Aim: The aim of this work was to assess the risk of early fetal loss (first trimester of pregnancy, 8-13 weeks of gestation) using the results of first-trimester screening (FTS) biochemical markers independently and combined.
Methods: FTS results of 152 women who suffered early fetal loss were compared to a control group of 150 women with normal pregnancy outcomes. FTS biochemical markers were measured with a Delfia Xpress 6000 analyzer and biochemical risks for Down's and Edward's syndromes were calculated using Prenatal-Lifecycle version 3.0 software. Marker levels were standardized by calculating the gestational-specific multiple of the medians (MoM), further adjusted by maternal age, maternal weight, cigarette consumption and pre-existing type 1 diabetes mellitus. Receiver-operator curves were built to evaluate each marker and its combination.
Results: Our results show that values of biochemical risk of t21 of more than 1 in 310 have a poor sensitivity to predict early fetal loss (31.4%) with a positive predictive value (PPV) for fetal loss of 67.7%. Values of pregnancy-associated plasma protein A (PAPP-A) MoM of less than 0.48 show a sensitivity of 62.1% and a PPV of 84.5% for early fetal loss; whereas for free β-human chorionic gonadotropin, values of MoM of less than 0.44 have a sensitivity of 66.4% with a PPV of 85.3%. A novel algorithm, consisting in the multiplication of both markers, shows for values of less than 0.48 a sensitivity of 83.1%, a specificity of 78.7% and a PPV of 77.1%.
Conclusion: Combined analysis of PAPP-A and free β-hCG appears to be a potential candidate to predict early fetal loss.
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http://dx.doi.org/10.1111/jog.12490 | DOI Listing |
BMC Pregnancy Childbirth
January 2025
Department of Women's and Children's Health, Uppsala University, Uppsala, 751 85, Sweden.
Background: Stillbirth occurs at a rate of 3.0 per thousand in Sweden. However, few studies have focused on the initial experiences of parents facing a stillbirth.
View Article and Find Full Text PDFAm J Hum Genet
December 2024
Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A(∗)STAR, Singapore, Singapore; Laboratory of Human Genetics & Therapeutics, BESE, KAUST, Thuwal, Saudi Arabia; Department of Physiology, Cardiovascular Disease Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. Electronic address:
Four genes-DAND5, PKD1L1, MMP21, and CIROP-form a genetic module that has specifically evolved in vertebrate species that harbor motile cilia in their left-right organizer (LRO). We find here that CIROZ (previously known as C1orf127) is also specifically expressed in the LRO of mice, frogs, and fish, where it encodes a protein with a signal peptide followed by 3 zona pellucida N domains, consistent with extracellular localization. We report 16 individuals from 10 families with bi-allelic CIROZ inactivation variants, which cause heterotaxy with congenital heart defects.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
University of Missouri, Columbia, MO, USA.
Background: Preclinical animal models are essential for the development of effective treatments. For instance, the 5xFAD mouse model successfully represents the pathophysiology of Alzheimer's disease (AD). Expression of humanized APP (K670N/M671L - Swedish, I716V - Florida, V717I - London) and PSEN1 (M146L and L286V), found in early onset AD patients, induces the production of amyloid-β 42 (Aβ42) and amyloid deposition, gliosis, and progressive neuronal loss.
View Article and Find Full Text PDFPhysiol Rep
January 2025
Department of Physiology & Biophysics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
Sympathoexcitation is a hallmark of heart failure, with sustained β-adrenergic receptor (βAR)-G protein signaling activation. βAR signaling is modulated by regulator of G protein signaling (RGS) proteins. Previously, we reported that Gα regulation by RGS2 or RGS5 is key to ventricular rhythm regulation, while the dual loss of both RGS proteins results in left ventricular (LV) dilatation and dysfunction.
View Article and Find Full Text PDFMol Biol Res Commun
January 2025
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
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