-
Acta Obstetricia Et Gynecologica... Jun 2024This study aimed to report the screening performance of cell-free DNA (cfDNA) testing for chromosomal abnormalities in twins, triplets, and vanishing twin pregnancies.
INTRODUCTION
This study aimed to report the screening performance of cell-free DNA (cfDNA) testing for chromosomal abnormalities in twins, triplets, and vanishing twin pregnancies.
MATERIAL AND METHODS
Data were obtained from pregnant women with a multiple pregnancy or a vanishing twin pregnancy at ≥10 weeks' gestation who requested self-financed cfDNA testing between May 2015 and December 2021. Those that had positive screening results had diagnostic confirmatory procedures after counseling and consent. The performance of screening of the cfDNA test was determined by calculating confirmation rate and combined false-positive rate (cFPR).
RESULTS
Data from 292 women were included after exclusion of those lost to follow-up, with no-result on cfDNA testing, or had reductions. Of the 292 pregnancies, 10 (3.4%) were triplets, including no cases of trisomy 21 and trisomy 18; 249 (85.3%) were twins, including 3 cases of trisomy 21 and no cases of trisomy 18 and 13; and 33 (11.3%) were vanishing twins, including 3 cases of trisomy 21 and 1 case of trisomy 18. The median (IQR) maternal age was 34 years (31-37). For triplet pregnancies, the initial no-result rate was 10.3% (95% confidence interval [CI] 3.6-26.4), all with results after redraw. For twin pregnancies, the initial no-result rate was 12.9% (95% CI 9.6-17.0), and the no-result rate after redraw was 1.6% (95% CI 0.7-3.6). For vanishing twins, there were no cases with no-result. All triplets had low-risk cfDNA results. The confirmation rate for trisomy 21 was 100% with a FPR at 0% due to the small number of positive cases for twins. For vanishing twins, one high-risk case for trisomy 21 and the only high-risk case for trisomy 18 were confirmed with a cFPR of 8.3% (n = 2/24; 95% CI 2.3-25.9).
CONCLUSIONS
cfDNA testing in twin pregnancies has sufficient screening performance for trisomy 21 but the number of affected cases for other conditions is limited to draw any meaningful conclusion. The use of cfDNA testing in triplet pregnancies and vanishing twins remains an area for further research.
PubMed: 38924543
DOI: 10.1111/aogs.14901 -
Animal Genetics Jun 2024We recently discovered that the Manech Tête Rousse (MTR) deficient homozygous haplotype 2 (MTRDHH2) probably carries a recessive lethal mutation in sheep. In this...
We recently discovered that the Manech Tête Rousse (MTR) deficient homozygous haplotype 2 (MTRDHH2) probably carries a recessive lethal mutation in sheep. In this study, we fine-mapped this region through whole-genome sequencing of five MTRDHH2 heterozygous carriers and 95 non-carriers from various ovine breeds. We identified a single base pair duplication within the SLC33A1 gene, leading to a frameshift mutation and a premature stop codon (p.Arg246Alafs*3). SLC33A1 encodes a transmembrane transporter of acetyl-coenzyme A that is crucial for cellular metabolism. To investigate the lethality of this mutation in homozygous MTR sheep, we performed at-risk matings using artificial insemination (AI) between heterozygous SLC33A1 variant carriers (SLC33A1_dupG). Pregnancy was confirmed 15 days post-AI using a blood test measuring interferon Tau-stimulated MX1 gene expression. Ultrasonography between 45 and 60 days post-AI revealed a 12% reduction in AI success compared with safe matings, indicating embryonic/fetal loss. This was supported by the MX1 differential expression test suggesting fetal losses between 15 and 60 days of gestation. We also observed a 34.7% pre-weaning mortality rate in 49 lambs born from at-risk matings. Homozygous SLC33A1_dupG lambs accounted for 47% of this mortality, with deaths occurring mostly within the first 5 days without visible clinical signs. Therefore, appropriate management of SLC33A1_dupG with an allele frequency of 0.04 in the MTR selection scheme would help increase overall fertility and lamb survival.
PubMed: 38922751
DOI: 10.1111/age.13459 -
Tropical Medicine and Infectious Disease Jun 2024Congenital toxoplasmosis is a parasitic disease caused by the transmission of the protozoan during pregnancy that can potentially cause severe consequences for the... (Review)
Review
Congenital toxoplasmosis is a parasitic disease caused by the transmission of the protozoan during pregnancy that can potentially cause severe consequences for the fetus or neonates. The disease disproportionately impacts the global population and is generally correlated with the Human Development Index. Despite its prevalence, there are knowledge gaps among pregnant women and healthcare providers regarding the prevention, diagnosis, and treatment of this condition. This narrative review aimed to examine the current state of knowledge of toxoplasmosis among both groups, with a focus on exploring the Brazilian and global perspectives and highlighting opportunities for enhancing education and communication. A search was conducted across five databases, and 60 studies were selected (23 in Brazil and 37 worldwide). Quantitative analysis revealed that general knowledge of toxoplasmosis among pregnant women is notably poor, with 66% of Brazilian women and 72% of women worldwide lacking sufficient understanding. Among those with some knowledge, the most recognized association is with cats (46% in Brazil and 38% worldwide), followed by raw or undercooked meat (27% in Brazil and 25% worldwide), and improperly sanitized vegetables or water (15% in Brazil and 21% worldwide). Similarly, gaps in knowledge were found among healthcare providers. Difficulty with IgG avidity test interpretation is higher in Brazil (43%) compared to worldwide (18%). The most recognized association is with cats (66% in Brazil and 74% worldwide), followed by raw or undercooked meat (49% in Brazil and 70% worldwide), and improperly sanitized vegetables or water (31% in Brazil and 32% worldwide). These findings emphasize the need for tailored local and global public health educational initiatives to enhance knowledge of toxoplasmosis among pregnant women and healthcare providers.
PubMed: 38922049
DOI: 10.3390/tropicalmed9060137 -
Cells Jun 2024Exposure to cigarette smoke is known to induce disease during pregnancy. Recent evidence showed that exposure to secondhand smoke (SHS) negatively impacts fetal and...
Exposure to cigarette smoke is known to induce disease during pregnancy. Recent evidence showed that exposure to secondhand smoke (SHS) negatively impacts fetal and placental weights, leading to the development of intrauterine growth restriction (IUGR). Electronic cigarettes (eCigs) represent a phenomenon that has recently emerged, and their use is also steadily rising. Even so, the effects of SHS or eCigs during gestation remain limited. In the present study, we wanted to characterize the effects of SHS or eCig exposure at two different important gestational points during mouse pregnancy. C57/Bl6 mice were exposed to SHS or eCigs via a nose-only delivery system for 4 days (from 14.5 to 17.5 gestational days (dGA) or for 6 days (from 12.5 dGA to 17.5 dGA)). At the time of necropsy (18.5 dGA), placental and fetal weights were recorded, maternal blood pressure was determined, and a dipstick test to measure proteinuria was performed. Placental tissues were collected, and inflammatory molecules in the placenta were identified. Treatment with SHS showed the following: (1) a significant decrease in placental and fetal weights following four days of exposure, (2) higher systolic and diastolic blood pressure following six days of exposure, and (3) increased proteinuria after six days of exposure. Treatment with eCigs showed the following: (1) a significant decrease in placental weight and fetal weight following four or six days of exposure, (2) higher systolic and diastolic blood pressure following six days of exposure, and (3) increased proteinuria after six days of exposure. We also observed different inflammatory markers associated with the development of IUGR or PE. We conclude that the detrimental effects of SHS or eCig treatment coincide with the length of maternal exposure. These results could be beneficial in understanding the long-term effects of SHS or eCig exposure in the development of placental diseases.
Topics: Pregnancy; Female; Animals; Tobacco Smoke Pollution; Mice; Mice, Inbred C57BL; Placenta; Placenta Diseases; E-Cigarette Vapor; Maternal Exposure; Blood Pressure; Fetal Growth Retardation; Electronic Nicotine Delivery Systems
PubMed: 38920640
DOI: 10.3390/cells13121009 -
Annals of the Academy of Medicine,... Aug 2023To determine the distribution of major fetal congenital heart diseases (CHDs) diagnosed antenatally during routine second-trimester obstetric anatomical scans in an...
OBJECTIVE
To determine the distribution of major fetal congenital heart diseases (CHDs) diagnosed antenatally during routine second-trimester obstetric anatomical scans in an unselected population at a single tertiary centre and to characterise and stratify risk factors, genetic diagnosis and long-term health at 4 years old.
METHOD
A single-centre cohort study of all major fetal CHDs detected on routine obstetric fetal anatomical ultrasound scans between January 2014 and December 2017 was performed in an unselected population. Demographic details, fetal echocardiogram reports, genetic test results, delivery outcomes and postnatal progress were stratified by CHD subtype.
RESULTS
Of 20,031 screened pregnancies, 109 pregnancies (0.53%) had major fetal CHDs. The most common subtypes were coarctation of aorta (17.4%), transposition of great arteries (16.5%), and tetralogy of Fallot and univentricular hearts (13.8% each). Of the 60.5% that underwent confirmatory genetic testing-mostly conventional karyotyping and testing for 22q11 microdeletion-about a quarter had abnormalities, of which 22q microdeletion was the most common. We had complete obstetric data in 85 pregnancies (78%), of which 76.5% progressed to live birth. Among these, 92.1% of postnatal echocardiograms concurred with antenatal ones. At 4 years old, 43.2% of offspring had no medical or developmental issues, 20.0% had mild medical or developmental issues, 21.5% had major medical or developmental issues, and 12.3% had deceased.
CONCLUSION
Fetal echocardiograms accurately diagnose CHDs. Future studies should evaluate the roles of chromosomal microarray and next-generation sequencing in diagnosing CHD.
Topics: Humans; Female; Pregnancy; Heart Defects, Congenital; Ultrasonography, Prenatal; Genetic Testing; Echocardiography; Adult; Cohort Studies; Pregnancy Trimester, Second; Child, Preschool; Singapore; Karyotyping
PubMed: 38920167
DOI: 10.47102/annals-acadmedsg.2022472 -
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 -
AJOG Global Reports May 2024Hypertensive disorders of pregnancy are increasing in prevalence and a leading cause of early postpartum readmissions. Stricter blood pressure target goals for treatment...
BACKGROUND
Hypertensive disorders of pregnancy are increasing in prevalence and a leading cause of early postpartum readmissions. Stricter blood pressure target goals for treatment of hypertension during pregnancy have recently been proposed, however, the treatment goals for management of postpartum hypertension are less well established.
OBJECTIVE
We sought to evaluate the clinical factors associated with early postpartum readmissions for hypertensive disease and to evaluate blood pressure thresholds associated with these readmissions.
STUDY DESIGN
We conducted a retrospective cohort study of women delivering at a tertiary care center between January 2018 and May 2022 who experienced a hospital readmission for postpartum hypertension or new onset postpartum preeclampsia. Charts were reviewed for clinical and sociodemographic data. Patients with early readmission (<72 hours after discharge) were compared with patients readmitted after 3 days of initial discharge. Data were analyzed using chi-square, Student test, Mann-Whitney test, and logistic regression where appropriate. The value <.05 was considered significant.
RESULTS
During the study period, 23,372 deliveries occurred. Postpartum readmission due to worsening of a known diagnosis of hypertension or new onset postpartum preeclampsia occurred in 1.1% and 0.49% respectively. Patients with early readmission were more likely to have hypertensive disorders of pregnancy as the indication for delivery. Among patients readmitted, 93% had 2 or more systolic blood pressure ≥140 mmHg or diastolic blood pressure ≥90 mmHg, and 73% had blood pressure of either systolic between 130 and 139 mmHg or diastolic between 80 and 89 mmHg within 24 hours before initial discharge. Only 27 patients met criteria (blood pressure ≥160/110 mmHg on >1 vitals check during their hospitalization) to be started on antihypertensives before initial delivery discharge; of those 25 (93%) were discharged with a new prescription for an antihypertensive. After controlling for confounding variables, predischarge blood pressure between 130-140 mmHg/80-90 mmHg (adjusted odds ratio, 2.4 [1.5-4.0]) was associated with an increased likelihood of early readmission.
CONCLUSION
Patients with delivery for hypertensive disorders of pregnancy and predischarge blood pressure ≥140/90 mmHg were less likely to have an early readmission within 3 days of initial discharge, however, patients with predischarge blood pressure 130-139 mmHg/80-89 mmHg were more likely to have an early readmission for hypertensive disorders of pregnancy and postpartum preeclampsia. Further research is indicated to evaluate interventions to prevent postpartum readmission in patients at high risk for persistent hypertension or new onset postpartum preeclampsia.
PubMed: 38919706
DOI: 10.1016/j.xagr.2024.100323 -
Frontiers in Psychiatry 2024Antenatal depression in Human Immunodeficiency Virus (HIV) positive pregnant women can have significant adverse effects on both the mother and newborns, yet it is often...
BACKGROUND
Antenatal depression in Human Immunodeficiency Virus (HIV) positive pregnant women can have significant adverse effects on both the mother and newborns, yet it is often overlooked in pregnancy care in Sub-Saharan Africa (SSA). Despite this, there is limited data on the combined prevalence of antenatal depression and its predictors among HIV-positive women in the region.
OBJECTIVE
To assess the pooled prevalence of antenatal depression and its associated factors among HIV-positive women in SSA.
METHODS
All primary cross-sectional studies published before 1 January/2024, were included. We conducted searches in relevant databases; PubMed, HINARI, Web of Science, PsycINFO, Psychiatry Online, ScienceDirect, and Google Scholar. The Joanna Briggs Institute checklist was used to critically appraise the selected studies. To assess heterogeneity among the studies, we utilized the I test. Publication bias was evaluated using a funnel plot and Egger's test. The forest plot was used to present the combined proportion of antenatal depression and odds ratio, along with a 95% confidence interval.
RESULTS
The pooled prevalence of antenatal depression among HIV-positive women in Sub-Saharan Africa was found to be 30.6% (95% CI, 19.8%-41.3%). Factors significantly associated with antenatal depression among HIV-positive women in SSA included being unmarried (AOR: 3.09, 95% CI: 1.57 - 6.07), having a previous history of depression (AOR: 2.97, 95% CI: 1.79 - 4.91), experiencing intimate partner violence (IPV) (AOR: 2.11, 95% CI: 1.44 - 3.09), and experiencing stigma (AOR: 1.36, 95% CI: 1.05 - 1.76).
CONCLUSION
High prevalence of antenatal depression among HIV-positive women in SSA underscores the need for prioritizing identification and management. Interventions addressing factors like IPV and stigma, along with training for healthcare providers in recognizing symptoms and providing support, are recommended.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/PROSPERO/, identifier CRD42024508236.
PubMed: 38919635
DOI: 10.3389/fpsyt.2024.1385323 -
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 -
Frontiers in Endocrinology 2024Preeclampsia is a disease with an unknown pathogenesis and is one of the leading causes of maternal and perinatal morbidity. At present, early identification of...
INTRODUCTION
Preeclampsia is a disease with an unknown pathogenesis and is one of the leading causes of maternal and perinatal morbidity. At present, early identification of high-risk groups for preeclampsia and timely intervention with aspirin is an effective preventive method against preeclampsia. This study aims to develop a robust and effective preeclampsia prediction model with good performance by machine learning algorithms based on maternal characteristics, biophysical and biochemical markers at 11-13 + weeks' gestation, providing an effective tool for early screening and prediction of preeclampsia.
METHODS
This study included 5116 singleton pregnant women who underwent PE screening and fetal aneuploidy from a prospective cohort longitudinal study in China. Maternal characteristics (such as maternal age, height, pre-pregnancy weight), past medical history, mean arterial pressure, uterine artery pulsatility index, pregnancy-associated plasma protein A, and placental growth factor were collected as the covariates for the preeclampsia prediction model. Five classification algorithms including Logistic Regression, Extra Trees Classifier, Voting Classifier, Gaussian Process Classifier and Stacking Classifier were applied for the prediction model development. Five-fold cross-validation with an 8:2 train-test split was applied for model validation.
RESULTS
We ultimately included 49 cases of preterm preeclampsia and 161 cases of term preeclampsia from the 4644 pregnant women data in the final analysis. Compared with other prediction algorithms, the AUC and detection rate at 10% FPR of the Voting Classifier algorithm showed better performance in the prediction of preterm preeclampsia (AUC=0.884, DR at 10%FPR=0.625) under all covariates included. However, its performance was similar to that of other model algorithms in all PE and term PE prediction. In the prediction of all preeclampsia, the contribution of PLGF was higher than PAPP-A (11.9% VS 8.7%), while the situation was opposite in the prediction of preterm preeclampsia (7.2% VS 16.5%). The performance for preeclampsia or preterm preeclampsia using machine learning algorithms was similar to that achieved by the fetal medicine foundation competing risk model under the same predictive factors (AUCs of 0.797 and 0.856 for PE and preterm PE, respectively).
CONCLUSIONS
Our models provide an accessible tool for large-scale population screening and prediction of preeclampsia, which helps reduce the disease burden and improve maternal and fetal outcomes.
Topics: Humans; Female; Pregnancy; Pre-Eclampsia; Machine Learning; Adult; China; Prospective Studies; Cohort Studies; Longitudinal Studies; Biomarkers; Algorithms; Risk Factors; Prognosis; Placenta Growth Factor
PubMed: 38919479
DOI: 10.3389/fendo.2024.1345573