Results 51 to 60 of about 2,707,119 (197)

Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports

open access: yesMolecular Cytogenetics, 2021
Background Trisomy 16 (T16) is thought to be the most frequent chromosome abnormality at conception, which is often associated with a high risk of abnormal outcomes.
Haishan Peng   +5 more
doaj   +1 more source

Noninvasive Prenatal Testing in Modern Day Pregnancy Care. [PDF]

open access: yes, 2022
BACKGROUND Literature review of noninvasive prenatal testing in modern-day pregnancy care for collecting information about methods, limitations and benefits of this technique.
Momeni, Kiana Marie,
core  

Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping

open access: yesGenome Medicine, 2021
Background Noninvasive prenatal testing (NIPT) of recessive monogenic diseases depends heavily on knowing the correct parental haplotypes. However, the currently used family-based haplotyping method requires pedigrees, and molecular haplotyping is highly
Chao Chen   +22 more
doaj   +1 more source

What are women saying about noninvasive prenatal testing? An analysis of online pregnancy discussion forums

open access: yes, 2019
OBJECTIVE:The aim of this study was to explore what women are saying about noninvasive prenatal testing (NIPT) in online discussion forums. METHODS:Inductive thematic analysis of content from 13 open-access discussion forums written in English from 11 ...
Rebecca E.S. Crabbe   +5 more
core   +1 more source

Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies

open access: yesFrontiers in Genetics, 2022
Objectives: The study aimed to investigate the clinical use of noninvasive prenatal testing (NIPT) for common fetal aneuploidies as a prenatal screening tool for the detection of rare chromosomal abnormalities (RCAs).Methods: Gravidas with positive NIPT ...
Ting Hu   +34 more
doaj   +1 more source

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

open access: yesPrenatal 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   +4 more
wiley   +1 more source

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

open access: yesPrenatal 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   +15 more
wiley   +1 more source

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

open access: yesPrenatal 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   +9 more
wiley   +1 more source

P3-67 Patient and professional experiences with non-invasive prenatal diagnosis (NIPD) and testing (NIPT): social and ethical issues raised

open access: yes, 2015
Objectives: The aim of this study is to gain a rich understanding of early experiences with emerging non-invasive prenatal diagnosis (NIPD) and non-invasive prenatal testing (NIPT) testing technologies.
Strange, Heather
core   +1 more source

Coexistence of Suspected Tetralogy of Fallot With Absent Pulmonary Valve and Dextrocardia in Pre‐Gestational Diabetes Mellitus: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Early fetal echocardiography and serial surveillance are crucial in pregnancies complicated by pregestational diabetes. Tetralogy of Fallot with absent pulmonary valve syndrome may cause progressive cardiomegaly, ventricular hypertrophy, hydrops, and fetal demise.
Alireza Golbabaei   +2 more
wiley   +1 more source

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