Use of the Y Chromosome in Prenatal Sex Determination

Shettles, Landrum B.

doi:10.1038/230052b0

Cited by 94 publications

(37 citation statements)

References 2 publications

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“…Thus, the hypothesis, first advanced by Shettles, in 1971, that trophoblastic cellular elements are shed not only into the uterine vein -as previously shown by Schmorl (1893) -but also into the uterine cavity, and from there to the endocervical canal, has been fully vindicated.…”

Section: Introductionmentioning

confidence: 77%

“…The biological significance of the release of these fetal cells is not known, although it has been suggested that they could "present" fetal antigens to the mother and modulate a state of immunological tolerance (Thomas et al 1959). Shettles (1971) was intrigued by the fate of the cellular elements released during the degeneration of the chorionic villi, and correctly suggested that fetal cells were also shed into the uterine cavity and then into the endocervical canal. The strong invasive property of placental cells has now been repeatedly confirmed.…”

Section: Discussionmentioning

confidence: 99%

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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: Introductionmentioning

confidence: 77%

Section: Discussionmentioning

confidence: 99%

Fetal cells in transcervical samples at an early stage of gestation

Adinolfí

Sherlock

2001

J Hum Genet

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“…Their presence was first reported by Shettles in 1971 using quinacrine mustard fluorescent staining for identification [59,60]. With this discovery, great interest was generated to collect transcervical trophoblastic cells for a safe and noninvasive alternative to invasive methods.…”

Section: Cervical Collection Of Trophoblast Cellsmentioning

confidence: 96%

Cell-free DNA versus intact fetal cells for prenatal genetic diagnostics: what does the future hold?

Wou

Feinberg

Wapner

et al. 2015

Expert Review of Molecular Diagnostics

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Prenatal screening and diagnosis is currently focused on the development of a noninvasive prenatal diagnostic test capable of detecting abnormalities similar to those attainable with an invasive test. One contender is cell-free fetal DNA circulating in maternal plasma and the other is intact fetal cells either from the maternal blood or the cervix. Once adequate fetal DNA is available, laboratory analytic techniques, such as sequencing and microarray, can be applied allowing detection of most cytogenetic and Mendelian fetal disorders. The question is: how close are we to achieving this feat, and what does the future hold?

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“…Following the pioneering study by Shettles [4] who �rst claimed he could accurately predict fetal sex by simply observing the �Y-body �uorescence� on quinacrine-stained mucus samples collected from the cervix, many groups have reported on the successful prediction of fetal sex and prenatal genetic diagnosis using trophoblastic cells from TCC samples. Overall the results of these studies show very different �gures as to the rates of correct sex prediction and genetic diagnosis, and this is probably due to the diverse techniques used both for sample collection and analysis.…”

Section: Introductionmentioning

confidence: 99%

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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Use of the Y Chromosome in Prenatal Sex Determination

Cited by 94 publications

References 2 publications

Fetal cells in transcervical samples at an early stage of gestation

Fetal cells in transcervical samples at an early stage of gestation

Cell-free DNA versus intact fetal cells for prenatal genetic diagnostics: what does the future hold?

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

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