in early gestation to a peak of 31 (frequency: 1.48 × 10^–6) in the second trimester, and slightly decreased to 27 (frequency: 1.31 × 10^–6) near term. Both NRBCs and male fetal cells rapidly disappeared after delivery. The result implies that a significant proportion of NRBCs in maternal blood are of fetal origin before 24 weeks of gestation while in late gestation the majority of NRBCs may be of maternal origin.

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Section: Introductionmentioning

confidence: 99%

Frequencies of Fetal Nucleated Red Blood Cells in Maternal Blood during Different Stages of Gestation

Kuo

1998

Fetal Diagn Ther

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“…It has been known for over a century that fetal cells migrate into the maternal circulation, although these fetal cells are usually very rare. One approach for NIPD has, therefore, been to enrich or isolate these rare fetal cells, either for cytogenetic analysis by fluorescent in situ hybridization (FISH), or for analysis of fetal cell DNA by other molecular techniques (Bianchi et al, 1992;BayrakToydemir et al, 2003;Guetta et al, 2005;Bianchi and Hanson, 2006;Saker et al, 2006;Mavrou et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

Untitled

2008

Prenatal Diagnosis

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The discovery of cell-free fetal (cff) DNA and RNA in the maternal circulation has driven developments in noninvasive prenatal diagnosis (NIPD) for the past decade. Detection of paternally derived alleles in cff DNA is becoming well established. Now much interest is focussing on NIPD of fetal chromosomal abnormalities, such as trisomy 21, which is a considerable challenge because this demands accurate quantitative measurements of the amounts of specific cff DNA or cff RNA sequences in maternal blood samples. Emerging strategies for distinguishing and quantifying the fetal nucleic acids in the maternal circulation promise continued development of the field, and pose a number of unanswered questions.

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“…In the past, a lot of effort was put into analysis of intact fetal cells in the maternal circulation [Bianchi et al, 1992;Gänshirt-Ahlert et al, 1993;Bianchi, 1999;Lim et al, 2001;Christensen et al, 2005], with limited success. Although these cells are a pure source of fetal genomic material and a widely available technique like FISH could be used for analysis, isolation of these scarce fetal cells until now has proven problematic and laborious [Hahn et al, 2011].…”

Section: Application Of Array-cgh In the Light Of Future Developmentsmentioning

confidence: 99%

From Karyotyping to Array-CGH in Prenatal Diagnosis

Lichtenbelt

Knoers²,

Schuring-Blom³

2011

Cytogenet Genome Res

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Conventional karyotyping detects chromosomal anomalies in up to 35% of pregnancies with fetal ultrasound anomalies, depending on the number and type of these anomalies. Extensive experience gained in the past decades has shown that prenatal karyotyping is a robust technique which can detect the majority of germline chromosomal anomalies. For most of these anomalies the phenotype is known. In postnatal diagnosis of patients with congenital anomalies and intellectual disability, array-CGH/SNP array has become the first-tier investigation. The higher abnormality detection yield and its amenability to automation renders array-CGH also suitable for prenatal diagnosis. As both findings of unclear significance and unexpected findings may be detected, studies on the outcome of array-CGH in prenatal diagnosis were initially performed retrospectively. Recently, prospective application of array-CGH in pregnancies with ultrasound anomalies, and to a lesser extent in pregnancies referred for other reasons, was studied. Array-CGH showed an increased diagnostic yield compared to karyotyping, varying from 1–5%, depending on the reason for referral. Knowledge of the spectrum of array-CGH anomalies detected in the prenatal setting will increase rapidly in the years to come, thus facilitating pre- and posttest counseling. Meanwhile, new techniques like non-invasive prenatal diagnosis are emerging and will claim their place. In this review, we summarize the outcome of studies on prenatal array-CGH, the clinical relevance of differences in detection rate and range as compared to standard karyotyping, and reflect on the future integration of new molecular techniques in the workflow of prenatal diagnosis.

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Detection of fetal cells with 47,XY,+21 karyotype in maternal peripheral blood

Cited by 124 publications

References 10 publications

Frequencies of Fetal Nucleated Red Blood Cells in Maternal Blood during Different Stages of Gestation

Frequencies of Fetal Nucleated Red Blood Cells in Maternal Blood during Different Stages of Gestation

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From Karyotyping to Array-CGH in Prenatal Diagnosis

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