The most reliable methods for pregnancy diagnosis in dairy herds include rectal palpation, ultrasound examination, and evaluation of plasma progesterone concentrations. However, these methods are expensive, labor-intensive, and invasive. Thus, there...
The proteins most frequently associated with pregnancy are the pregnancy-associated glycoproteins (PAGs), which are abundantly expressed placental products in species belonging to the order Cetartiodactyla. Multiple PAG isoforms are expressed across...
With estrus confined to three winter months, early pregnancy detection is essential for reproductive management in farmed sika deer. However, the development of reliable non-invasive early pregnancy detection techniques has been hindered by limited u...
Down’s syndrome (DS) is the most common genetic cause of developmental delay with an incidence of 1 in 800 live births, and is the predominant reason why women choose to undergo invasive prenatal diagnosis. However, as invasive tests are associated w...
Preterm delivery affects approximately 10% of pregnancies worldwide and remains a major clinical challenge due to the lack of reliable early predictive tools. Existing strategies are often invasive, relying on blood or amniotic fluid samples and requ...
Background/Objectives: Non-Invasive prenatal test (NIPT) is used as a universal or contingent test after prior risk assessment. Screening is mainly performed for common trisomies (T21, T13, T18), although other chromosomal anomalies may be detected....
Preeclampsia (PE) is a severe hypertensive pregnancy disorder characterized by endothelial dysfunction, placental ischemia and oxidative stress; however, reliable non-invasive biomarkers for early detection are limited. In this study, untargeted soli...
The productivity of dairy animals has significantly increased over the past few decades due to intense genetic selection. However, the enhanced yield performance of milk animals caused a proportional increase in stress and compromised reproductive ef...
Trisomy 7 is the most frequently observed type of rare autosomal trisomies in genome-wide non-invasive prenatal screening (NIPS). Currently, the clinical significance of trisomy 7 NIPS-positive results is still unknown. We reviewed two independent co...
Reliable pregnancy diagnostics would be beneficial for monitoring polar bear (Ursus maritimus) populations both in situ and ex situ, but currently there is no method of non-invasive pregnancy detection in this species. Recent reports in several carni...
Placenta accreta spectrum (PAS) is a severe complication of pregnancy associated with excessive invasion of cytotrophoblast cells at the sites of the endometrial–myometrial interface and the myometrium itself in cases of adherent (creta) and in...
Electrohysterography (EHG) is a promising technique for pregnancy monitoring and preterm risk evaluation. It allows for uterine contraction monitoring as early as the 20th gestational week, and it is a non-invasive technique based on recording the el...
Placental hypoxia poses significant risks to both the developing fetus and the mother during pregnancy, underscoring the importance of early detection and monitoring. Effectively identifying placental hypoxia and evaluating the deterioration in place...
MicroRNAs (miRNAs) are one of the important regulators of cellular functions fundamental for healthy pregnancy processes, including angiogenesis and differentiation of trophoblast cells, and their deregulation could be implicated in the pathogenesis...
Background and objectives: The objective of this study was to evaluate the potential of first trimester uterine artery Doppler ultrasonography for the early prediction of preeclampsia (PE), in at-risk pregnant women. Materials and Methods: This was a...
Background/Objectives: Edwards syndrome, or trisomy 18, is a severe chromosomal disorder marked by numerous congenital anomalies, including micrognathia. This study evaluated the diagnostic significance of micrognathia as a prenatal indicator for tri...
Tetrasomy 9p (ORPHA:3390) is a rare syndrome, hallmarked by growth retardation; psychomotor delay; mild to moderate intellectual disability; and a spectrum of skeletal, cardiac, renal and urogenital defects. Here we present a Chinese female with good...
Mutations in the HSD17B3 gene cause HSD17B3 deficiency and result in 46, XY Disorders of Sex Development (46, XY DSD). The diagnosis of 46, XY DSD is very challenging and not rarely is confirmed only at older ages, when an affected XY female presents...
To evaluate the efficacy of non-invasive prenatal screening (NIPT) for detecting fetal sex chromosome abnormalities, a total of 639 women carrying sex chromosome abnormalities were selected from 222,107 pregnant women who participated in free NIPT fr...
Pregnancy monitoring is always essential for pregnant women and fetuses. According to the report of WHO (World Health Organization), there were an estimated 287,000 maternal deaths worldwide in 2020. Regular hospital check-ups, although well establis...
Extracellular vesicles (EVs) are small vesicles ranging from 20–200 nm to 10 μm in diameter that are discharged and taken in by many different types of cells. Depending on the nature and quantity of their content—which generally includes proteins, li...
Obesity is a worldwide epidemic and can have a profound effect on pregnancy risks. Obese patients tend to be older and are at increased risk for structural fetal anomalies and aneuploidy, making screening options critically important for these women....
Non-invasive prenatal screening (NIPS) in twin gestations has been shown to have high detection rates and low false-positive rates for trisomy 21, as seen in singleton pregnancies, although there have been few large cohort twin studies, genome-wide s...
Postpartum hemorrhage (PPH) is one of the major causes of maternal mortality and morbidity worldwide, with uterine atony being the most common origin. Currently there are no obstetrical techniques available for monitoring postpartum uterine dynamics,...
Exosomes are extracellular vesicles released by cells, both constitutively and after cell activation, and are present in different types of biological fluid. Exosomes are involved in the pathogenesis of diseases, such as cancer, neurodegenerative dis...
Background/Objectives: Over the years, the potential of the first-trimester (FT) ultrasound in the detection of fetal structural defects has increased. The main objectives of the first-trimester fetal screening evaluation are the detection of major s...
Background/Objectives: Non-invasive prenatal testing (NIPT) has become a widely used method for screening common fetal aneuploidies due to its high sensitivity and specificity compared to traditional screening methods. With various NIPT technologies...
Background/Objective: Small-for-gestational-age (SGA) status constitutes a significant risk factor for adverse neonatal outcomes and predisposes individuals to long-term health complications. Detecting pregnancies at risk early in gestation could sig...
Background and objective: Endometrial angiogenesis is a prerequisite for successful pregnancy. Optical coherence tomography (OCT) is a non-invasive physically optical imaging technique widely used in ophthalmology and cardiology. However, there is no...
The current gold standard for the definitive diagnosis of fetal aneuploidy uses either chorionic villus sampling (CVS) or amniocentesis, both of which are which are invasive procedures carrying a procedure-related risk of miscarriage of up to 0.1&nda...
Approximately one in four pregnancies result in pregnancy loss, and ~50% of these miscarriages are caused by chromosomal abnormalities. Genetic investigations are recommended after three consecutive miscarriages on products of conception (POC) tissue...
Background: Recurrent pregnancy loss refers to the spontaneous demise of two or more pregnancies before the 24 weeks of gestation. In almost half of the cases of recurrent miscarriages, the causes remain unknown since there is no reliable way of prog...
Retinoblastoma, the most common childhood eye cancer, presents in two forms: heritable or sporadic. Heritable retinoblastoma is caused by a germline mutation in the RB1 gene. Early diagnosis of children at risk of inheriting an RB1 mutation is crucia...
The ability to comprehensively monitor physiological and detect pathophysiologic processes early during pregnancy can reduce maternal and fetal morbidity and mortality. Contrast-enhanced ultrasound (CEUS) is a non-invasive imaging technology that uti...
Nipple aspirate fluid (NAF) is an intraductal mammary fluid that, because of its close proximity to and origin from the tissue from which breast cancer originates, is a promising source of biomarkers for early breast cancer detection. NAF can be non-...
Background/Objective: Early pregnancy loss is often caused by chromosomal abnormalities, necessitating accurate diagnostic tools. While product of conception (POC) chromosomal testing is commonly used, it can be limited by culture failure or an inabi...
Fetal alcohol spectrum disorder (FASD) is an umbrella term for children’s conditions due to their mother having consumed alcohol during pregnancy. These conditions can be mild to severe, affecting the subject’s quality of life. An earlier diagnosis o...
Background and Objectives: Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, 13, sex chromosomes aneuploidies and several microdeletions. This study aimed to assess the accuracy of cell...
(1) Background: Fetal chromosomal examination is a critical component of modern prenatal testing. Traditionally, maternal serum biomarkers such as free β-human chorionic gonadotropin (Free β-HCG) and pregnancy-associated plasma protein A (P...
Objective: Amniocentesis, chorionic villi sampling and first trimester combined testing are able to screen for common trisomies 13, 18, and 21 and other atypical chromosomal anomalies (ACA). The most frequent atypical aberrations reported are rare au...
11 May 2022
Uterine adenomyosis is a common benign condition defined by the presence of heterotopic endometrial glands and stroma within the myometrium. Adenomyosis is often related to infertility and other adverse pregnancy outcomes. Modern imaging techniques a...
Placenta Accreta Spectrum (PAS) is a life-threatening condition in which placental trophoblastic cells abnormally invade the uterus, often up to the uterine serosa and, in extreme cases, tissues beyond the uterine wall. Currently, there is no clinica...
Although the use of fecal glucocorticoid metabolite (FGCM) measurements as non-invasive biomarkers for the stress response in mammals has increased, few studies have been conducted in odontocetes. We investigated if animal sex, age, pregnancy or cont...
Analysis of the fetal heart rate during pregnancy is essential for monitoring the proper development of the fetus. Current fetal heart monitoring techniques lack the accuracy in fetal heart rate monitoring and features acquisition, resulting in diagn...
(1) Background: The aim of our study is to evaluate whether cell-free DNA testing can overlap the genetic testing of miscarriage tissue in women with early pregnancy loss (EPL) and length of recurrent pregnancy loss (RPL); (2) Methods: We conducted a...
Placental dysfunction underlies the major obstetric syndromes, including preeclampsia, fetal growth restriction, placenta accreta spectrum, pregnancy loss, and monochorionic twin complications. Recent molecular studies have revealed that dysregulated...
Background: Pre-eclampsia (PE) is a serious condition affecting 2–8% of pregnancies worldwide, leading to high maternal and fetal morbidity and mortality. MicroRNAs (miRNAs), small non-coding RNA molecules, have emerged as potential biomarkers...
Zonulin, a protein that regulates intestinal permeability, has attracted attention as a potential biomarker for GDM. Therefore, this study aims to investigate whether there are differences in zonulin levels between the GDM group and control groups, e...
Spontaneous Preterm Delivery (sPTD) is one of the leading causes of perinatal mortality and morbidity worldwide. The present case–control study aims to detect miRNAs differentially expressed in the first trimester maternal plasma with the view...
Fetal exposure in utero to environmental factors and maternal factors can lead to epigenetic changes that have a lasting impact on metabolic programming in the developing organism. These changes may be either temporary or permanent and can have signi...
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