First trimester prenatal diagnosis of trisomy 21 in fetal cells from maternal blood

Elias, Sherman; Price, James O.; Dockter, Michael E.; Wachtel, Stephen S.; Tharapel, Avirachan T.; Simpson, Joe Leigh; Klinger, KatherineW.

doi:10.1016/0140-6736(92)93041-k

Cited by 128 publications

(45 citation statements)

References 7 publications

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“…So far, the relevant information regarding the frequency of fetal NRBCs in maternal blood is contradictory. SlungaTallberg et al [29] showed that all NRBCs detected in pregnant women during midtrimester were evidently of maternal origin, and their results were inconsistent with those of two other reports [30,31]. In this study, the frequency of fetal cells estimated by microscopic analysis was at least double that estimated by quantitative PCR.…”

Section: Discussioncontrasting

confidence: 55%

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: Discussioncontrasting

confidence: 55%

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

Kuo

1998

Fetal Diagn Ther

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“…Like other studies [44][45][46][47], we detected many more fetal cells in aneuploid pregnancies than in normal pregnancies. As we sampled maternal blood immediately after amniocentesis in these cases, an objection might be that the invasive procedure could have affected our results.…”

Section: Discussionsupporting

confidence: 66%

Prenatal Diagnosis of Genetic Abnormalities Using Fetal CD34⁺Stem Cells in Maternal Circulation and Evidence They Do Not Affect Diagnosis in Later Pregnancies

et al. 2001

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In the present study, we report a new method for enrichment and analysis of fetal CD34 + stem cells after culture in order to determine whether it is feasible for noninvasive prenatal diagnosis. We also determined whether fetal CD34 + stem cells persist in maternal blood after delivery and assessed whether they have an impact on noninvasive prenatal diagnosis of genetic abnormalities.Peripheral blood samples were obtained from 35 pregnant women, 13 non-pregnant women who had given birth to male offsprings, 12 women who had never been pregnant, and eight pregnant women with male fetuses. CD34 + stem cells were enriched and either cultured for prenatal diagnosis or analyzed with fluorescence in situ hybridization (FISH)/polymerase chain reaction (PCR) to determine peristance in maternal blood. Fetal/maternal cells can be isolated and grown "in vitro" to provide enough cells for a more accurate fetal sex or aneuploid prediction than is provided by unenriched and uncultured CD34+ stem cells. The presence of fetal cells in maternal blood samples from mothers who had given birth to male offspring was found in 3 of 13 blood samples. PCR was positive for Y chromosome in one woman who had never been pregnant. Analysis of cultured CD34 + stem cells from mothers with Y PCR positivity did not detect any male cells in any samples. Even if PCR positivity is due to persistence of fetal stem cells from previous pregnancies, it does not seem to affect this new system of enrichment, culture, and FISH analysis of CD34 + fetal stem cells.

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“…Using such a system, I was indeed able to demonstrate the detection of fetal DNA among maternal blood cells (8 ). Other workers soon also reported detecting circulating fetal cells using PCR (9,10 ) and molecular cytogenetic methods (11 ), in combination with various fetal cell-enrichment techniques. However, all of these efforts, including my own, were hampered by problems such as false positivity and false negativity.…”

mentioning

confidence: 93%

Noninvasive Prenatal Diagnosis: From Dream to Reality

2015

Clinical Chemistry

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First trimester prenatal diagnosis of trisomy 21 in fetal cells from maternal blood

Cited by 128 publications

References 7 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

Prenatal Diagnosis of Genetic Abnormalities Using Fetal CD34⁺Stem Cells in Maternal Circulation and Evidence They Do Not Affect Diagnosis in Later Pregnancies

Noninvasive Prenatal Diagnosis: From Dream to Reality

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First trimester prenatal diagnosis of trisomy 21 in fetal cells from maternal blood

Cited by 128 publications

References 7 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

Prenatal Diagnosis of Genetic Abnormalities Using Fetal CD34+Stem Cells in Maternal Circulation and Evidence They Do Not Affect Diagnosis in Later Pregnancies

Noninvasive Prenatal Diagnosis: From Dream to Reality

Contact Info

Product

Resources

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Prenatal Diagnosis of Genetic Abnormalities Using Fetal CD34⁺Stem Cells in Maternal Circulation and Evidence They Do Not Affect Diagnosis in Later Pregnancies