Results 31 to 40 of about 12,620,879 (241)

Challenges and clinical implications of discordant non-invasive prenatal testing results: insights from two case studies [PDF]

Folia Medica
Non-invasive prenatal testing (NIPT) has transformed prenatal screening, offering high sensitivity and specificity in the detection of common fetal aneuploidies.
Slavyana Galeva, Boris Stoilov, Ekaterina Uchikova   +2 more
doaj   +3 more sources

Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis [PDF]

, 2012
BackgroundAnalysis of cell free fetal (cff) DNA in maternal plasma is used routinely for non invasive prenatal diagnosis (NIPD) of fetal sex determination, fetal rhesus D status and some single gene disorders.
Carolyn L. Dent (135429), Oudejans, Cees, White, Helen E., Hall, Victoria J., Chitty, LS, Carolyn L Dent, John A. Crolla (135433), Lyn S. Chitty (135435), Dent, CL, Victoria J. Hall (135431), John A Crolla, White Helen E., Helen E. White (135428), Crolla, John A., Crolla, JA, Hall, VJ, Dent Carolyn L., Hall Victoria J., Chitty, Lyn S., Chitty Lyn S., Helen E White, Dent, Carolyn L., White, HE, Crolla John A., Lyn S Chitty, Victoria J Hall   +25 more
core   +1 more source

The expressivist objection to prenatal testing : the experiences of families living with genetic disease [PDF]

, 2014
The expressivist objection to prenatal testing is acknowledged as a significant critique of prenatal testing practices most commonly advanced by disability rights supporters.
Felicity Kate Boardman, Boardman, Felicity Kate, Boardman, Felicity K.   +2 more
core   +1 more source

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)

Molecular Cytogenetics, 2021
Background Non-invasive prenatal testing (NIPT) is a rapidly developing and widely used method in the prenatal screening. Recently, the widespread use of the NIPT caused a neglecting of the limitations of this technology.
Justyna Domaradzka, Marta Deperas, Ewa Obersztyn, Anna Kucińska-Chahwan, Nathalie Brison, Kris Van Den Bogaert, Tomasz Roszkowski, Marta Kędzior, Magdalena Bartnik-Głaska, Alicja Łuszczek, Krystyna Jakubów-Durska, Joris Robert Vermeesch, Beata Anna Nowakowska   +12 more
doaj   +1 more source

Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population

Medicina, 2022
Background and Objectives: Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, 13, sex chromosomes aneuploidies and several microdeletions. This study aimed to assess the accuracy of cell free
Cristina Gug, Ioana Mozos, Adrian Ratiu, Anca Tudor, Eusebiu Vlad Gorduza, Lavinia Caba, Miruna Gug, Catalina Cojocariu, Cristian Furau, Gheorghe Furau, Monica Adriana Vaida, Dorina Stoicanescu   +11 more
doaj   +1 more source

Decision tree model for non-invasive prenatal testing.

, 2023
Decision tree model for non-invasive prenatal testing.
Wanvisa Udomsinprasert (778569), Jiraphun Jittikoon (9873716), Pattarawalai Talungchit (9566525), Saowalak Turongkaravee (9548643), Usa Chaikledkaew (4909543), Sermsiri Sangroongruangsri (5620268), Preechaya Wongkrajang (740241)   +6 more
core   +1 more source

The Italian guidelines on non-invasive and invasive prenatal diagnosis: Executive summary of recommendations for practice the Italian Society for Obstetrics and Gynecology (SIGO) [PDF]

The Italian guidelines on non-invasive and invasive prenatal diagnosis: Executive summary of recommendations for practice the Italian Society for Obstetrics and Gynecology ...
Elvira Di Pasquo, Working Group on Non-invasive Prenatal Diagnosis, Chiara Formigoni, Marco De Santis, Working Group on Invasive Prenatal Diagnosis, Working Group Secretariat, Tiziana Frusca, Maurizio Guido, Tamara Stampalija, Moira Barbieri, Panel of Experts Delegated by Scientific Societies and Stakeholders, Promoting Committee, External Auditors, Tullio Ghi, Enrico M Ferrazzi, M Morlando, Chair and Methodological Group   +16 more
core   +1 more source

Outcomes following the detection of fetal edema in early pregnancy prior to non‐invasive prenatal testing

, 2021
Objective: To investigate the incidence of structural and chromosomal abnormalities in cases of fetal edema on early ultrasound prior to non-invasive prenatal testing (NIPT).
Jayshree Ramkrishna, Fabricio da Silva Costa, Menezes, M, da Silva Costa, F, Maria J. Maxfield, Kedar Humnabadkar, Ramkrishna, J, Daniel L. Rolnik, Melody Menezes, Meagher, S, Simon Meagher, Tse, C, Cheryl Tse, Humnabadkar, K, Maxfield, MJ, Rolnik, DL   +15 more
core   +1 more source

Analysis of the accuracy of Z-scores of non-invasive prenatal testing for fetal Trisomies 13, 18, and 21 that employs the ion proton semiconductor sequencing platform

Molecular Cytogenetics, 2018
Background Non-invasive prenatal testing (NIPT) is frequently being used to screen for trisomies 13, 18 and 21 for prenatal diagnosis. However, NIPT performs poorly when compared with invasive testing and thus should not be used to diagnose trisomies ...
Yuan Tian, Linlin Zhang, Weifang Tian, Jinshuang Gao, Liting Jia, Shihong Cui   +5 more
doaj   +1 more source

Non invasive prenatal testing for single gene disorders:Exploring the ethics [PDF]

, 2013
Non-invasive prenatal testing for single gene disorders is now clearly on the horizon. This new technology offers obvious clinical benefits such as safe testing early in pregnancy.
Melissa Hill, Hill, Melissa, Zuzana Deans, Lewis, Celine, Celine Lewis, Chitty, Lyn, Lyn S Chitty, Deans, Zuzana   +7 more
core   +1 more source