-
Frontiers in Genetics 2024Women with maturity-onset diabetes of the young (MODY) need tailored antenatal care and monitoring of their offspring. Each MODY subtype has different implications for... (Review)
Review
Women with maturity-onset diabetes of the young (MODY) need tailored antenatal care and monitoring of their offspring. Each MODY subtype has different implications for glycaemic targets, treatment choices and neonatal management. Hyperglycaemia of MODY is often first diagnosed in adolescence or early adulthood and therefore is clinically relevant to pregnant women. MODY remains an under-recognised and undiagnosed condition. Pregnancy represents an opportune time to make a genetic diagnosis of MODY and provide precision treatment. This review describes the nuance of antenatal care in women with MODY and the implications for pregnancies affected by a positive paternal genotype. Mutations in hepatic nuclear factor 1-alpha () and 4-alpha () genes are associated with progressive β-cell dysfunction resulting in early onset diabetes. Patients are largely managed with sulphonylureas outside of pregnancy. Macrosomia and persistent neonatal hypoglycaemia are reported in 54% and 15% of genotype positive offspring respectively with a median increase in birthweight of 790 g. Close observation of foetal growth allows optimal timing of delivery to minimise peri- and postpartum materno-foetal complications. Glucokinase ()-MODY causes mild fasting hyperglycaemia which does not require treatment outside of pregnancy. Birthweight of offspring of maternal carriers is dependent on foetal genotype; heterozygous mutation carriers are usually normal weight while genotype negative offspring are large for gestational age (600 g heavier). Affected offspring of paternal carriers may be small for gestational age (500 g lighter). Serial growth scans with measurement of the abdominal circumference indirectly differentiate foetal genotype. Measurement of cell free foetal DNA in maternal blood from the late first trimester is superior to traditionally used ultrasound to distinguish foetal genotype. Cost and accessibility may limit its use.
PubMed: 38933924
DOI: 10.3389/fgene.2024.1362977 -
Viruses Jun 2024Human cytomegalovirus (CMV) infection is the leading non-genetic cause of congenital malformation in developed countries, causing significant fetal injury, and in some...
Human Cytomegalovirus Dysregulates Cellular Dual-Specificity Tyrosine Phosphorylation-Regulated Kinases and Sonic Hedgehog Pathway Proteins in Neural Astrocyte and Placental Models.
Human cytomegalovirus (CMV) infection is the leading non-genetic cause of congenital malformation in developed countries, causing significant fetal injury, and in some cases fetal death. The pathogenetic mechanisms through which this host-specific virus infects then damages both the placenta and the fetal brain are currently ill-defined. We investigated the CMV modulation of key signaling pathway proteins for these organs including dual-specificity tyrosine phosphorylation-regulated kinases (DYRK) and Sonic Hedgehog (SHH) pathway proteins using human first trimester placental trophoblast (TEV-1) cells, primary human astrocyte (NHA) brain cells, and CMV-infected human placental tissue. Immunofluorescence demonstrated the accumulation and re-localization of SHH proteins in CMV-infected TEV-1 cells with Gli2, Ulk3, and Shh re-localizing to the CMV cytoplasmic virion assembly complex (VAC). In CMV-infected NHA cells, DYRK1A re-localized to the VAC and DYRK1B re-localized to the CMV nuclear replication compartments, and the SHH proteins re-localized with a similar pattern as was observed in TEV-1 cells. Western blot analysis in CMV-infected TEV-1 cells showed the upregulated expression of Rb, Ulk3, and Shh, but not Gli2. In CMV-infected NHA cells, there was an upregulation of DYRK1A, DYRK1B, Gli2, Rb, Ulk3, and Shh. These in vitro monoculture findings are consistent with patterns of protein upregulation and re-localization observed in naturally infected placental tissue and CMV-infected ex vivo placental explant histocultures. This study reveals CMV-induced changes in proteins critical for fetal development, and identifies new potential targets for CMV therapeutic development.
Topics: Humans; Hedgehog Proteins; Cytomegalovirus; Pregnancy; Placenta; Astrocytes; Female; Protein-Tyrosine Kinases; Cytomegalovirus Infections; Signal Transduction; Protein Serine-Threonine Kinases; Phosphorylation; Trophoblasts; Dyrk Kinases; Cell Line; Cells, Cultured
PubMed: 38932210
DOI: 10.3390/v16060918 -
Nutrients Jun 2024The maternal microbiome plays a vital role in shaping pregnancy outcomes, but there remains a substantial gap in understanding its precise relationships to maternal... (Observational Study)
Observational Study
The maternal microbiome plays a vital role in shaping pregnancy outcomes, but there remains a substantial gap in understanding its precise relationships to maternal health, particularly in relation to potential effects of body mass index (BMI) on gut microbial diversity. The aim of this observational study was to assess maternal characteristics in association with pre-pregnancy BMI and to further assess microbial diversity in association with specific maternal characteristics. Eighty-four pregnant women were recruited during their third trimester of pregnancy from various prenatal clinics across the state of Michigan. The participants completed an enrollment questionnaire including self-reported pre-pregnancy BMI; stool samples were collected to assess the fecal microbial community composition. Pre-pregnancy obesity (BMI 30+) was associated (univariably) with antibiotic use before pregnancy, ever smoked, lower education level, and being unmarried. The gut microbiota alpha diversity was significantly different for pregnant women by pre-pregnancy BMI category (normal, overweight, obese). The beta diversity was unique for the gut microbiotas of pregnant women within each BMI category, by education level, and by marital status. Multivariable models revealed that pre-pregnancy BMI, maternal education, marital status, and maternal age were associated with the microbial diversity of the gut microbiota during pregnancy. These results give new insight into the relationship between a woman's microbiome during pregnancy and their prenatal health, along with an understanding of the relationships between socioeconomic factors and microbial diversity.
Topics: Humans; Female; Pregnancy; Body Mass Index; Adult; Feces; Gastrointestinal Microbiome; Obesity; Michigan; Young Adult; Educational Status; Socioeconomic Factors; Pregnancy Trimester, Third
PubMed: 38931236
DOI: 10.3390/nu16121881 -
Life (Basel, Switzerland) May 2024Maternal-fetal gestational pathology is one of the biggest challenges in the field of health at this moment. The current study is designed to determine the effects of...
BACKGROUND AND OBJECTIVES
Maternal-fetal gestational pathology is one of the biggest challenges in the field of health at this moment. The current study is designed to determine the effects of vitamin D on pregnancy, starting with the idea that impairment of vitamin D status is thought to be correlated with impairment of the newborn's health.
MATERIALS AND METHODS
In this retrospective study, we tried to establish the link between vitamin D deficiency and maternal characteristics and also how it impacted the clinical status of the newborn. We analyzed a group of 260 patients: 130 pregnant women and 130 newborns, in whom vitamin D status was detected using the serum levels of 25-hydroxyvitamin D (25-(OH)D).
RESULTS
The results showed that vitamin D deficiency has a high incidence among pregnant women, as was presented in many important international studies. Our study also showed a positive, direct correlation between the mother's and newborn's vitamin D status.
CONCLUSIONS
Taking into consideration that vitamin D deficiency has been correlated with many complications, both in maternal and newborn health, a serum level determination of 25-(OH)D is necessary in the first trimester of pregnancy, and after that, adequate supplementation is necessary in order to prevent any negative effects.
PubMed: 38929697
DOI: 10.3390/life14060714 -
Medicina (Kaunas, Lithuania) Jun 2024Preterm-born children are susceptible to problems of adaptation in the early neonatal period, as well as the emergence of consequences due to the immaturity of the... (Review)
Review
Preterm-born children are susceptible to problems of adaptation in the early neonatal period, as well as the emergence of consequences due to the immaturity of the respiratory, cardiovascular, and especially cerebrovascular systems. The authors searched PubMed, Scopus, the Cochrane Library, and Web of Science for articles that were available in their entirety and published in English between 1990 and 2024 in peer-reviewed journals using keywords relevant to the manuscript topic. Analyzing the requested studies and manuscripts, adequate articles describing the stated problem were used. The last trimester of pregnancy is the most important period in brain development. Brain growth is at its most intense, and nerve cells are created, multiply, and migrate, creating numerous connections between them and receptors. During this period, the baby is protected from the influence of external environmental factors. When a baby is born, it leaves its protected environment and very often requires intensive treatment to survive. In these circumstances, the immature nervous system, which is in a sensitive stage of development, is overloaded with numerous external stimuli, continuous light, noise, inappropriate positioning, and repeated painful reactions due to necessary diagnostic and therapeutic procedures and the unavoidable absence of the mother and the family, which cause stress that threatens proper programmed development. Minimally invasive therapeutic procedures and the presence of parents during hospitalization play a significant role in reducing the consequences for a premature child.
Topics: Humans; Infant, Newborn; Premature Birth; Female; Pregnancy; Infant, Premature
PubMed: 38929631
DOI: 10.3390/medicina60061014 -
Medicina (Kaunas, Lithuania) Jun 2024: One of the most significant psychiatric problems in women is depression related to the perinatal period. Our study aims to determine the frequency and course of... (Observational Study)
Observational Study
: One of the most significant psychiatric problems in women is depression related to the perinatal period. Our study aims to determine the frequency and course of depressive symptomatology in the perinatal period with particular reference to objective rate and outcome of postpartum depression. : One hundred and eighty-eight pregnant/postnatal women were included in a prospective, longitudinal, observational study during which the depressive symptomatology was estimated at the third trimester of pregnancy, and the first, sixth, and twelfth month' postpartum. All participants completed a semi-structured sociodemographic questionnaire constructed for research purposes, the Edinburgh Postnatal Depression Scale, Toronto Alexithymia Scale, Beck Anxiety Inventory, and The Mood Disorder Questionnaire at each time point. Postpartum depression diagnosis was confirmed by a trained and certified psychiatrist with long-standing experience. For a better understanding of the trajectory of depressive symptomatology and genuine postpartum depression, we classified depression into those with new-onset and those left over from the previous observation period. In general, 48.9% of participants in the study were depressed at some point during the investigation. A total of 10.6% of women were depressed in the third trimester. The highest percentage of new-onset depression (25%) was in the first month after giving birth and was maintained for up to six months, after which the appearance was sporadic. Most of the postpartum depression resolved in the period from the first month to the sixth month after childbirth (20.7%). The episodes mainly had characteristics of unipolar depression. Our results imply that a new onset of depression is most intensive during the first six months, and after that, it is sporadic. Further studies are needed to explore whether all depressive symptomatology in the postnatal period is the same, or perhaps postpartum depression, classified in this way, has specific characteristics, etiology, and consequently different treatment and preventive options.
Topics: Humans; Female; Pregnancy; Adult; Prospective Studies; Depression, Postpartum; Pregnancy Trimester, Third; Longitudinal Studies; Depression; Psychiatric Status Rating Scales; Parity; Surveys and Questionnaires; Mothers; Postpartum Period
PubMed: 38929587
DOI: 10.3390/medicina60060970 -
International Journal of Environmental... Jun 2024The oral health-related quality of life of pregnant women and its effects on health conditions are important topics to be investigated in scientific research. The...
The oral health-related quality of life of pregnant women and its effects on health conditions are important topics to be investigated in scientific research. The objective of this study was to evaluate the impact of pre-pregnancy obesity on oral health-related quality of life (OHRQoL) in pregnant women. A prospective cohort study was carried out with 93 pregnant women who were evaluated in the 2nd trimester of pregnancy (T1) and after delivery (T2). The following were analyzed: dental caries (DMFT), OHRQoL (OHIP-14), anthropometric data (BMI), socioeconomic, demographic, oral hygiene behavioral habits and the use of dental services. Unadjusted and adjusted Poisson regression analyses were performed to determine the impact of predictors on OHRQoL. The results of the adjusted analysis showed lower education relative risk (RR) (1.37; 95%CI 1.02-1.83; <0.00), low income (RR 2.19; 95%CI 1.63-2.93; <0.00) and higher BMI pre-pregnancy (RR 1.03; 95% CI 1.01-1.04; <0.00) were associated with worse OHRQoL in postpartum pregnant women. Flossing was a predictor of better OHRQoL at T2 (RR 0.73; 95%CI 0.57-0.93; <0.01). Higher BMI, low education, low income and inadequate oral hygiene habits were predictors of worse OHRQOL of pregnant women after the birth of the baby.
Topics: Humans; Female; Pregnancy; Oral Health; Brazil; Adult; Quality of Life; Prospective Studies; Young Adult; Obesity; Cohort Studies; Socioeconomic Factors; Pregnancy Complications; Dental Caries; Body Mass Index; Oral Hygiene
PubMed: 38928986
DOI: 10.3390/ijerph21060740 -
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