Results 111 to 120 of about 4,684 (217)

Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing

Prenatal Diagnosis, Volume 46, Issue 3, Page 454-457, March 2026.
Aysegül Klapperich, Vaclava Skopova, Mert Karakaya, Clara Velmans, Christian Netzer, Brigitte Strizek, Lenka Steiner Mrazova, Marie Zikanova   +7 more
wiley   +1 more source

Non-invasiv prenatal test (NIPT) [PDF]

Tidsskrift for Den norske legeforening, 2020
openaire   +2 more sources

Termination of Pregnancy After Non-Invasive Prenatal Testing (NIPT): Ethical Considerations [PDF]

, 2018
This article explores the Nuffield Council on Bioethics' recent report about non-invasive prenatal testing. Given that such testing is likely to become the norm, it is important to question whether there should be some ethical parameters regarding its use.
Shakespeare, T, Hull, R
openaire   +1 more source

Genetic testing in Marfan syndrome [PDF]

, 2016
Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring.
Aragon-Martin, JA, Child, AH, Sage, K
core   +1 more source

Comprehensive Prenatal Genetic Analysis: From Non-Invasive Prenatal Testing to Whole-Exome Sequencing in a High-Risk Pregnancy with Gaucher Disease—A Case Report and Literature Review

Journal of Mind and Medical Sciences
Gaucher disease (GD) is the most common lysosomal storage disorder, with an increased prevalence among Ashkenazi Jews. It is an autosomal recessive metabolic disorder caused by pathogenic variants in the GBA1 gene. In this study, we present the case of a
Ileana-Delia Săbău, Laurențiu-Camil Bohîlțea, Mihaela Țurcan, Adelina Silvana Gheorghe, Maria Riza, Mihai Mitroi, Antoanela Curici, Iuliana Ceaușu   +7 more
doaj   +1 more source

Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome [PDF]

, 2016
INTRODUCTION: Invasive prenatal diagnosis (IPD) has long been used to prenatally diagnose Down syndrome (DS), but is associated with a small risk of miscarriage.
Advani, HV, Barrett, AN, Biswas, A, Chitty, LS, Choolani, M, Hill, M, Su, LL, Tan, WC   +7 more
core  

Cost-effectiveness of prenatal screening and diagnostic strategies for Down syndrome: A microsimulation modeling analysis.

PLoS ONE, 2019
OBJECTIVES:Down syndrome (DS) is the most frequently occurring fetal chromosomal abnormality and different prenatal screening strategies are used for determining risk of DS worldwide.
Wei Zhang, Tima Mohammadi, Julie Sou, Aslam H Anis   +3 more
doaj   +1 more source

Performance of cell free DNA as a screening tool based on the results of first trimester screening

Molecular Cytogenetics
The advent of non-invasive prenatal testing (NIPT) in the screening of fetal abnormalities has optimized prenatal care and decreased the rate of invasive diagnostic tests. In this retrospective descriptive study, we began with 1874 singleton pregnancies.
Mahtab Motevasselian, Mohammad Amin Omrani, Soraya Saleh Gargari, Sarang Younesi, Mohammad Mahdi Taheri Amin, Pourandokht Saadati, Soudabeh Jamali, Mohammad-Hossein Modarresi, Shahram Savad, Majid Rahmani, Saloomeh Amidi, Saeed Delshad, Fariba Navidpour, Samira Chagheri, Yalda Mohammadi, Sheyda Khalilian, Solat Eslami, Soudeh Ghafouri-Fard   +17 more
doaj   +1 more source

Non-invasive Prenatal Testing (NIPT): Better Meet an Expert! [PDF]

Geburtshilfe und Frauenheilkunde, 2016
T. Ohnhaeuser, D. Schmitz
openaire   +1 more source

Regulating in the Global Village: The Case of Non-Invasive Pre-Natal Tests [PDF]

, 2017
In the context of the global village, this paper focuses on the development of Non-Invasive Prenatal Testing (NIPT)—a test that provides clinicians and prospective parents with an easy, early and safe opportunity to obtain potentially reliable genetic ...
Brownsword, Roger, Wale, Jeffrey
core