Results 121 to 130 of about 195,583 (261)

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

‘Screening should not be based on ability to pay’: Australian healthcare providers' and consumers' perspectives on public funding for non‐invasive prenatal testing

Australian and New Zealand Journal of Obstetrics and Gynaecology, EarlyView.
Background Non‐invasive prenatal testing (NIPT) does not receive any Medicare rebate. This study investigated the views of Australian healthcare providers and consumers on public funding of NIPT. Materials and methods Two anonymous online, cross‐sectional surveys were conducted from September 2022 to January 2023.
Cecilia Pynaker, Molly Johnston, Catherine Mills, Katie Vasey, Michelle Taylor‐Sands, Hilary Bowman‐Smart, Lisa Hui   +6 more
wiley   +1 more source

A two-year experience of non-invasive prenatal testing (NIPT) at an urban tertiary medical center in South Korea

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: To report our experience of implementing non-invasive prenatal testing (NIPT) in a tertiary urban academic medical center in South Korea.
Joseph J. Noh, Hyun Mee Ryu, Soo-young Oh, Suk-Joo Choi, Cheong-Rae Roh, Jong-Hwa Kim   +5 more
doaj  

Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

Clinical Case Reports, 2019
We report a new case of 46,XX male syndrome that was detected following an anomalous result by non‐invasive prenatal testing (NIPT) and a discrepancy between the fetal karyotype and the ultrasonographic investigation.
Luigia De Falco, Giovanni Savarese, Teresa Suero, Sonia Amabile, Raffaella Ruggiero, Pasquale Savarese, Antonio Fico   +6 more
doaj   +1 more source

Women's choices in non-invasive prenatal testing for aneuploidy screening: results from a single centre prior to introduction in England [PDF]

, 2020
OBJECTIVE: To evaluate patient choices and uptake of non-invasive prenatal testing (NIPT) for aneuploidy screening offered in a contingency model as part of routine care.
Hewitt, H, Pandya, P, Sacco, A
core  

Abnormal plasma DNA profiles in early ovarian cancer using a non-invasive prenatal testing platform: Implications for cancer screening [PDF]

, 2016
Background: Non-invasive prenatal testing (NIPT) identifies fetal aneuploidy by sequencing cell-free DNA in the maternal plasma. Pre-symptomatic maternal malignancies have been incidentally detected during NIPT based on abnormal genomic profiles.
Cohen, P, Flowers, N, Hannan, N, Hui, L, Pertile, M, Tong, S   +5 more
core   +2 more sources

Non-invasive prenatal testing: what an obstetrician needs to know [PDF]

, 2020
No field in obstetrics has seen such fast advancement, as the field of prenatal screening and diagnosis. A wide variety of tests are available today, and this at times becomes confusing both for the patient and the treating doctor that which screening ...
Mangla, Mishu
core   +2 more sources

Public Perspectives Around Prenatal Screening of Chromosomal Abnormalities: A Focus Group Study Comparing Metropolitan and Rural/Regional Areas in Australia

Australian and New Zealand Journal of Obstetrics and Gynaecology, EarlyView.
ABSTRACT Background The widespread and rapid adoption of private payments for non‐invasive prenatal testing (NIPT) in Australia has introduced complexities to the decision‐making process for the public regarding prenatal screening. NIPT has the potential to be a useful screening tool, but concerns have been raised about its cost, the psychological ...
Amber Salisbury, Hovea Winston, Alexis Johnson, Alison Pearce, Kirsten Howard, Sarah Norris   +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

Is intermediate risk really intermediate? Comparison of karyotype and non‐invasive prenatal testing results of pregnancies at intermediate risk of trisomy 21 on maternal serum screening

Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.
Abstract The purpose of this study was to assess the additional contribution of karyotyping compared with genome‐wide non‐invasive prenatal testing (NIPT) for pregnancies at intermediate risk for trisomy 21 (T21), calculated using the maternal serum screening without major structural anomalies detected through sonography.
Gul Alkan Bulbul, Emine Kirtis, Hulya Kandemir, Cem Yasar Sanhal, Sezin Yakut Uzuner, Sibel Berker Karauzum, Ibrahim Inanc Mendilcioglu   +6 more
wiley   +1 more source