Fetal cells in transcervical samples at an early stage of gestation

Adinolfí, Matteo; Sherlock, Jon

doi:10.1007/s100380170095

Cited by 29 publications

(23 citation statements)

References 21 publications

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“…Work by us and others is in progress to develop new methods to label cells using fetal‐specific markers and separate them from maternal cells using microfluidics and other advanced cell‐sorting technologies. In addition, fetal cells have been identified in maternal endocervix in a much higher percentage than in maternal circulation, which provides an additional potential source for isolation of fetal cells . One concern for prenatal diagnosis using fetal cells is that some types of fetal cells (e.g.…”

Section: Discussionmentioning

confidence: 99%

“…1 In addition, fetal trophoblasts have been identified in endocervical specimens at an early stage of gestation. 2,3 Cell-free fetal DNA is relatively abundant in the maternal circulation but it is fragmented and not physically separated from cell-free maternal DNA. In contrast, the genomic DNA of circulating intact fetal cells represents a complete fetal genome that is physically separated from maternal cellular and cell-free DNA.…”

Section: Introductionmentioning

confidence: 99%

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Detection of ≥1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays

Breman

Shaw

et al. 2012

Prenatal Diagnosis

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Aneuploidy and genomic imbalances with CNVs as small as 1.2Mb in a single cell are detectable by array CGH using arrays with high-density coverage in the targeted regions. This approach has the potential to be applied for preimplantation genetic diagnosis to detect aneuploidy and common microdeletion/duplication syndromes and for noninvasive prenatal diagnosis if single fetal cells can be isolated.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Detection of ≥1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays

Breman

Shaw

et al. 2012

Prenatal Diagnosis

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“…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. 32 Efficient recovery of placental cells (and their subsequent characterization) has been obtained from the lower uterine pole by transcervical intrauterine f lushing [using 0.15 M sodium chloride (NaCl)] or mucus aspiration. Embryo transfer (ET) catheters can be used in both procedures.…”

Section: Prenatal Diagnosis By Transcervical Recovery Of Placental Cellsmentioning

confidence: 99%

Prenatal Diagnosis, Where and How: No Way Out?

Borruto¹,

Treisser²,

Comparetto³

2014

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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Prenatal diagnosis is the branch of medicine and in particular of obstetrics, that studies and applies the techniques that reveal the normality or the presence of diseases of various kinds, in the fetus. All the techniques of prenatal diagnosis are performed during pregnancy and may be invasive or less. Among the best known, amniocentesis is the most exploited technique nowadays to highlight the possible presence of chromosomal disorders in the fetus, but also infections and genetic diseases such as thalassemia, cystic fibrosis, hemophilia, spina bifida, albinism. Amniocentesis consists of taking an amniotic fluid sample which is then analyzed. Fetal cells suspended in the withdrawn liquid allow us to reconstruct the chromosome map of the fetus and then to confirm or not its normality. Genetic testing, however, are not able to recognize the physical or mental characteristics of the unborn child which are the result of the interaction between multiple genes and the environment. Amniotic fluid makes possible to perform other types of analysis, more or less complex, and it is also possible to store the amniotic stem cells. Similar to amniocentesis as a principle but different as a technique, is chorionic villus sampling (CVS), in which the cells can be put in culture to show their normality, but they are cells taken outside from the gestational chamber (chorionic villi). These are invasive techniques (the fluid is taken by puncture in both cases), but there are also noninvasive techniques. The development of ultrasound, for example, has made it possible to develop some highly sensitive diagnostic techniques, such as the first trimester combined test [bitest and nuchal translucency (NT)], the 'quadruple' test, and lately the SCA test in the second trimester, all based on the ultrasound measurement of anatomical and functional parameters of the fetus and on the results of blood tests. These are all screening tests, then they do not give a definite answer but they have a statistical value (very accurate) that can direct toward diagnostic tests. Recently, an extremely sensitive test for the most common aneuploidies and in particular Down syndrome has been proposed to be performed on maternal blood. This test (called fetal DNA testing) is based on the count of fragments of specific chromosomes (21 in the case of Down syndrome) in maternal blood. Although not belonging to diagnostic tests but to probabilistic ones, this test is absolutely the most accurate so far available, with values around 99.99% sensitivity and 0.2% false positives. Also ultrasound in the second trimester of pregnancy (also called morphological ultrasound) that can detect any malformation or fetal abnormality and fetal echocardiography, which analyzes sonographically the fetal heart not only anatomically but also from the dynamic-functional point of view, may be considered methods of prenatal diagnosis. This technique cannot identify genetic diseases.

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“…A more effective method in terms of fetal cell yield is intrauterine lavage (IUL), in which a flexible catheter connected to a syringe filled with normal saline is used to flush the endometrial cavity. IUL and the other methods for TCC sampling are illustrated in an article by Adinolfi and Sherlock (12). …”

Section: Retrieval Of Trophoblast Cells From the Cervixmentioning

confidence: 99%

“…1) as laboratory methods are refined and standardized. The publication of both encouraging and discouraging reports of TCC sampling reliability warrants a reexamination of this topic, which has been previously surveyed (9;12;13). Here, we review the pertinent literature that describes TCC collection, the isolation of fetal cells, their subsequent analysis, and its applicability in the practice of modern clinical medicine.…”

Section: Introductionmentioning

confidence: 99%

Transcervical retrieval of fetal cells in the practice of modern medicine: a review of the current literature and future direction

Imudia

Kumar

Diamond

et al. 2010

Fertility and Sterility

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Objective-To review published methods for transcervical collection of fetal cells and to assess the potential of this approach for application in prenatal diagnosis.Design-Retrospective analysis of efforts at prenatal diagnosis using trophoblast cells shed into the lower uterine pole that accumulate within the cervical mucus at the level of the internal os.Results-Minimally invasive techniques that include cervical mucus aspiration, cervical swabbing, and cervical or intrauterine lavage can be used to retrieve trophoblast cells during the first trimester for diagnostic purposes, including prenatal genetic analysis. Fetal cells have been identified in these specimens with success rates that vary from 40 to 90%. The disparity in reported success rates can be a function of gestational age, collection method, operator variability, detection sensitivity, or pregnancy status. Molecular approaches have been devised to determine fetal sex and identify aneuploidies. Antibody markers have proven useful to select trophoblast cells for genetic analysis and to demonstrate that the abundance of recoverable fetal cells diminishes in abnormal gestations, such as ectopic pregnancy and blighted ovum.Conclusions-Transcervical collection of fetal cells offers several avenues for prenatal diagnosis that with further refinement could one day provide valuable information for the management of ongoing pregnancies.

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Fetal cells in transcervical samples at an early stage of gestation

Cited by 29 publications

References 21 publications

Detection of ≥1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays

Detection of ≥1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays

Prenatal Diagnosis, Where and How: No Way Out?

Transcervical retrieval of fetal cells in the practice of modern medicine: a review of the current literature and future direction

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