Results 41 to 50 of about 12,655,449 (158)

Prenatal screening and diagnostic strategies for fetal genetic abnormalities: Comparison of international clinical guidelines

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract This study compares recommendations from international clinical guidelines regarding prenatal screening and diagnostic testing for fetal genetic abnormalities, including the role of non‐invasive prenatal testing (NIPT), invasive diagnostic procedures, and advanced genomic technologies.
Geovanna Saboia Veras, João Renato Bennini   +1 more
wiley   +1 more source

Prospective observations study protocol to investigate cost-effectiveness of various prenatal test strategies after the introduction of noninvasive prenatal testing

BMC Pregnancy and Childbirth, 2018
Background Among the non-invasive screening methods for the identification of fetal aneuploidy, NIPT (non-invasive prenatal testing) shows the highest sensitivity and specificity in high-risk pregnancies. Due to the low false positive rate of NIPT, it is
So Yeon Kim, Seung Mi Lee, Jong Kwan Jun, You Jung Han, Min Hyoung Kim, Jae-Yoon Shim, Mi-Young Lee, Soo-young Oh, JoonHo Lee, Soo Hyun Kim, Dong Hyun Cha, Geum Joon Cho, Han-Sung Kwon, Byoung Jae Kim, Mi Hye Park, Hee Young Cho, Hyun Sun Ko, Jeonghoon Ahn, Hyun Mee Ryu   +18 more
doaj   +1 more source

Non-invasive prenatal testing in mitigating concerns from invasive prenatal diagnostic testing: retrospective assessment of utility in an academic healthcare system in the US

BMJ Open, 2022
Objective Non-invasive prenatal testing (NIPT) is a front-line screening for fatal chromosomal aneuploidy. In pregnant women with a risk of having fetal congenital disorders, NIPT is anticipated to reduce the needs of invasive prenatal diagnostic test ...
Kibum Kim, Linda Kaitlyn Craft
doaj   +1 more source

Hemolytic Disease of the Fetus and Newborn: Fetal RHD Genotyping, Targeted Prophylaxis, and Prenatal Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemolytic disease of the fetus and newborn (HDFN) remains a significant concern in prenatal care primarily caused by maternal alloimmunization against fetal red blood cell antigens, most commonly the D antigen. Noninvasive fetal RHD genotyping, used as a screening tool, enables targeted antenatal prophylaxis and has been implemented in several
Emilie Thorup, Steffen Thorsen, Morten Hanefeld Dziegiel, Olav Bjørn Petersen, Frederik Banch Clausen   +4 more
wiley   +1 more source

Decision-making process about prenatal genetic screening: how deeply do moms-to-be want to know from Non-Invasive Prenatal Testing?

BMC Pregnancy and Childbirth, 2023
Background Prenatal information may be obtained through invasive diagnostic procedures and non-invasive screening procedures. Several psychological factors are involved in the decision to undergo a non-invasive prenatal testing (NIPT) but little is known
Serena Oliveri, Giulia Ongaro, Ilaria Cutica, Giulia Menicucci, Debora Belperio, Francesca Spinella, Gabriella Pravettoni   +6 more
doaj   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

Fetal Brain Abnormalities in Trisomy 21 and Associated Neurodevelopmental Outcome: Key Factors to Identify Differences in Neurodevelopmental Outcome?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Trisomy 21 (T21) is associated with various neurological impairments. However, the mechanisms of fetal brain development in T21 and their impact on neurodevelopmental outcomes remain unclear, limiting prenatal counseling. Therefore, this study aims to assess neuropathological changes in fetuses with T21 and the associated ...
Christina Haberl, Pilar Palmrich, Eva Karner, Patric Kienast, Sarah Glatter, Florian Heinzl, Philipp Moser, Daniela Prayer, Gregor Kasprian, Julia Binder   +9 more
wiley   +1 more source

The role of patient-reported experiences in disclosing genetic prenatal testing: Findings from a large-scale survey on pregnant women

European Journal of Obstetrics & Gynecology and Reproductive Biology: X
Introduction: Pregnant women can choose from different prenatal genetic tests throughout their maternity journey. We aim to investigate the clinical, societal, and economic determinants influencing the selection of different options (non-invasive ...
Amerigo Ferrari, Federico Pennestrì, Manila Bonciani, Giuseppe Banfi, Milena Vainieri, Rossella Tomaiuolo   +5 more
doaj   +1 more source

Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley   +1 more source