-
BMC Pregnancy and Childbirth Jul 2024TBX6, a member of the T-box gene family, encodes the transcription factor box 6 that is critical for somite segmentation in vertebrates. It is known that the compound...
BACKGROUND
TBX6, a member of the T-box gene family, encodes the transcription factor box 6 that is critical for somite segmentation in vertebrates. It is known that the compound heterozygosity of disruptive variants in trans with a common hypomorphic risk haplotype (T-C-A) in the TBX6 gene contribute to 10% of congenital scoliosis (CS) cases. The deletion of chromosome 17q12 is a rare cytogenetic abnormality, which often leads to renal cysts and diabetes mellitus. However, the affected individuals often exhibit clinical heterogeneity and incomplete penetrance.
METHODS
We here present a Chinese fetus who was shown to have CS by ultrasound examination at 17 weeks of gestation. Trio whole-exome sequencing (WES) was performed to investigate the underlying genetic defects of the fetus. In vitro functional experiments, including western-blotting and luciferase transactivation assay, were performed to determine the pathogenicity of the novel variant of TBX6.
RESULTS
WES revealed the fetus harbored a compound heterozygous variant of c.338_340del (p.Ile113del) and the common hypomorphic risk haplotype of the TBX6 gene. In vitro functional study showed the p.Ile113del variant had no impact on TBX6 expression, but almost led to complete loss of its transcriptional activity. In addition, we identified a 1.85 Mb deletion on 17q12 region in the fetus and the mother. Though there is currently no clinical phenotype associated with this copy number variation in the fetus, it can explain multiple renal cysts in the pregnant woman.
CONCLUSIONS
This study is the first to report a Chinese fetus with a single amino acid deletion variant and a T-C-A haplotype of TBX6. The clinical heterogeneity of 17q12 microdeletion poses significant challenges for prenatal genetic counseling. Our results once again suggest the complexity of prenatal genetic diagnosis.
Topics: Humans; T-Box Domain Proteins; Female; Chromosomes, Human, Pair 17; Haplotypes; Pregnancy; Heterozygote; Adult; Chromosome Deletion; Exome Sequencing; Sequence Deletion; Fetus; Ultrasonography, Prenatal
PubMed: 38951757
DOI: 10.1186/s12884-024-06653-2 -
BMC Pregnancy and Childbirth Jul 2024The rates of labor induction and cesarean delivery is rising worldwide. With the confluence of these trends, the labor induction rate in trials of labor after cesarean...
Short stature and vaginal dinoprostone as independent predictors of composite maternal-newborn adverse outcomes in induction of labor after one previous cesarean: a retrospective cohort study.
BACKGROUND
The rates of labor induction and cesarean delivery is rising worldwide. With the confluence of these trends, the labor induction rate in trials of labor after cesarean can be as high as 27-32.7%. Induction of labor after one previous cesarean (IOLAC) is a high-risk procedure mainly due to the higher risk of uterine rupture. Nevertheless, the American College of Obstetricians and Gynecologists considers IOLAC as an option in motivated and informed women in the appropriate care setting. We sought to identify predictors of a composite of maternal and newborn adverse outcomes following IOLAC.
METHODS
The electronic medical records of women who delivered between January 2018 to September 2022 in a Malaysian university hospital were screened to identify cases of IOLAC. A case is classified as a composite adverse outcome if at least one of these 11 adverse outcomes of delivery blood loss ≥ 1000 ml, uterine scar complications, cord prolapse or presentation, placenta abruption, maternal fever (≥ 38 C), chorioamnionitis, intensive care unit (ICU) admission, Apgar score < 7 at 5 min, umbilical artery cord artery blood pH < 7.1 or base excess ≤-12 mmol/l, and neonatal ICU admission was present. An unplanned cesarean delivery was not considered an adverse outcome as the practical management alternative for a clinically indicated IOLAC was a planned cesarean. Bivariate analysis of participants' characteristics was performed to identify predictors of their association with composite adverse outcome. Characteristics with crude p < 0.10 on bivariate analysis were incorporated into a multivariable binary logistic regression analysis model.
RESULTS
Electronic medical records of 19,064 women were screened. 819 IOLAC cases and 98 cases with composite adverse outcomes were identified. Maternal height, ethnicity, previous vaginal delivery, indication of previous cesarean, indication for IOLAC, and method of IOLAC had p < 0.10 on bivariate analysis and were incorporated into a multivariable binary logistic regression analysis. After adjustment, only maternal height and IOLAC by vaginal dinoprostone compared to Foley balloon remained significant at p < 0.05. Post hoc adjusted analysis that included all unplanned cesarean as an added qualifier for composite adverse outcome showed higher body mass index, short stature (< 157 cm), not of Chinese ethnicity, no prior vaginal delivery, prior cesarean indicated by labor dystocia, and less favorable Bishop score (< 6) were independent predictors of the expanded composite adverse outcome.
CONCLUSION
Shorter women and IOLAC by vaginal dinoprostone compared to Foley balloon were independently predictive of composite of adverse outcome.
Topics: Humans; Female; Pregnancy; Labor, Induced; Retrospective Studies; Adult; Dinoprostone; Vaginal Birth after Cesarean; Infant, Newborn; Oxytocics; Administration, Intravaginal; Pregnancy Outcome; Cesarean Section; Malaysia; Risk Factors
PubMed: 38951754
DOI: 10.1186/s12884-024-06650-5 -
Nature Food Jul 2024Healthy dietary patterns, such as the alternate Mediterranean diet and alternate Healthy Eating Index, benefit cardiometabolic health. However, several food components...
Healthy dietary patterns, such as the alternate Mediterranean diet and alternate Healthy Eating Index, benefit cardiometabolic health. However, several food components of these dietary patterns are primary sources of environmental chemicals. Here, using data from a racially and ethnically diverse US cohort, we show that healthy dietary pattern scores were positively associated with plasma chemical exposure in pregnancy, particularly for the alternate Mediterranean diet and alternate Healthy Eating Index with polychlorinated biphenyls and per- and poly-fluoroalkyl substances. The associations appeared stronger among Asian and Pacific Islanders. These findings suggest that optimizing the benefits of a healthy diet requires concerted regulatory efforts aimed at lowering environmental chemical exposure.
PubMed: 38951691
DOI: 10.1038/s43016-024-01013-x -
Hypertension Research : Official... Jul 2024Pregnancy-induced hypertension (PIH), a prominent determinant of maternal mortality and morbidity worldwide, is hindered by the absence of efficacious biomarkers for...
Pregnancy-induced hypertension (PIH), a prominent determinant of maternal mortality and morbidity worldwide, is hindered by the absence of efficacious biomarkers for early diagnosis, contributing to suboptimal outcomes. Here, we explored potential causal relationships between blood metabolites and the risk of PIH using Mendelian randomization (MR). We employed a two-sample univariable MR approach to empirically estimate the causal relationships between 249 circulating metabolites and PIH. Inverse variance weighted, MR-egger, weight median, simple mode, and weighted mode methods were used for causal estimates. The exposure-to-outcome directionality was confirmed with the MR Steiger test. The Bayesian model averaging MR (MR-BMA) method was applied to detect the predominant causal metabolic traits with alignment for pleiotropy effects. In the primary analysis, analyzing 249 metabolites, we identified 25 causally linked to PIH, including 11 lipid-related traits and 6 associated with fatty acid (un)saturation. Importantly, MR-BMA analyses corroborated the total concentration of branched-chain amino acids(total-BCAA) to be the highest rank causal metabolite, followed by leucine (Leu), phospholipids to total lipids ratio in medium LDL (M-LDL-PL-pct), and Val (all P < 0.05). The directionality of causality predicted by univariable MR and MR-BMA for these metabolites remained consistent. This study highlights the causal connection between metabolites and PIH risk. It highlighted BCAAs as the strongest causal candidates warranting further investigation. Since PIH typically occurs in the second and third trimesters, extending these findings could inform earlier strategies to reduce its risk. Directed acyclic graph of the MR framework investigating the causal relationship between metabolites and PIH. MR: Mendelian randomization; GIVs: genetic instrument variables; SNPs: single-nucleotide polymorphism; IVW: inverse variance weighted; WM: weighted median; PIH: pregnancy-induced hypertension; SM: significant metabolite; MR-BMA: Bayesian model averaging MR.
PubMed: 38951678
DOI: 10.1038/s41440-024-01787-4 -
Scientific Reports Jul 2024Globally, depression is a major mental health problem among expectant fathers. Therefore, factors associated with paternal depressive symptoms (PDS) need investigation....
Globally, depression is a major mental health problem among expectant fathers. Therefore, factors associated with paternal depressive symptoms (PDS) need investigation. This hospital-based cross-sectional study was aimed to investigate the prevalence of and factors associated with PDS among expectant fathers in a northeastern province of Thailand. In the north-eastern province, Sakon Nakhon, 440 expectant fathers from eight hospitals participated in the study by completing a questionnaire related to socio-demographic characteristics, the Edinburgh Postnatal Depression Scale (EPDS), psychosocial factors and social support. An EPDS score of at least eleven out of 30 was interpreted as having PDS. Multivariable linear regression analysis was applied with a statistical significance at 0.05, and the coefficient β was presented. In total, 81 expectant fathers (18.4%, 95% confidence interval 14.6-22.3) had PDS, and the mean (standard deviation) of the EPDS score was 6.65 (4.25). Insufficient money (β = - 0.099, p = 0.016), marital adjustment (β = - 0.098, p = 0.027), self-esteem (β = - 0.150, p < 0.001), wife's stress (β = 0.079, p = 0.049), and expectant father's stress (β = 0.400, p < 0.001) were factors independently associated with PDS. In conclusion, screening expectant fathers during the pregnancy period of their wives is essential, and factors associated with PDS should not be neglected by healthcare providers. Also, there is need of an intervention program to prevent the symptoms, especially for expectant fathers having insufficient money or having stress.
Topics: Humans; Thailand; Fathers; Male; Adult; Depression; Cross-Sectional Studies; Female; Prevalence; Surveys and Questionnaires; Pregnancy; Social Support; Risk Factors; Young Adult
PubMed: 38951649
DOI: 10.1038/s41598-024-65997-z -
Scientific Reports Jun 2024Fetal alcohol spectrum disorders (FASD) are a severe developmental condition resulting from exposure to alcohol during pregnancy. The aim of this study was to examine...
Fetal alcohol spectrum disorders (FASD) are a severe developmental condition resulting from exposure to alcohol during pregnancy. The aim of this study was to examine the concentrations of hormones involved in appetite regulation-ghrelin, leptin, and putative peptide YY-3 (PYY)-in the serum of individuals with FASD. Additionally, we investigated the relationship between these hormone levels and clinical indicators. We conducted an enzyme-linked immunosorbent assay on samples collected from 62 FASD patients and 23 individuals without the condition. Our results revealed a significant decrease in leptin levels among FASD patients compared to the control group (5.124 vs. 6.838 ng/mL, p = 0.002). We revealed no statistically significant differences in the levels of other hormones studied (ghrelin and PYY). Comparisons of hormone levels were also conducted in three subgroups: FAS, neurobehavioral disorders associated with prenatal alcohol exposure and FASD risk, as well as by sex. Assignment to FASD subgroups indicated changes only for leptin. Sex had no effect on the levels of hormones. Moreover, the levels of leptin showed a negative correlation with cortisol levels and a positive correlation with BMI and proopiomelanocortin. Alterations in appetite regulation can contribute to the improper development of children with FASD, which might be another factor that should be taken into consideration in the proper treatment of patients.
Topics: Humans; Leptin; Fetal Alcohol Spectrum Disorders; Female; Ghrelin; Male; Peptide YY; Pregnancy; Child; Adult; Case-Control Studies; Child, Preschool
PubMed: 38951515
DOI: 10.1038/s41598-024-66052-7 -
Tropical Animal Health and Production Jun 2024To predict the sex of the foetus, healthy pregnant dromedary camels (n = 24) were included. Blood samples were collected for measurements of progesterone, estradiol,...
To predict the sex of the foetus, healthy pregnant dromedary camels (n = 24) were included. Blood samples were collected for measurements of progesterone, estradiol, testosterone, and cortisol as well as total proteins, albumin, glucose, creatinine, blood urea nitrogen, phosphorus, calcium, creatine kinase, alanine aminotransferase (ALT), aspartate transaminase (AST), alkaline phosphatase (ALP), gamma glutamyl transpeptidase (GGT), calcium, phosphorus, and magnesium. Statistical analysis revealed differences between pregnant camels and pregnant camels in terms of female or male foetuses depending on the actual sex of the born calf. The results revealed that testosterone and ALP concentrations were significantly (P < 0.001) greater in camels given to males than in those given to calves. There were strong positive correlations between male calf birth and testosterone and ALP concentrations (r = 0.864; P < 0.0001 and r = 0.637; P < 0.001, respectively). On the other hand, the cortisol, glucose and creatinine concentrations were significantly lower (P lower in camel calved males than in females). There were significant negative correlations between male calf birth and the cortisol, glucose and creatinine concentrations (r =-0.401; P = 0.052; r =-0.445; P = 0.029 and r =-0.400; P = 0.053, respectively). The concentrations of calcium, phosphorus, calcium/phosphorus ratio, magnesium, and albumin and the albumin/globulin ratio were not significantly different (P > 0.05) between the two groups. In conclusion, testosterone could be used as a biomarker to determine the sex of foetuses in dromedary camels.
Topics: Animals; Camelus; Female; Male; Pregnancy; Sex Determination Analysis; Hydrocortisone; Testosterone; Creatinine; Fetus; Estradiol; Gonadal Steroid Hormones
PubMed: 38951353
DOI: 10.1007/s11250-024-04053-4 -
Maternal and Child Health Journal Jun 2024Suicide attempts (SA) during perinatal period have the potential to adversely affect a woman's health and her developing infant. To date, little is known about perinatal... (Review)
Review
PURPOSE
Suicide attempts (SA) during perinatal period have the potential to adversely affect a woman's health and her developing infant. To date, little is known about perinatal SA and their risk factors. This study aimed to synthetize the evidence on risk factors of SA in pregnant and postpartum women.
METHODS
We systematically reviewed studies retrieved from PubMed/Medline, PsycINFO, and CINAHL, following the PRISMA guidelines for reporting. A meta-analysis was conducted only for risk factors examined in at least three distinct samples.
RESULTS
A total of ten studies were eligible for inclusion. All the studies found significant associations in regression models between perinatal SA and other variables (sociodemographic, clinical factors obstetric, neonatal, and psychosocial). The meta-analysis showed that unmarried women (pooled OR = 1.87, 95% CI = 1.26-2.78), with no higher education (pooled OR = 1.89, 95% CI = 1.31-2.74) and affected by a mood disorder (pooled OR = 11.43, 95% CI = 1.56-83.87) have a higher risk of postpartum SA; women who smoke during pregnancy (pooled OR = 3.87, 95% CI = 1.35-11.11) have a higher risk of SA in pregnancy; and women with previous suicidal behavior(pooled OR = 38.04, 95% CI = 3.36-431.17) have a higher risk of perinatal SA, whether during pregnancy or in the postpartum period. The type of sample, whether community or clinical, is a relevant moderating factor.
CONCLUSION
Our study extends prior reviews about suicidal behaviors in women by studying perinatal suicide attempts independently, as well as it synthesized data on some sociodemographic, clinical, and obstetric/neonatal risk factors. Further studies about specific risk factors for perinatal SA are needed in order to improve early detection and intervention of women at risk.
PubMed: 38951296
DOI: 10.1007/s10995-024-03956-w -
Archives of Gynecology and Obstetrics Jul 2024Obesity surgery and polycystic ovary syndrome (PCOS) are both associated with increased risk of intrauterine growth restriction. We investigated whether offspring of...
PURPOSE
Obesity surgery and polycystic ovary syndrome (PCOS) are both associated with increased risk of intrauterine growth restriction. We investigated whether offspring of mothers with PCOS who underwent obesity surgery had an increased risk of deviating birth anthropometrics compared to offspring of mothers without PCOS.
METHODS
In this observational study, data from two study databases (BAROBS and PregMet2) were supplemented with data from patient's records from secondary and tertiary hospitals. In total, 162 offspring born to mothers with PCOS (n = 48) and without PCOS (n = 114) were included. Forty-nine offspring were born prior to, and 113 after obesity surgery.
RESULTS
Mean ± SD birthweight (BW), birth length (BL), and head circumference (HC) before and after surgery for offspring born to mothers with PCOS were 3987 ± 495 g vs 3396 ± 526 g (P = 0.001), 52.2 ± 1.6 cm vs 50.1 ± 2.2 cm (P = 0.010), and 36.3 ± 1.97 cm vs 35.3 ± 1.66 cm (P = 0.183), respectively. In the non-PCOS group BW, BL and HC before and after were 3859 ± 603 g vs 3490 ± 538 g (P = 0.001), 51.3 ± 2.0 cm vs 49.9 ± 2.5 cm (P = 0.013), and 36.4 ± 2.0 cm vs 35.3 ± 1.8 cm (P = 0.016), respectively. Post-surgery, we found no difference in z-score BW, (∆-0.08, P = 0.677), BL (∆0.21, P = 0.184), and HC (∆0.14, P = 0.476) between children of PCOS and non-PCOS mothers.
COMCLUSION
Babies born after obesity surgery were smaller and shorter in both the PCOS and non-PCOS group. Post-surgery anthropometrics were similar in babies born to mothers with and without PCOS.
PubMed: 38951260
DOI: 10.1007/s00404-024-07593-0 -
Archives of Gynecology and Obstetrics Jul 2024To assess the risk of adverse obstetric and perinatal outcomes in subsequent pregnancies among women with a history of recurrent pregnancy loss (RPL).
PURPOSE
To assess the risk of adverse obstetric and perinatal outcomes in subsequent pregnancies among women with a history of recurrent pregnancy loss (RPL).
METHODS
Relevant studies were identified by searching the PubMed, Web of Science, and Embase databases. The pooled effect sizes were reported as odds ratios (OR) with their respective 95% confidence intervals (95% CI), and data analysis was performed using the random effects model.
RESULTS
A total of 26 studies involving 4,730,728 women were included in this meta-analysis. The results reveal a significant increase in the prevalence of placenta accreta cases after RPL compared to women without RPL (pooled OR 4.04; 95% CI 1.16-14.15; 2 studies; I = 94%; P = 0.03). However, no elevated risk of aneuploidies (pooled OR 1.69, 95% CI 0.73-3.90; 5 studies; I = 48%; P = 0.22) or congenital anomalies (pooled OR 1.12, 95% CI 0.97-1.30; 7 studies; I = 13%; P = 0.12) in subsequent pregnancies of women with RPL was observed. Additionally, a moderate increase in the risk of various other obstetric and perinatal outcomes was found. The magnitude of the elevated risk of these adverse outcomes varied depending on the region.
CONCLUSIONS
Women with a history of RPL exhibit a significantly elevated risk of placenta accreta in subsequent pregnancies, along with a moderate increase in the risk of various other adverse obstetric and perinatal outcomes. However, RPL does not signify an increased risk of aneuploidies or congenital anomalies in a consecutive pregnancy.
PubMed: 38951259
DOI: 10.1007/s00404-024-07604-0