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Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies.
PLoS One
January 2025
Henan Key Laboratory of Fertility Protection and Aristogenesis, Luohe Central Hospital, Luohe, Henan Province, People's Republic of China.
Purpose: To evaluate the clinical performance of expanded non-invasive prenatal testing (NIPT-plus) and compare its effectiveness in screening for chromosomal aneuploidies with that of NIPT.
Methods: Screening results, confirmatory invasive testing results, and follow-up data from pregnant women who underwent either NIPT (6792 cases) or NIPT-Plus (5237 cases) testing at Luohe Central Hospital, China, from January 2019 to June 2023 were collected. The positive predictive value (PPV), sensitivity, specificity, and other indicators for different types of chromosomal abnormalities in NIPT/NIPT-plus screening were calculated.
Analysis of fetal fraction in non-invasive prenatal testing with low-depth whole genome sequencing.
Heliyon
January 2025
Molecular Diagnosis Center, Affiliated Qingyuan Hospital, Guangzhou Medical University (Qingyuan People's Hospital), 511518, Qingyuan, China.
Background: The fetal fraction (FF) is a critical factor influencing the performance of non-invasive prenatal testing (NIPT). Different NIPT methods and sequencing depths can lead to distinct minimum FF thresholds for Trisomy 21 (T21). This study aims to analyze the minimum FF thresholds for detecting T21 in PCR-free NIPT using a low-depth whole genome sequencing method.
View Article and Find Full Text PDFIncidental Diagnosis of Occult Maternal Malignancy With Routine Noninvasive Prenatal Testing During Pregnancy.
Cureus
December 2024
Maternal Fetal Medicine, Michigan State University College of Human Medicine/Corewell Health, Grand Rapids, USA.
The noninvasive prenatal test (NIPT) for genetic screening has been adopted globally as an alternative to first-trimester and quad screening due to its high sensitivity and specificity. NIPT involves detecting and processing foreign fetal DNA in maternal circulation to screen for fetal aneuploidy. An incidental consequence of this process is the detection of foreign tumor cell DNA in maternal circulation in otherwise asymptomatic patients.
View Article and Find Full Text PDFNo microorganism was detected in amniotic fluid of healthy pregnancies from the second trimester to the delivery.
Microbiome
January 2025
Department of Obstetrics and Gynecology, Peking University First Hospital, Beijing, China.
Background: The early colonization and establishment of the microbiome in newborns is a crucial step in the development of the immune system and host metabolism. However, the exact timing of initial microbial colonization remains a subject of ongoing debate. While numerous studies have attempted to determine the presence or absence of intrauterine bacteria, the majority of them have drawn conclusions based on sequencing data from maternal or infant samples taken at a single time point.
View Article and Find Full Text PDFPrenatal Diagnosis of Congenital Heart Disease in Liveborn Infants in the New England Region.
Pediatr Cardiol
January 2025
Division of Pediatric Cardiology, Department of Pediatrics, Hasbro Children's Hospital, The Warren Alpert Medical School at Brown University, Providence, RI, USA.
Prenatal diagnosis of congenital heart disease requiring early cardiac catheterization or surgical intervention enables optimal delivery planning for appropriate postnatal cardiovascular intervention and care. This allows for improved morbidity and mortality. Prior national data reported prenatal diagnosis rates of 32% for congenital heart disease requiring intervention in infants in the first 6 months of life in the New England region.
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