Noninvasive Prenatal Paternity Testing (NIPAT) through Maternal Plasma DNA Sequencing: A Pilot Study. [PDF]
Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) have been already used to perform noninvasive prenatal paternity testing from maternal plasma DNA.
Haojun Jiang +10 more
doaj +1 more source
Non-invasive prenatal testing (NIPT): is routinization problematic?
Background The introduction and wide application of non-invasive prenatal testing (NIPT) has triggered further evolution of routines in the practice of prenatal diagnosis.
Christoph Rehmann-Sutter +2 more
doaj +1 more source
Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA. [PDF]
Here, we aimed to validate a noninvasive method using capture sequencing for prenatal diagnosis of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency (21-OHD).
Asan +16 more
core +2 more sources
The Emergence and Global Spread of Noninvasive Prenatal Testing.
Since its introduction in 2011, noninvasive prenatal testing (NIPT) has spread rapidly around the world. It carries numerous benefits but also raises challenges, often related to sociocultural, legal, and economic contexts.
V. Ravitsky +7 more
semanticscholar +1 more source
Complete Androgen Insensitivity Syndrome: A Rare Case of Prenatal Diagnosis
With the widespread uptake of noninvasive prenatal testing (NIPT), a larger cohort of women has access to fetal chromosomal sex, which increases the potential to identify prenatal sex discordance. The prenatal diagnosis of androgen insensitivity syndrome
Maria Liz Coelho +6 more
doaj +1 more source
Prenatal ultrasound screening for fetal anomalies and outcomes in high-risk pregnancies due to maternal HIV infection : a retrospective study [PDF]
Objective: To assess the prevalence of prenatal screening and of adverse outcome in high-risk pregnancies due to maternal HIV infection. Study design: The prevalence of prenatal screening in 330 pregnancies of HIV-positive women attending the ...
Buxmann, Horst +6 more
core +2 more sources
Noninvasive prenatal testing from cell-free DNA [PDF]
For references, please see Appendix 1, available at [www.cmaj.ca/lookup/suppl/doi:10.1503/cmaj.131551/-/DC1][1] The test analyzes fragments of DNA derived from the placenta circulating in maternal blood.
Christine M, Armour, Sarah M, Nikkel
openaire +2 more sources
Noninvasive prenatal testing: limitations and unanswered questions [PDF]
The clinical use of noninvasive prenatal testing to screen high-risk patients for fetal aneuploidy is becoming increasingly common. Initial studies have demonstrated high sensitivity and specificity, and there is hope that these tests will result in a reduction of invasive diagnostic procedures as well as their associated risks.
Monica A, Lutgendorf +3 more
openaire +2 more sources
Background: Rolling-circle replication (RCR) is a novel technology that has not been applied to cell-free DNA (cfDNA) testing until recently. Given the cost and simplicity advantages of this technology compared to other platforms currently used in cfDNA ...
Uzay Gormus +11 more
doaj +1 more source
Development of a comprehensive noninvasive prenatal test [PDF]
Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without parental genotype information.
Malcher, Carolina +15 more
openaire +6 more sources

