scholarly journals Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA

2019 ◽  
Vol 22 (2) ◽  
pp. 309-316 ◽  
Author(s):  
Francesca Romana Grati ◽  
Jose Ferreira ◽  
Peter Benn ◽  
Claudia Izzi ◽  
Federica Verdi ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Cell Free Dna ◽  
Free Dna ◽  
Placental Mosaicism

Outcomes in Pregnancies With a Confined Placental Mosaicism and Implications for Prenatal Screening Using Cell-Free DNA

2020 ◽  
Vol 75 (7) ◽  
pp. 397-398
Author(s):  
Francesca Romana Grati ◽  
Jose Ferreira ◽  
Peter Benn ◽  
Claudia Izzi ◽  
Federica Verdi ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Cell Free Dna ◽  
Free Dna ◽  
Placental Mosaicism

scholarly journals Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome

2018 ◽  
Vol 26 (10) ◽  
pp. 1490-1496 ◽  
Author(s):  
Karin Huijsdens-van Amsterdam ◽  
Lieve Page-Christiaens ◽  
Nicola Flowers ◽  
Michael D Bonifacio ◽  
Katie M Battese Ellis ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Prenatal Screening ◽  
False Negative ◽  
Cell Free Dna ◽  
Free Dna ◽  
Negative Cell

Prenatal Screening

2018 ◽  
Author(s):  
Amber Mathiesen ◽  
Kali Roy
Keyword(s):  
Test Performance ◽  
Predictive Value ◽  
Prenatal Screening ◽  
Maternal Serum ◽  
Dna Testing ◽  
Maternal Serum Screening ◽  
Cell Free Dna ◽  
Free Dna ◽  
Serum Screening

This chapter provides information about a genetic counselor’s role in prenatal screening, including discussing and offering options to a patient, interpreting and providing results, or managing referrals based on abnormal results. It discusses how a screen is evaluated using sensitivity, specificity, positive predictive value, negative predictive value, and personal utility. It provides a detailed description of both maternal serum screening and cell-free DNA testing. The maternal serum screening discussion includes information on multiples of median, calculating risk, timing, pattern association, limitations, and follow-up. The review of cell-free DNA testing includes fetal fraction, methodology, test performance, limitations and considerations for testing, and follow-up. This chapter also provides a list of additional resources to use for cell-free DNA testing.

scholarly journals False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Yang Cao ◽  
Nicole L. Hoppman ◽  
Sarah E. Kerr ◽  
Christopher A. Sattler ◽  
Kristi S. Borowski ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
False Negative ◽  
Chromosome Abnormalities ◽  
Trisomy 13 ◽  
Cell Free Dna ◽  
Free Dna ◽  
Negative Cell ◽  
Cell Free Fetal Dna ◽  
Cfdna Screening ◽  
Screening Result

Background.Noninvasive prenatal screening (NIPS) is revolutionizing prenatal screening as a result of its increased sensitivity, specificity. NIPS analyzes cell-free fetal DNA (cffDNA) circulating in maternal plasma to detect fetal chromosome abnormalities. However, cffDNA originates from apoptotic placental trophoblast; therefore cffDNA is not always representative of the fetus. Although the published data for NIPS testing states that the current technique ensures high sensitivity and specificity for aneuploidy detection, false positives are possible due to isolated placental mosaicism, vanishing twin or cotwin demise, and maternal chromosome abnormalities or malignancy.Results.We report a case of false negative cell-free DNA (cfDNA) screening due to fetoplacental mosaicism. An infant male with negative cfDNA screening result was born with multiple congenital abnormalities. Postnatal chromosome and FISH studies on a blood specimen revealed trisomy 13 in 20/20 metaphases and 100% interphase nuclei, respectively. FISH analysis on tissues collected after delivery revealed extraembryonic mosaicism.Conclusions.Extraembryonic tissue mosaicism is likely responsible for the false negative cfDNA screening result. This case illustrates that a negative result does not rule out the possibility of a fetus affected with a trisomy, as cffDNA is derived from the placenta and therefore may not accurately represent the fetal genetic information.

scholarly journals At Preeclampsia Diagnosis, Total Cell‐Free DNA Concentration is Elevated and Correlates With Disease Severity

2021 ◽  
Author(s):  
Teodora R. Kolarova ◽  
Hilary S. Gammill ◽  
J. Lee Nelson ◽  
Christina M. Lockwood ◽  
Raj Shree
Keyword(s):  
Blood Pressure ◽  
Systolic Blood Pressure ◽  
Disease Severity ◽  
Gestational Age ◽  
Prenatal Screening ◽  
Tissue Injury ◽  
Screening Assay ◽  
Cell Free Dna ◽  
Free Dna ◽  
Gestational Age At Delivery

Background Placental derived cell‐free DNA (cfDNA), widely utilized for prenatal screening, may serve as a biomarker for preeclampsia. To determine whether cfDNA parameters are altered in preeclampsia, we conducted a case‐control study using prospectively collected maternal plasma (n=20 preeclampsia, n=22 normal) using our in‐house validated prenatal screening assay. Methods and Results Isolated cfDNA was quantified, sequenced using Illumina NextSeq 500, and the placental‐derived fraction was determined. Clinical and test characteristics were compared between preeclampsia and controls, followed by comparisons within the preeclampsia cohort dichotomized by cfDNA concentration. Lastly, cfDNA parameters in preeclampsia were correlated with markers of disease severity. Maternal age, body mass index, gestational age at delivery, cesarean rate, and neonatal birthweight were expectedly different between groups ( P ≤0.05). The placental‐derived cfDNA fraction did not differ between groups (21.4% versus 16.9%, P =0.06); however, total cfDNA was more than 10 times higher in preeclampsia (1235 versus 106.5 pg/µL, P <0.001). This relationship persisted when controlling for important confounders (OR 1.22, 95% CI 1.04–1.43, P =0.01). The dichotomized preeclampsia group with the highest cfDNA concentration delivered earlier (33.2 versus 36.6 weeks, P =0.02) and had lower placental‐derived fractions (9.1% versus 21.4%, P =0.04). Among preeclampsia cases, higher total cfDNA correlated with earlier gestational age at delivery ( P =0.01) and higher maximum systolic blood pressure ( P =0.04). Conclusions At diagnosis, total cfDNA is notably higher in preeclampsia, whereas the placental derived fraction remains similar to healthy pregnancies. In preeclampsia, higher total cfDNA correlates with earlier gestational age at delivery and higher systolic blood pressure. These findings may indicate increased release of cfDNA from maternal tissue injury.

scholarly journals OC11.04: Cell‐free DNA testing in prenatal screening of chromosomal microdeletions and microduplications: review of the literature

2020 ◽  
Vol 56 (S1) ◽  
pp. 32-32
Author(s):  
A. Familiari ◽  
B. Ischia ◽  
V. Accurti ◽  
I. Fabietti ◽  
S. Boito ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Review Of The Literature ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna

scholarly journals Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA)

2016 ◽  
Vol 36 (5) ◽  
pp. 456-462 ◽  
Author(s):  
Lori J. Dobson ◽  
Emily S. Reiff ◽  
Sarah E. Little ◽  
Louise Wilkins-Haug ◽  
Bryann Bromley
Keyword(s):  
Clinical Outcomes ◽  
Prenatal Screening ◽  
Patient Choice ◽  
Cell Free Dna ◽  
Noninvasive Prenatal Screening ◽  
Free Dna

scholarly journals Noninvasive prenatal testing for aneuploidy using cell-free DNA – New implications for maternal health

2016 ◽  
Vol 9 (4) ◽  
pp. 148-152 ◽  
Author(s):  
Lisa Hui
Keyword(s):  
Maternal Health ◽  
Prenatal Screening ◽  
Clinical Pathways ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Low Molecular Weight ◽  
Noninvasive Prenatal Testing ◽  
Cell Free Dna ◽  
Free Dna ◽  
Voluntary Testing

The rapid global uptake of noninvasive prenatal testing for Down syndrome based on maternal plasma cell-free DNA has provided new data on the interrelationship between cell-free DNA and maternal health. Specific maternal conditions that can affect the performance of noninvasive prenatal testing include obesity, active autoimmune disease and low molecular weight heparin treatment. There is also a growing appreciation of the implications of discordant noninvasive prenatal testing results for maternal health, including unexpected diagnoses of maternal chromosomal conditions, or rarely, occult cancer. The interrelatedness of noninvasive prenatal testing and maternal health mean that the longstanding principles underpinning prenatal screening – voluntary testing, informed decision making, availability of specialist genetic counselling and well-defined clinical pathways – are more important than ever before.

Sign in / Sign up

Export Citation Format

Share Document