Results 91 to 100 of about 4,684 (217)

Impact of National Screening Programs on Down syndrome prevalence and outcomes

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 4, Page 613-620, April 2026.
Over the past two decades, pregnancies with DS, prenatal diagnosis, and subsequent terminations have increased. Yet, the proportion continuing pregnancy after diagnosis and the prevalence of live‐ and stillbirths with DS have remained stable throughout the same period.
Cecilie Bryn Nordklev, Denise Reis Costa, Roy Miodini Nilsen, Nils‐Halvdan Morken, Siri Vangen, Vasilis Sitras   +5 more
wiley   +1 more source

Non-invasive prenatal test to screen common trisomies in twin pregnancies

Molecular Cytogenetics, 2020
Objectives Recent years have witnessed a shift from invasive methods of prenatal screening to non-invasive strategies. Accordingly, non-invasive prenatal testing (NIPT) using cell-free fetal DNA in maternal plasma has gained a considerable deal of ...
Mahtab Motevasselian, Soraya Saleh Gargari, Sarang Younesi, Parichehr Pooransari, Pourandokht Saadati, Masoomeh Mirzamoradi, Shahram Savad, Mohammad Mahdi Taheri Amin, Mohammad-Hossein Modarresi, Maryam Afrakhteh, Soudeh Ghafouri-Fard   +10 more
doaj   +1 more source

Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study [PDF]

, 2017
BACKGROUND: The availability of non-invasive prenatal testing (NIPT) for aneuploidies is expanding rapidly throughout the world. Training health professionals to offer NIPT in a way that supports informed choice is essential for implementation.
Chitty, LS, Daley, R, Hill, M, Lewis, C, Oxenford, K   +4 more
core   +2 more sources

NIPTmer : rapid k-mer-based software package for detection of fetal aneuploidies [PDF]

, 2018
Non-invasive prenatal testing (NIPT) is a recent and rapidly evolving method for detecting genetic lesions, such as aneuploidies, of a fetus. However, there is a need for faster and cheaper laboratory and analysis methods to make NIPT more widely ...
Brison, Nathalie, Kaplinski, Lauris, Krjutskov, Kaarel, Kurg, Ants, Palta, Priit, Paluoja, Priit, Peters, Maire, Roost, Anne Mari, Salumets, Andres, Sauk, Martin, Teder, Hindrek, Ustav, Eva-Liina, Vermeesch, Joris R., Zilina, Olga   +13 more
core   +3 more sources

Non-Invasive Prenatal Testing with Next Generation Sequencing Methods in Birth Defect Pregnancy: A Pilot Study

Indonesian Biomedical Journal
BACKGROUND: Identification of cell-free foetal DNA (cffDNA) in maternal blood, combined with next-generation sequencing (NGS) advancement, has paved the way for non-invasive prenatal screening to detect foetal aneuploidies.
Anom Suardika, Anak Agung Ngurah Jaya Kusuma, Ni Gusti Ayu Manik Ermayanti, Endang Sri Widiyanti, I Gusti Ngurah Agung Satria Wibawa, Divika Silvana, Anak Agung Gede Raka Budayasa, Ni Nyoman Ayu Dewi, I Made Jawi, H. Sunny Sun, Yen-An Tang   +10 more
doaj   +1 more source

Decision-making by expectant parents: NIPT, NIPD, and current methods of prenatal screening for Down’s Syndrome (Evidence Review) [PDF]

, 2017
The objective of this review is to examine research exploring the decisions that women and couples make about prenatal screening and testing and the factors that influence their decisions.
Thomas, Gareth
core   +1 more source

Society for Maternal‐Fetal Medicine Consult Series #76: Cancer in pregnancy

Pregnancy, Volume 2, Issue 2, March 2026.
Abstract Approximately one in 1000 pregnancies is complicated by the diagnosis of cancer each year, and the incidence of cancer among reproductive‐age individuals is increasing. Management of a pregnant person with cancer can be complex and warrants a multidisciplinary approach to care.
Society for Maternal‐Fetal Medicine (SMFM), Moti Gulersen, Clarissa Bonanno, Justin S. Brandt, Stephanie Pierce, Elyce H. Cardonick, SMFM Publications Committee   +6 more
wiley   +1 more source

Screening for 22q11.2 deletion syndrome by two non-invasive prenatal testing methodologies: A case with discordant results

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: Non-invasive prenatal testing (NIPT) through the analysis of cell-free DNA in maternal plasma has bee expanded to include clinically-relevant microdeletions such as the 22q11.2 deletion syndrome (22q11.2DS). Case report: We present a pregnancy
Liang-Ming Lo, Chii-Shinn Shiau, Kuang-Chao Chen, S.W.S. Shaw, Peter Benn   +4 more
doaj   +1 more source

Clinically Irrelevant Terminal 16q21 Deletion Detected by NIPT Is Attributable to Inherited Fragility at FRA16B

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 348-352, February 2026.
ABSTRACT Genome‐wide non‐invasive prenatal testing (NIPT) is a powerful tool for prenatal detection of the common aneuploidies causing Down‐, Edwards‐, and Patau syndrome. Its genome‐wide reach also enables the detection of unbalanced structural chromosomal abnormalities.
Servi J. C. Stevens, Wanwisa van Dijk, Nicole Y. Souren, Merryn V. E. Macville, Guillaume van de Zande, Brigitte H. W. Faas, Bart de Koning, Arthur van den Wijngaard, Sonja de Munnik, Masoud Zamani Esteki   +9 more
wiley   +1 more source

A "szabad" nukleinsavak jelentősége a noninvazív diagnosztikában [PDF]

, 2018
K
Csanádi, Zoltán, Nagy, Bálint, Póka, Róbert   +2 more
core   +3 more sources