The Level of Free Fetal DNA as Precise Noninvasive Marker for Chromosomal Aneuploidies: First Results from BALTIC Region

Serapinas, Danielius; Boreikaite, Evelina; Bartkevičiūtė, Agnė; Norvilaitė, Kristina; Narbekovas, Andrius; Bartkevičienė, Daiva

doi:10.3390/medicina56110579

Cited by 7 publications

(4 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Of the total studies included, 8 reported the relationship between fetal gender and the fetal fraction ( 20 – 23 , 28 , 33 , 37 , 40 ) and 3 studies reported that the fetal fraction in female fetuses is significantly higher than in male fetuses ( 20 , 23 , 28 ). However, 5 studies showed there was no significant association between fetal gender and FF ( 21 , 22 , 33 , 37 , 40 ).…”

Section: Resultsmentioning

confidence: 99%

Maternal and Fetal Factors Affecting Cell-Free Fetal DNA (cffDNA) Fraction: A Systematic Review

Zaki-Dizaji,

Shafiee,

Gargari

et al. 2023

JRI

View full text Add to dashboard Cite

Background: Cell-free fetal DNA (cffDNA) is a novel screening method for fetal aneuploidy that facilitated non-invasive prenatal testing (NIPT) through analysis of cffDNA in maternal plasma. However, despite increased sensitivity, it has a number of limitations that may complicate of its results interpretation. Therefore, elucidating factors affecting fetal fraction, as a critical limitation, guides its clinical application. Methods: In this report, systematic search was carried out through PubMed, Web of Science, and Scopus databases until February 11, 2022 by using keywords consist of "noninvasive prenatal screening", "NIPT", "noninvasive prenatal", "cell free DNA" and "fetal fraction". The articles were screened for eligibility criteria before data extraction. Results: A total of 39 eligible studies, most published between 2010 and 2020, were included. Based on the results of studies, a negative correlation between maternal age and BMI/body weight with fetal fraction was found. Furthermore, LDL, cholesterol, triglyceride level, metformin, heparin and enoxaparin therapy, hemoglobin-related hemoglobinopathies, and physical activity showed to have negative associations. Interestingly, it seems the ethnicity of patients from South and East Asia has a correlation with fetal fraction compared to Caucasians. Positive correlation was observed between gestational age, free β-hCG, PAPP-A, living in high altitude, and twin pregnancy. Conclusion: Considering each factor, there was significant inconsistency and controversy regarding their impact on outcomes. Indeed, multiple factors can influence the accuracy of NIPS results, and it is worth noting that the impact of these factors may vary depending on the individual’s ethnic background. Therefore, it is important to recognize that NIPS remains a screening test, and comprehensive pre- and post-NIPS counseling should be conducted as part of standard clinical practice

show abstract

Section: Resultsmentioning

confidence: 99%

Maternal and Fetal Factors Affecting Cell-Free Fetal DNA (cffDNA) Fraction: A Systematic Review

Zaki-Dizaji,

Shafiee,

Gargari

et al. 2023

JRI

View full text Add to dashboard Cite

show abstract

“…We can see that most of them were published in 2021 (13 out of 51 studies), likely due to the relatively young age of the investigation technique. Regarding the reviewed studies, 13 are described in the first section concerning the role of cffDNA in the non-invasive prenatal diagnosis of aneuploidies [ 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 ], 7 are described in the second section (CNV diseases) and the remaining 31 are in the third section concerning diseases with monogenic transmission [ 2 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 ].…”

Section: Resultsmentioning

confidence: 99%

“…This indicates how improved conditional screening protocols could lead to less use of invasive techniques. A 2020 cohort study by Serapinas et al [ 6 ] reported that NIPT (performed by a single nucleotide polymorphism method) achieved a high positive-predictive value (PPV) for both trisomy 21 and 18. Such a finding confirms the possible use of this test as a definitive diagnostic tool, certainly with regard to trisomy 21.…”

Section: Resultsmentioning

confidence: 99%

Cell-Free Fetal DNA and Non-Invasive Prenatal Diagnosis of Chromosomopathies and Pediatric Monogenic Diseases: A Critical Appraisal and Medicolegal Remarks

Gullo

Scaglione

Buzzaccarini

et al. 2022

JPM

View full text Add to dashboard Cite

Cell-free fetal DNA (cffDNA) analysis is a non-invasive prenatal diagnostic test with a fundamental role for the screening of chromosomic or monogenic pathologies of the fetus. Its administration is performed by fetal DNA detection in the mother’s blood from the fourth week of gestation. Given the great interest regarding its validation as a diagnostic tool, the authors have set out to undertake a critical appraisal based on a wide-ranging narrative review of 45 total studies centered around such techniques. Both chromosomopathies and monogenic diseases were taken into account and systematically discussed and elucidated. Not surprisingly, cell-free fetal DNA analysis for screening purposes is already rather well-established. At the same time, considerable interest in its diagnostic value has emerged from this literature review, which recommends the elaboration of appropriate validation studies, as well as a broad discourse, involving all stakeholders, to address the legal and ethical complexities that such techniques entail.

show abstract

“…In comparing the performance of different NIPS platforms for the common trisomies, the SNP-based method has a higher detection rate and lower false positive rate than massively parallel shotgun sequencing [56]. While NIPS is considered to have a high positive predictive value (PPV) for the detection of trisomy 21 or trisomy 18 in singleton pregnancies (99%, 97.7%, respectively) [57], the detection rate for 47,XXY is lower (93%) [58]. Invasive confirmation testing is still recommended to rule out a false positive.…”

Section: Discussionmentioning

confidence: 99%

Live-Born Double Aneuploidy at the Johns Hopkins Cytogenomics Laboratory: Case Report and Review of the Literature

Zou¹,

Murry²

2022

OBM Genet

View full text Add to dashboard Cite

Double aneuploidy is the co-occurrence of aneuploidy of two different chromosomes within the same individual. Genomic imbalance associated with two aneuploidies in humans is associated with early lethality, and observation in live-born humans is rare. In isolation, trisomy of chromosomes 13, 18, 21, X, and Y may be better tolerated, whereas monosomy of X is the only such type of aberration that may be compatible with life. It is hypothesized that two successive malsegregation events must occur in early development to be observed constitutionally. Mechanisms like trisomy rescue or selection against aneuploidies may result in mosaicism and promote subsequent survival in live-born individuals, depending on the chromosomes involved. From the literature, double aneuploidy in the live-born is rare, with (acrocentric) autosomal with gonosomal aneuploidy more common than double autosomal aneuploidy. A retrospective case study of patients who underwent routine postnatal cytogenetic testing at The Johns Hopkins Hospital (JHH) Cytogenomics Laboratory (from its inception in the early 1960s-present) was carried out to identify mosaic and/or non-mosaic forms of double aneuploidy. One case each of non-mosaic [Klinefelter with Edwards Syndrome] and non-mosaic [Klinefelter with Down Syndrome] is identified. No gonosomal and autosomal cases in females nor double autosomal trisomies were identified in live-born individuals at the JHH Cytogenomics Laboratory. Given the advancements in non-invasive prenatal screening for common aneuploidies, the need for diagnostic confirmation studies persists. Providers should be aware of the possibility of early detection of pregnancies bearing double aneuploidy (common or rare) when maternal malignancy is not suspected. Additionally, clinicians should consider the possibility of double aneuploidy in rare situations of atypical or blended phenotypes reminiscent of dual diagnoses. Further work is needed to identify and compile these and even rarer double aneuploidy cases to improve genotype-phenotype correlations.

show abstract

The Level of Free Fetal DNA as Precise Noninvasive Marker for Chromosomal Aneuploidies: First Results from BALTIC Region

Cited by 7 publications

References 33 publications

Maternal and Fetal Factors Affecting Cell-Free Fetal DNA (cffDNA) Fraction: A Systematic Review

Maternal and Fetal Factors Affecting Cell-Free Fetal DNA (cffDNA) Fraction: A Systematic Review

Cell-Free Fetal DNA and Non-Invasive Prenatal Diagnosis of Chromosomopathies and Pediatric Monogenic Diseases: A Critical Appraisal and Medicolegal Remarks

Live-Born Double Aneuploidy at the Johns Hopkins Cytogenomics Laboratory: Case Report and Review of the Literature

Contact Info

Product

Resources

About