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Genes May 2024Celocentesis is a new sampling tool for prenatal diagnosis available from 7 weeks in case of couples at risk for genetic diseases. In this study, we reported the...
Celocentesis is a new sampling tool for prenatal diagnosis available from 7 weeks in case of couples at risk for genetic diseases. In this study, we reported the feasibility of earlier prenatal diagnosis by celocentesis in four cases of cystic fibrosis and one case of cystic fibrosis and β-thalassemia co-inherited in the same fetus. Celomic fluids were aspired from the celomic cavity between 8 and 9 weeks of gestation and fetal cells were picked up by micromanipulator. Maternal DNA contamination was tested and target regions of fetal DNA containing parental pathogenetic variants of and genes were amplified and sequenced. Four of the five fetuses resulted as being affected by cystic fibrosis and, in all cases, the women decided to interrupt the pregnancy. In the other case, the fetus presented a healthy carrier of cystic fibrosis. The results were confirmed in three cases on placental tissue. In one case, no abortive tissue was obtained. In the last case, the woman refused the prenatal diagnosis to confirm the celocentesis data; the pregnancy is ongoing without complications. This procedure provides prenatal diagnosis of monogenic diseases at least four weeks earlier than traditional procedures, reducing the anxiety of patients and providing the option for medical termination of the affected fetus at 8-10 weeks of gestation, which is less traumatic and safer than surgical termination in the second trimester.
Topics: Humans; Cystic Fibrosis; Female; Pregnancy; Prenatal Diagnosis; Cystic Fibrosis Transmembrane Conductance Regulator; Adult; beta-Thalassemia; Fetus
PubMed: 38927598
DOI: 10.3390/genes15060662 -
Biomedicines Jun 2024Maternal blood glucose regulation adaptation to pregnancy aims to support fetal growth but may also lead to the development of gestational diabetes mellitus, the most...
Maternal blood glucose regulation adaptation to pregnancy aims to support fetal growth but may also lead to the development of gestational diabetes mellitus, the most common pregnancy complication. MiRNAs are small RNA molecules secreted and stable in the blood, where they could have paracrine hormone-like functions (ribo-hormone) and regulate metabolic processes including fetal growth and glucose metabolism. The objective of this study was to identify plasmatic microRNA (miRNAs) measured during the first trimester of pregnancy that were associated with glucose levels during a 75 g oral glucose tolerance test (OGTT) at ~26 weeks of pregnancy. miRNAs were quantified using next-generation sequencing in 444 pregnant women and replicated in an independent cohort of 106 pregnant women. MiRNAs associated with glucose levels were identified with the DESeq2 package. We identified 24 miRNAs associated with fasting glycemia, of which 18 were common to both cohorts (q-value < 0.1). However, no association was found between miRNAs and 1 h or 2 h post OGTT glycemia. To conclude, we identified 18 miRNAs early in pregnancy that were associated with fasting blood glucose measured 3 months later. Our findings offer new insights into the mechanisms involved in fasting glucose homeostasis regulation in pregnancy, which is critical to understanding how gestational diabetes develops.
PubMed: 38927492
DOI: 10.3390/biomedicines12061285 -
Biomedicines May 2024Gestational diabetes mellitus (GDM) is a hyperglycemic state that is typically diagnosed by an oral glucose tolerance test (OGTT), which is unpleasant, time-consuming,...
Simple and Fast Prediction of Gestational Diabetes Mellitus Based on Machine Learning and Near-Infrared Spectra of Serum: A Proof of Concept Study at Different Stages of Pregnancy.
Gestational diabetes mellitus (GDM) is a hyperglycemic state that is typically diagnosed by an oral glucose tolerance test (OGTT), which is unpleasant, time-consuming, has low reproducibility, and results are tardy. The machine learning (ML) predictive models that have been proposed to improve GDM diagnosis are usually based on instrumental methods that take hours to produce a result. Near-infrared (NIR) spectroscopy is a simple, fast, and low-cost analytical technique that has never been assessed for the prediction of GDM. This study aims to develop ML predictive models for GDM based on NIR spectroscopy, and to evaluate their potential as early detection or alternative screening tools according to their predictive power and duration of analysis. Serum samples from the first trimester (before GDM diagnosis) and the second trimester (at the time of GDM diagnosis) of pregnancy were analyzed by NIR spectroscopy. Four spectral ranges were considered, and 80 mathematical pretreatments were tested for each. NIR data-based models were built with single- and multi-block ML techniques. Every model was subjected to double cross-validation. The best models for first and second trimester achieved areas under the receiver operating characteristic curve of 0.5768 ± 0.0635 and 0.8836 ± 0.0259, respectively. This is the first study reporting NIR-spectroscopy-based methods for the prediction of GDM. The developed methods allow for prediction of GDM from 10 µL of serum in only 32 min. They are simple, fast, and have a great potential for application in clinical practice, especially as alternative screening tools to the OGTT for GDM diagnosis.
PubMed: 38927349
DOI: 10.3390/biomedicines12061142 -
BMC Pregnancy and Childbirth Jun 2024Preeclampsia (PE) is a pregnancy-related multi-organ disease and a significant cause of incidence rate and mortality of pregnant women and newborns worldwide. Delivery...
OBJECTIVE
Preeclampsia (PE) is a pregnancy-related multi-organ disease and a significant cause of incidence rate and mortality of pregnant women and newborns worldwide. Delivery remains the only available treatment for PE. This study aims to establish a dynamic prediction model for PE.
METHODS
A total of 737 patients who visited our hospital from January 2021 to June 2022 were identified according to the inclusion and exclusion criteria, forming the primary dataset. Additionally, 176 singleton pregnant women who visited our hospital from July 2022 to November 2022 comprised the verification set. We investigated different gestational weeks of sFlt-1/PLGF (soluble FMS-like tyrosine kinase-1, placental growth factor) ratio combined with maternal characteristics and routine prenatal laboratory results in order to predict PE in each trimester. Multivariate logistic regression was used to establish the prediction model for PE at different gestational weeks. The discrimination, calibration, and clinical validity were utilized to evaluate predictive models as well as models in external validation queues.
RESULTS
At 20-24 weeks, the obtained prediction model for PE yielded an area under the curve of 0.568 (95% confidence interval, 0.479-0.657). At 25-29 weeks, the obtained prediction model for PE yielded an area under the curve of 0.773 (95% confidence interval, 0.703-0.842)and 0.731 (95% confidence interval, 0.653-0.809) at 30-34 weeks. After adding maternal factors, uterine artery pulsation index(Ut-IP), and other laboratory indicators to the sFlt-1/PLGF ratio, the predicted performance of PE improved. It found that the AUC improved to 0.826(95% confidence interval, 0.748 ∼ 0.904) at 20-24 weeks, 0.879 (95% confidence interval, 0.823 ∼ 0.935) at 25-29 weeks, and 0.862(95% confidence interval, 0.799 ∼ 0.925) at 30-34 weeks.The calibration plot of the prediction model indicates good predictive accuracy between the predicted probability of PE and the observed probability. Furthermore, decision-curve analysis showed an excellent clinical application value of the models.
CONCLUSION
Using the sFlt-1/PLGF ratio combined with multiple factors at 25-29 weeks can effectively predict PE, but the significance of re-examination in late pregnancy is not significant.
Topics: Humans; Pregnancy; Female; Pre-Eclampsia; Vascular Endothelial Growth Factor Receptor-1; Placenta Growth Factor; Adult; Biomarkers; Predictive Value of Tests; Gestational Age; Logistic Models; Retrospective Studies
PubMed: 38926668
DOI: 10.1186/s12884-024-06627-4 -
Current Issues in Molecular Biology Jun 2024Toxoplasmosis is an infection caused by the parasite One-third of the world's population has come into contact with this parasite. In Mexico, the prevalence is between...
Toxoplasmosis is an infection caused by the parasite One-third of the world's population has come into contact with this parasite. In Mexico, the prevalence is between 15% and 50% in the general population and 34.9% in women with high-risk pregnancies. In pregnancy, the highest incidence of infection occurs in the third trimester and fetal damage is inversely proportional to gestational age. Maternal hormones play a fundamental role in the immune response. There are very few studies, with controversial results, on the levels of increased hormones and their relationship to the kinetics of infections during pregnancy. The aim was to determine the serum levels of 17-β estradiol, prolactin, and progesterone, and their association with anti- antibodies' kinetics in pregnancy. Fifty-two pregnant patients were studied. A questionnaire with sociodemographic and clinical aspects was used. Afterward, 10 mL of venous blood was collected by venipuncture every trimester. The concentrations of 17-β estradiol, progesterone, and prolactin were measured, using the ELISA method. In addition, anti- IgG and IgM antibodies were also determined in the first, second, and third trimester. The prevalence of anti- IgG antibodies was 26.92% in the first and second trimester and 32.7% in the third trimester. In seropositive women, 17-β estradiol increased in the second and third trimesters of pregnancy. Progesterone increased significantly < 0.039 in the third trimester in these women, while prolactin increased in the second trimester with a statistical significance of < 0.021. In addition, 17-β estradiol, progesterone, and prolactin are associated with infection during pregnancy. New studies are necessary to clarify the specific mechanisms of immune response related to these hormones during pregnancy.
PubMed: 38921012
DOI: 10.3390/cimb46060341 -
Diseases (Basel, Switzerland) May 2024This comparative cross-sectional study conducted at the "Pius Brinzeu" healthcare center in Timisoara explored the differential impacts of pregnancy planning status on...
This comparative cross-sectional study conducted at the "Pius Brinzeu" healthcare center in Timisoara explored the differential impacts of pregnancy planning status on sexual function, body image, and relationship satisfaction among pregnant women. Employing the Female Sexual Function Index (FSFI), Body Esteem Scale for Adolescents and Adults (BESAQ), and the Beck Depression Inventory (BDI-II), the study analyzed responses from 107 participants divided into groups of planned ( = 59, mean age 28.5 ± 5.2) and unplanned ( = 48, mean age 27.3 ± 4.8) pregnancies. In the first trimester, unplanned pregnancies reported higher median scores in desire (4.7 vs. 3.6, = 0.005), arousal (4.5 vs. 3.8, = 0.001), and lubrication (4.6 vs. 3.7, = 0.015) compared to planned pregnancies. Satisfaction scores also favored unplanned pregnancies in the first trimester (4.8 vs. 3.9, = 0.009). Similar trends were observed in subsequent trimesters, with unplanned pregnancies consistently reporting higher FSFI scores, indicating a robust sexual function. Risk factors significantly associated with sexual dysfunction were a higher BMI in the first trimester (beta coefficient: -0.124, = 0.019), unmarried civil status (beta coefficient: -0.323, = 0.045), history of previous abortion (beta coefficient: -0.451, = 0.012), irregular menstrual cycles (beta coefficient: -0.384, = 0.026), and rural living area (beta coefficient: -0.278, = 0.034). Notably, unplanned pregnancy itself was not a significant risk factor for sexual dysfunction (beta coefficient: -0.054, = 0.095). Regarding relationship dynamics, planned pregnancies exhibited significantly higher satisfaction with partner support (4.1 ± 0.9 vs. 3.7 ± 1.1, = 0.041) and communication within the couple (4.0 ± 1.0 vs. 3.5 ± 1.2, = 0.020), whereas unplanned pregnancies reported higher satisfaction with emotional closeness (4.3 ± 0.7 vs. 3.8 ± 1.0, = 0.004). Concerns about managing professional activities and household chores were significantly more prevalent in the unplanned pregnancy group (62.50% vs. 33.90%, = 0.014). Unplanned pregnancies demonstrated better initial sexual function but faced greater challenges in relationship satisfaction and managing pregnancy demands. Identifying and addressing the risk factors associated with sexual dysfunction can provide targeted interventions to improve the well-being of pregnant women, regardless of pregnancy planning status.
PubMed: 38920541
DOI: 10.3390/diseases12060109 -
Annali Dell'Istituto Superiore Di Sanita 2024Maternal antenatal depression affects 21-28% of expectants globally and negatively impacts both maternal and child health in the short and long term. (Comparative Study)
Comparative Study
BACKGROUND
Maternal antenatal depression affects 21-28% of expectants globally and negatively impacts both maternal and child health in the short and long term.
OBJECTIVE
To compare the psychometric properties and clinical utility of the Edinburgh Postnatal Depression Scale (EPDS) and the Patient Health Questionnaire (PHQ-9) in pregnant individuals.
METHODS
In this cross-sectional study, 953 third-trimester pregnant Italian individuals completed both the EPDS and the PHQ-9.
RESULTS
Both scales demonstrated good internal consistency (EPDS ω=0.83, PHQ-9 ω=0.80) and a moderate correlation between their scores (r=0.59). Concordance at recommended cut-off points (≥14 for both) was moderate (k=0.55). Factor analyses indicated a bifactor solution for the EPDS (dimensions: "depression" and "anxiety") and for the PHQ-9 (dimensions: "depression", "pregnancy symptoms", "somatic"). Benchmarks for clinical change were also established.
CONCLUSIONS
The EPDS and PHQ-9 capture distinct aspects of perinatal depressive symptomatology. Clinically, these findings recommend using both scales in obstetric and gynaecologic settings to minimize false positives and negatives.
Topics: Humans; Female; Pregnancy; Adult; Cross-Sectional Studies; Pregnancy Complications; Psychometrics; Depression; Patient Health Questionnaire; Psychiatric Status Rating Scales; Depression, Postpartum; Italy; Young Adult; Surveys and Questionnaires; Reproducibility of Results; Mass Screening
PubMed: 38920259
DOI: 10.4415/ANN_24_01_08 -
Archive of Clinical Cases 2024Mediastinal tumors are exceedingly rare during fetal development, presenting significant diagnostic challenges and potentially leading to severe outcomes such as...
Mediastinal tumors are exceedingly rare during fetal development, presenting significant diagnostic challenges and potentially leading to severe outcomes such as stillbirth or metastatic disease if not promptly identified and managed. Pleuropulmonary blastomas are primitive mesenchymal tumors often linked to mutations in the DICER1 gene, indicating a hereditary pattern associated with other common adult neoplasms with dominant inheritance. This report describes a case involving a 20-year-old Caucasian woman whose pregnancy was complicated by a stillbirth in the second trimester. Initial suspicions of a mediastinal tumor arose from blood tests and ultrasound examinations during pregnancy surveillance. However, the definitive diagnosis of a type II pleuropulmonary blastoma was established through a pathological examination at autopsy. This case underscores the complexities of diagnosing fetal mediastinal tumors and contributes to the sparse literature on neonatal pleuropulmonary blastomas. Our comprehensive review of the differential diagnoses and literature emphasizes the unique characteristics of pleuropulmonary blastoma and its similarities to other soft tissue sarcomas, enhancing understanding of their clinical and genetic profiles.
PubMed: 38919847
DOI: 10.22551/2024.43.1102.10286 -
Journal of Pregnancy 2024Thyroid hormones regulate fetal growth and differentiation of several tissues. Maternal dietary patterns may be correlated with changes in the level of neonatal...
Thyroid hormones regulate fetal growth and differentiation of several tissues. Maternal dietary patterns may be correlated with changes in the level of neonatal thyroid-stimulating hormone (TSH). We hypothesized that since maternal nutrition affects birth weight and offspring growth, it may also impact endocrine patterns in offspring. This study is aimed at assessing the relationship between maternal dietary phytochemical index (DPI) in the first trimester of pregnancy and neonatal cord blood thyroid hormone levels. This cross-sectional study is a substudy of a birth cohort. Overall, 216 mothers, aged 16-45 years, were recruited in their first trimester of pregnancy. To calculate DPI, the daily energy percentage of phytochemical-rich foods was divided by the total daily energy intake. At delivery time, TSH and free thyroxine (FT4) levels were measured in cord blood samples using chemiluminescence immunoassay. The mean (standard deviation (SD)) age of mothers was 29.56 (5.50) years, and 47% of newborns were girls. The mean (SD) of DPI in the first, second, third, and fourth quartiles was 25.03 ± 4.67, 33.87 ± 2.18, 40.64 ± 2.10, and 51.17 ± 4.98, respectively. There was not any significant correlation between DPI score with cord serum TSH and FT4 levels in crude and adjusted analysis. No significant relationship between maternal DPI with cord serum TSH and FT4 levels was shown. Limited experience exists about the effect of maternal diet quality indices on neonatal thyroid function, and further studies are needed in this regard.
Topics: Humans; Female; Adult; Infant, Newborn; Cross-Sectional Studies; Pregnancy; Thyrotropin; Young Adult; Thyroxine; Adolescent; Fetal Blood; Male; Phytochemicals; Diet; Thyroid Gland; Maternal Nutritional Physiological Phenomena; Middle Aged; Thyroid Function Tests
PubMed: 38919582
DOI: 10.1155/2024/9558023 -
BMC Research Notes Jun 2024To assess first-trimester recruitment and retention of pregnant patients who regularly used cannabis, but not other substances, measured by willingness to participate in...
OBJECTIVE
To assess first-trimester recruitment and retention of pregnant patients who regularly used cannabis, but not other substances, measured by willingness to participate in a research study, completion of self-administered electronic questionnaires, and willingness to provide urine samples during each trimester of pregnancy. We designed and launched a prospective feasibility study titled, Cannabis Legalization in Michigan (CALM) - Maternal & Infant Health (MIH), in two Michigan clinics after the recreational use of cannabis became legal for adults 21 years and older.
RESULTS
Over half (52%) of patients asked to participate in CALM-MIH were consented to the study. Two-thirds (66%) of screened patients initiated prenatal care during their first trimester of pregnancy and 50% used cannabis, of which the majority did not concurrently use other substances. Of those recruited into the prospective study, all participants completed the first-trimester questionnaire and provided urine samples. Study retention was 80% and all participants who completed follow-up assessments were willing to provide urine samples.
Topics: Humans; Female; Pregnancy; Feasibility Studies; Adult; Prospective Studies; Cannabis; Pregnancy Trimester, First; Patient Selection; Surveys and Questionnaires; Young Adult; Michigan; Prenatal Care
PubMed: 38918795
DOI: 10.1186/s13104-024-06826-4