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International Journal of General Medicine, 2021 The present study aimed to evaluate and analyze the results of karyotyping by amniocentesis and next generation sequencing (NGS)-based noninvasive prenatal DNA testing (NIPT) for the prenatal diagnosis of fetal chromosomal disorders.A total of 2267 high-risk pregnant females with the indications for prenatal diagnosis who met the enrollment criteria ...
Qi,Qi-Ge +4 more
openaire +6 more sources
Understanding attitudes and behaviors towards cell-free DNA-based noninvasive prenatal testing (NIPT): A survey of European health-care providers [PDF]
, 2019 Cell-free DNA-based noninvasive prenatal testing (cfDNA) is a relatively new screening tool that analyzes cfDNA circulating in maternal plasma to screen for aneuploidies.
Klein, Hanns-Georg +17 more
core +2 more sources
Taiwanese Journal of Obstetrics & Gynecology, 2018 Objective: To present a case with prenatal diagnosis and cytogenetic characterization of 1p36 deletion syndrome whose first trimester combined testing is abnormal but a normal NIPT result.
Chung-Yuan Yang +3 more
doaj +1 more source
Clinical Case Reports, 2019 We report a case of a de novo ring 21 complex chromosomal rearrangement in a fetus presenting with hydrops. Noninvasive prenatal testing (NIPT) failed to detect the imbalance.
Kathleen Bone +3 more
doaj +1 more source
Diagnosis of maternal Hodgkin lymphoma following abnormal findings at noninvasive prenatal screening test (NIPT): Report of two cases [PDF]
Clinical Case Reports, 2021 AbstractAbnormal NIPT results, contrasting with normal fetus development, could disclose maternal malignancy, and this possibility should always be explained during pretest counseling. In this case, a complete diagnostic assessment is recommended and should be managed by a multidisciplinary team to define the best timing for diagnostic procedures ...
Alessia Castellino +17 more
openaire +3 more sources
, 2023 Objective: To examine the extent to which sex chromosomes are included in current noninvasive prenatal testing (NIPT) and the reporting practices with respect to fetal chromosomal sex and sex chromosome aberrations (SCAs), in addition to an update on the
Gadsbøll, Kasper +5 more
core +1 more source
BMC Pregnancy and Childbirth, 2023 Background Noninvasive prenatal testing (NIPT) is increasingly used in the clinical prenatal screening of twin pregnancies, and its screening performance for chromosomal abnormalities requires further evaluation. For twin pregnancies with indications for
Xiying Yuan +6 more
doaj +1 more source
The Emergence and Global Spread of Noninvasive Prenatal Testing [PDF]
, 2021 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.
Newson, Ainsley J +11 more
core +1 more source
A Case of False Negative NIPT for Down Syndrome-Lessons Learned
Case Reports in Genetics, 2014 Down syndrome or trisomy 21 is the most common cause of prenatal chromosome abnormalities with approximately 50% of all reported chromosome conditions. With the successful introduction of noninvasive prenatal testing (NIPT) for Down syndrome into routine
Meagan Smith +3 more
doaj +1 more source
Obstetrician and Gynecologist Utilization of the Noninvasive Prenatal Testing Expanded Option
American Journal of Perinatology Reports, 2016 Objective Noninvasive prenatal testing (NIPT) enables the detection of common fetal aneuploidies such as trisomy 21, trisomy 18, trisomy 13, and sex chromosome abnormalities via analysis of cell-free fetal DNA circulating in maternal serum.
Sarah Mayes +5 more
doaj +1 more source