First-trimester sonographic assessment of the risk of chromosomal abnormalities is routinely performed throughout the world, primarily by measuring fetal nuchal translucency thickness between 11-13 weeks' gestation, combined with assessment of serum markers. The development of high-frequency transvaginal transducers has led to improved ultrasound resolution and better visualization of fetal anatomy during the first-trimester. Continuous improvement in ultrasound technology allows a thorough detailed assessment of fetal anatomy at the time of the nuchal translucency study. Using transabdominal or transvaginal sonography, or a combination of both approaches, it is now possible to diagnose a wide range of fetal anomalies during the first trimester. Multiple studies reported early diagnosis of major fetal anomalies after demonstrating the association of increased nuchal translucency thickness with structural defect in chromosomally normal and abnormal fetuses. Normal sonographic findings provide reassurance for women at high risk while detection of fetal malformation during the first trimester enables discussion and decisions about possible treatments and interventions, including termination of pregnancy, during an early stage of pregnancy.
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http://dx.doi.org/10.3390/jcm3030986 | DOI Listing |
Arch Gynecol Obstet
January 2025
Department of Obstetrics and Gynaecology, University Hospital Tübingen, University of Tübingen, Calwerstrasse 7, 72076, Tübingen, Germany.
Objective: To examine the impact of a new image enhancement technique on the distribution of NT measurements.
Methods: In this retrospective study, nuchal translucency (NT) images that were taken with the GE Voluson E22 ultrasound machine between May and September 2024 were collected. One operator took manual and automated NT measurements in an NT image without radiant enhancement mode followed by automated measurements in NT images with minimum, medium and maximum radiant mode.
J Clin Med
January 2025
Third Department of Obstetrics and Gynaecology, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece.
Smoking has adverse effects on both maternal and fetal health and its incidence varies among different countries. The aim of this study was to identify the prevalence of smoking during pregnancy and to identify factors associated with smoking. This was a retrospective study conducted at the Third Department of Obstetrics and Gynecology, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Greece, during an 11-year period (2013-2023).
View Article and Find Full Text PDFBr J Hosp Med (Lond)
December 2024
Department of Obstetrics and Gynecology, Rizhao People's Hospital, Rizhao, Shandong, China.
Prenatal diagnosis is a crucial tool in reducing birth defects. Research indicates that whole-exome sequencing (WES) is particularly effective for detecting abnormalities associated with structural ultrasound findings. This study aimed to evaluate the utility of WES in the genetic diagnosis of prenatal ultrasound abnormalities.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
January 2025
Genetic Program, North York General Hospital, Toronto, ON, Canada.
Background: Preeclampsia significantly impacts maternal and perinatal health. Early screening using advanced models and primary prevention with low-dose acetylsalicylic acid for high-risk populations is crucial to reduce the disease's incidence. This study assesses the feasibility of implementing preterm preeclampsia screening and prevention by leveraging information from our current aneuploidy screening program in a real-world setting with geographic separation clinical site and laboratory analysis site.
View Article and Find Full Text PDFPrenat Diagn
January 2025
Discipline of Women's Health, University of New South Wales, Randwick, Australia.
Introduction: Genome-wide non-invasive prenatal testing (gwNIPT) has screening limitations for detectable genetic conditions and cannot detect microdeletions/microduplications (MD) or triploidy. Nuchal translucency (NT) increases with gestation and with genetic or structural abnormalities. This study aims to determine the utility of NT measurement in detecting genetic abnormalities not identified by gwNIPT and the optimal NT threshold value.
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