Circulating cell free DNA testing: are some test failures informative?

Palomaki, Glenn E.; Kloza, Edward M.; Lambert-Messerlian, Geralyn; Boom, Dirk van den; Ehrich, Mathias; Deciu, Cosmin; Bombard, Allan T.; Haddow, James E.

doi:10.1002/pd.4541

Cited by 85 publications

(92 citation statements)

References 27 publications

(49 reference statements)

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“…Patau (Trizomi 13) ve Turner (Monozomi X) sendromlu fetüs-larda ise öploidlere yakın olmakla birlikte daha düşük cffDNA oranları saptanmıştır. 16,17 Sadece bu özellik bile, ilerleyen kısımlarda bahsedilecek olan cffDNA testinin Down sendromu vakalarındaki yüksek belirleyicilik oranını açıklamaya yardımcı olabilmektedir. Klinik açıdan bakıldığında ise herhangi bir ek risk faktörü bulunmayan (obezite, uygun olmayan örnek alımı ve erken gebelik haftası vb.)…”

Section: Serbest Fetal Dnaunclassified

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Cell-Free Fetal DNA in Prenatal Screening

Katlan¹,

Söylemez²

2017

Turkiye Klinikleri J Gynecol Obst

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Section: Serbest Fetal Dnaunclassified

“…ve bu durumun test sonuçsuzluğuna yol açabileceği akılda tutulmalıdır. 17 Test tekrarının maliyeti de düşünüldüğünde, sonuçsuzluk hâllerinde invaziv prenatal tanı işlem-lerinin tercih edilmesi başka bir seçenek olarak ortaya çıkmakta ve uygulanmaktadır.…”

Section: Genetik Test Metodu Cffdna Testi Ticari Adıunclassified

Cell-Free Fetal DNA in Prenatal Screening

Katlan¹,

Söylemez²

2017

Turkiye Klinikleri J Gynecol Obst

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“…For example, low-level germline or acquired mosaicism for monosomy X has been well described 78, 79 . Depending on which platform is used, <1 to 5% of the tests may fail, which has also been found to be associated with a higher risk for fetal aneuploidy 80 . One cause of this could be low fetal fraction (i.e.…”

Section: How Cell-free Fetal Dna Analysis Has Changed the Approach Tomentioning

confidence: 99%

Recent advances in prenatal genetic screening and testing

Veyver

2016

F1000Res

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The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively. All of these options have benefits and limitations, and genetic counseling has become increasingly complex for providers who are responsible for guiding patients in their decisions about screening and testing before and during pregnancy.

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“…It is well known that the fetal fraction, i.e., the cffDNA subfraction from the total maternal and fetal cfDNA in the plasma, correlates with test success and interpretation reliability (1 ). The cffDNA represents on average 6%-10% of the total cfDNA in first-and second-trimester pregnancies, and increases to 10%-20% in third-trimester pregnancies (2,3 ).…”

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confidence: 99%

Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination

Mersy

Faas

Spierts³

et al. 2015

Clinical Chemistry

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BACKGROUND Noninvasive genetic tests that use cell-free fetal DNA (cffDNA) are used increasingly in prenatal care. A low amount of cffDNA can have detrimental effects on the reliability of these tests. A marker to confirm the presence of fetal nucleic acids is therefore required that is universally applicable and easy to incorporate. METHODS We developed a novel multiplex, single-tube, noninvasive fetal sex determination assay by combining amplification of AMELY cffDNA with one-step reverse transcription (RT)-PCR of trophoblast-derived cell-free RNA (cfRNA), which functions as a sex-independent fetoplacental marker. We tested plasma samples from 75 pregnant women in duplicate in a blinded fashion. The fetus was considered to be male in the case of a positive result for AMELY and cfRNA amplification in both RT-PCRs. The fetus was considered to be female in the case of negative AMELY and positive cfRNA result in both RT-PCRs. In other cases, the test was repeated. We compared the results with invasive prenatal testing and pregnancy outcomes. RESULTS The AMELY cffDNA amplification and cfRNA result was unambiguous and identical in duplicate in 71 of 75 plasma samples (95%). Four samples (5%) required an extra replicate because of an absent fetoplacental marker. Thereafter, fetal sex was correctly determined in all 75 plasma samples. CONCLUSIONS Amplification of trophoblast-derived cfRNA is a reliable marker for the confirmation of the presence of fetoplacentally derived nucleic acids in noninvasive fetal sex determination.

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Circulating cell free DNA testing: are some test failures informative?

Cited by 85 publications

References 27 publications

Cell-Free Fetal DNA in Prenatal Screening

Cell-Free Fetal DNA in Prenatal Screening

Recent advances in prenatal genetic screening and testing

Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination

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