Results 81 to 90 of about 10,428 (253)
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
Scientific ReportsTo evaluate the value of increasing sequencing depths of non-invasive prenatal testing (NIPT) for fetal chromosomal aneuploidies based on the semiconductor sequencing platform.
Dongmei Wang +5 more
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Introduction Congenital anomalies and genetic disorders contribute substantially to perinatal morbidity and mortality, particularly in low‐ and middle‐income countries. Prenatal healthcare providers play a key role in identifying affected pregnancies and referring to patients for genetic counselling; however, referral practices remain ...
Megan Duvenhage +2 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal cfDNA screening has transformed care, yet it remains difficult to determine whether X aneuploidy signals originate from the patient or fetus, inflating screen positive and false positive rates. One potential solution is to incorporate fragment size data from paired‐end sequencing (PES).
Susan Hancock +4 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Southeast Asian (SEA) countries face persistent challenges in equitable healthcare delivery. Given the high prevalence of aneuploidy, increasing use of advanced prenatal screening technologies, and challenges reported in other regions, this study aimed to identify and assess existing policies and guidelines as well as the enablers and barriers
Rapphon Sawaddisan +3 more
wiley +1 more source
Prenatal detection and outcome of major heart defects in a country with universal screening
Ultrasound in Obstetrics &Gynecology, EarlyView.ABSTRACT Objective To evaluate the Danish prenatal screening program for major fetal congenital heart defects (mCHD), focusing on incidence, detection rates (DRs), pregnancy outcomes and postnatal mortality. Methods This was a 5‐year nationwide cohort study conducted from January 2018 to December 2022 in Denmark.
C. Vedel +15 more
wiley +1 more source
How to facilitate ultrasound examination of the fetal heart: the 5‐4‐3‐2‐1 method
Ultrasound in Obstetrics &Gynecology, EarlyView.ABSTRACT We propose a new standardized, systematic method of fetal cardiac screening, the step‐by‐step ‘5‐4‐3‐2‐1’ method. This method is based on understanding the cardiac structures through a process of navigating between the different recommended views during an abdominothoracic sweep, following a user‐friendly checklist to identify the main ...
M. Levy, B. Stos
wiley +1 more source
Validation of QF-PCR for prenatal diagnoses in a Brazilian population
ClinicsOBJECTIVES: Quantitative fluorescence polymerase chain reaction (QF-PCR) is a rapid and reliable method for screening aneuploidies, but in Brazil, it is not used in public services.
Renata Wendel de Moraes +6 more
doaj +1 more source