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Health Science Reports Mar 2024Congenital lower urinary tract obstruction (LUTO) describes a heterogeneous group of congenital malformations. Posterior urethral valves (PUV) represent the most common...
BACKGROUND
Congenital lower urinary tract obstruction (LUTO) describes a heterogeneous group of congenital malformations. Posterior urethral valves (PUV) represent the most common entity. Familial occurrence has been described, suggestive of underlying genetic factors. LUTO can occur in various degrees of severity. In severe forms, oligohydramnios, pulmonary hypoplasia, and renal damage can occur resulting in high pre- and postnatal mortality. On the contrary, mild forms may become apparent through recurrent urinary tract infections. Such high phenotypic variability has been described even within the same family. Here, we systematically screened parents of affected children for symptoms of LUTO.
METHODS
The study population consisted of parents of LUTO patients. Fathers over 50 years of age were excluded, to avoid inclusion of male phenocopies due to early prostatic hypertrophy. Uroflowmetry, ultrasonography for residual urine and hydronephrosis, and laboratory examination of standard renal retention parameters were assessed, and a detailed patient history was taken, including the assessment of the International Prostate Symptom Score.
RESULTS
Twenty-nine of 42 LUTO families enrolled were found eligible for the present study. Of these, we identified five families in which the father had already been diagnosed with infravesical obstruction (17%). Of the remaining families, nine agreed to participate in our study. Of these nine families, eight families had a child affected with PUV and one family had a child with urethral stenosis. Here, we found two fathers and one mother with symptoms of LUTO suggestive of mild LUTO and one family, in which the unborn male fetal brother of the affected index patient was also diagnosed prenatally with LUTO.
CONCLUSION
Our observations suggest that LUTOs have a higher heritability than previously thought and that first-degree relatives of the affected should be clinically assessed for symptoms of LUTO.
PubMed: 38524771
DOI: 10.1002/hsr2.1935 -
Journal of Global Health Mar 2024China's fertility policy has dramatically changed in the past decade with the successive promulgation of the partial two-child policy, universal two-child policy and...
BACKGROUND
China's fertility policy has dramatically changed in the past decade with the successive promulgation of the partial two-child policy, universal two-child policy and three-child policy. The trajectories of maternal and neonatal health accompanied the changes in fertility policy are unknown.
METHODS
We obtained data of 280 203 deliveries with six common pregnancy complications and thirteen perinatal outcomes between 2010 and 2021 in eastern China. The average annual percent change (AAPC) was calculated to evaluated the temporal trajectories of obstetric characteristics and adverse outcomes during this period. Then, the autoregressive integrated moving average (ARIMA) models were constructed to project future trend of obstetric characteristics and outcomes until 2027.
RESULTS
The proportion of advanced maternal age (AMA), assisted reproduction technology (ART) treatment, gestational diabetes mellitus (GDM), anaemia, thrombocytopenia, thyroid dysfunction, oligohydramnios, placental abruption, small for gestational age (SGA) infants, and congenital malformation significantly increased from 2010 to 2021. However, the placenta previa, large for gestational age (LGA) infants and stillbirth significantly decreased during the same period. The AMA and ART treatment were identified as independent risk factors for the uptrends of pregnancy complications and adverse perinatal outcomes. The overall caesarean section rate remained above 40%. Importantly, among multiparas, a previous caesarean section was found to be associated with a significantly reduced risk of hypertensive disorders of pregnancy (HDP), premature rupture of membranes (PROM), placenta previa, placental abruption, perinatal asphyxia, LGA infants, stillbirths, and preterm births. In addition, the ARIMA time series models predicted increasing trends in the ART treatment, GDM, anaemia, thrombocytopenia, postpartum haemorrhage, congenital malformation, and caesarean section until 2027. Conversely, a decreasing trend was predicted for HDP, PROM, and placental abruption premature, LGA infants, SGA infants, perinatal asphyxia, and stillbirth.
CONCLUSIONS
Maternal and neonatal adverse outcomes became more prevalent from 2010 to 2021 in China. Maternal age and ART treatment were independent risk factors for adverse obstetric outcomes. The findings offered comprehensive trajectories for monitoring pregnancy complications and perinatal outcomes in China, and provided robust intervention targets in obstetric safety. The development of early prediction models and the implementation of prevention efforts for adverse obstetric events are necessary to enhance obstetric safety.
Topics: Female; Humans; Infant, Newborn; Pregnancy; Abruptio Placentae; Anemia; Asphyxia; Cesarean Section; Cross-Sectional Studies; Infant Health; Placenta; Placenta Previa; Pregnancy Complications; Pregnancy Outcome; Premature Birth; Retrospective Studies; Stillbirth; Thrombocytopenia
PubMed: 38515427
DOI: 10.7189/jogh.14.04069 -
Cureus Feb 2024Prenatal congenital inguinal hernia is a rare condition, with limited cases reported in the literature. Accurate prenatal diagnosis is crucial for appropriate management...
Prenatal congenital inguinal hernia is a rare condition, with limited cases reported in the literature. Accurate prenatal diagnosis is crucial for appropriate management and outcomes. We report a case of a 44-year-old woman at 36 weeks of gestation with well-controlled gestational diabetes diagnosed with prenatal congenital inguinal hernia. The patient's antenatal history included abnormal first-trimester screening tests for Down syndrome, but subsequent amniocentesis revealed no chromosomal abnormalities. Ultrasonography at 36 weeks showed an enlarged right scrotum with heterogeneous consistency and visible bowel peristaltic waves without signs of bowel obstruction, strangulation, or incarceration. At 39 weeks, oligohydramnios was diagnosed, leading to a decision for labor induction. However, the patient underwent a cesarean section upon her desire, giving birth to a male infant with congenital inguinal hernia. Both mother and child had a normal six-month postpartum follow-up. This case underscores the significance of detailed third-trimester ultrasonography in diagnosing prenatal congenital inguinal hernia. Early detection allows for better planning and management, highlighting the value of routine prenatal assessments for fetal organ status and early identification of malformations.
PubMed: 38500935
DOI: 10.7759/cureus.54356 -
Biomedical Reports Apr 2024Non-invasive maternal cell-free fetal DNA (cffDNA) is a promising biomarker for screening common genetic syndromes. Alterations in the expression levels of cffDNA in the...
Non-invasive maternal cell-free fetal DNA (cffDNA) is a promising biomarker for screening common genetic syndromes. Alterations in the expression levels of cffDNA in the maternal circulation have been demonstrated in abnormal pregnancies. However, the results are conflicting. The present study aimed to investigate whether cffDNA levels are associated with pregnancy complications. The study group comprised pregnant women who presented with pregnancy complications, such as preterm birth, gestational hypertension, intrauterine growth retardation, gestational diabetes, polyhydramnios, oligohydramnios, vaginal bleeding and placental abruption. The control group comprised women who had a normal pregnancy course. Blood samples were obtained from 500 pregnant women between 11-13 weeks of gestation. cffDNA was amplified, sequenced and analyzed using the next-generation aneuploidy test of a Panorama-Natera kit. Nuchal translucency (NT) thickness as well as pregnancy associated plasma protein-A (PAPP-A) and β-human chorionic gonadotropin (β-hCG) levels were also assessed. Statistical analysis was performed in 494 out of the 500 samples collected with SPSS v.26 using non-parametric methods. The parameters were normalized by the multiples of median (MoM) method. The expression levels of PAPP-A, β-hCG, and the NT mean MoM values were significantly different between the study and control groups (P=0.005, P<0.001 and P=0.007, respectively). However, the expression levels of cffDNA and the mean MoM values were not significantly different between these two groups (P=0.687). The findings of the present study support the conclusion that cffDNA expression is not altered in a series of pregnancy complications. The prognostic value of cffDNA in predicting adverse pregnancy outcomes requires further investigation.
PubMed: 38495346
DOI: 10.3892/br.2024.1757 -
The Journal of Clinical Investigation Jan 2024Premature birth disrupts normal lung development and places infants at risk for bronchopulmonary dysplasia (BPD), a disease disrupting lung health throughout the life of...
Premature birth disrupts normal lung development and places infants at risk for bronchopulmonary dysplasia (BPD), a disease disrupting lung health throughout the life of an individual and that is increasing in incidence. The TGF-β superfamily has been implicated in BPD pathogenesis, however, what cell lineage it impacts remains unclear. We show that TGFbr2 is critical for alveolar epithelial (AT1) cell fate maintenance and function. Loss of TGFbr2 in AT1 cells during late lung development leads to AT1-AT2 cell reprogramming and altered pulmonary architecture, which persists into adulthood. Restriction of fetal lung stretch and associated AT1 cell spreading through a model of oligohydramnios enhances AT1-AT2 reprogramming. Transcriptomic and proteomic analyses reveal the necessity of TGFbr2 expression in AT1 cells for extracellular matrix production. Moreover, TGF-β signaling regulates integrin transcription to alter AT1 cell morphology, which further impacts ECM expression through changes in mechanotransduction. These data reveal the cell intrinsic necessity of TGF-β signaling in maintaining AT1 cell fate and reveal this cell lineage as a major orchestrator of the alveolar matrisome.
Topics: Humans; Mice; Animals; Infant, Newborn; Receptor, Transforming Growth Factor-beta Type II; Pulmonary Alveoli; Transforming Growth Factor beta; Mechanotransduction, Cellular; Proteomics; Alveolar Epithelial Cells; Lung; Cell Differentiation; Extracellular Matrix; Bronchopulmonary Dysplasia; Transcription, Genetic
PubMed: 38488000
DOI: 10.1172/JCI172095 -
Cureus Feb 2024The renin-angiotensin-aldosterone system (RAAS) plays a crucial role in the normal development of the fetal kidney. Late pregnancy blockage of the RAAS, through in-utero...
The renin-angiotensin-aldosterone system (RAAS) plays a crucial role in the normal development of the fetal kidney. Late pregnancy blockage of the RAAS, through in-utero exposure to angiotensin-converting enzyme inhibitors (ACEIs) or angiotensin II receptor blockers, is associated with poor fetal outcomes, including oligohydramnios, renal tubular dysplasia, postnatal anuric renal failure, and hypotension. The present case describes a 39-year-old primigravida that was referred to the emergency department, at 37 weeks, for the evaluation of intrauterine growth restriction and suspected coarctation of the aorta (CoA). She was medicated with enalapril since the 35th week of gestation. She delivered a male infant, weighing 2,110 g, with no apparent malformations. CoA was excluded. During his first day of life, the patient developed anuria, acute renal failure, and hypotension, requiring ionotropic support. Renal ultrasound appeared normal. Diuresis was reinitiated at 48 hours of life after continued supportive measures. Kidney function tests progressively normalized. Additional investigations revealed a low concentration of angiotensin-converting enzyme. The patient is currently 12 months old and has had a favorable evolution. This case highlights the fact that even brief exposure to enalapril in the third trimester may cause RAAS blocker fetopathy. As long-term sequelae of ACEI-exposed infants are poorly described, close follow-up of renal complications is essential. Physicians should be aware of the deleterious effects of RAAS blockers in pregnancy.
PubMed: 38465020
DOI: 10.7759/cureus.53833 -
Journal of Diabetes Investigation Jul 2024A debate exists on the relation of adverse pregnancy outcomes with glycemic levels in early pregnancy. We aimed to investigate the association of maternal...
AIMS/INTRODUCTION
A debate exists on the relation of adverse pregnancy outcomes with glycemic levels in early pregnancy. We aimed to investigate the association of maternal characteristics including post-load glucose and first-trimester HbA1c test results with adverse pregnancy outcomes in women without gestational diabetes mellitus.
MATERIALS AND METHODS
A dataset (January 2011 and September 2017) from a hospital prenatal clinic was explored to find the important predictors of adverse pregnancy outcomes using maternal characteristics and glucose assessments in mothers without gestational diabetes. We used two machine learning algorithms to capture nonlinearity in selecting important maternal characteristics and developed predictive models for each outcome. In total, 1,618 pregnant women were included in the analytic dataset with a mean (SD) age of 26.8 (3.5) years and gravida of 1.7 (0.9).
RESULTS
Important associations were detected between maternal features and primary cesarean section, fetal distress, premature rupture of membranes, macrosomia, small or large for gestational age, APGAR <7 at 1 or 5 min, hyperbilirubinemia, and poly- or oligo-hydramnios. Overall, the predictive models showed good performance and large areas under the curves (0.732, 0.765, 0.646, 0.651, 0.730, 0.646, 0.684, 0.716, and 0.678, respectively). Specifically, they had high positive likelihood ratios.
CONCLUSIONS
High glucose levels were associated with adverse pregnancy outcomes. Post-load glucose was the most reliable test for predicting the outcomes. Overall, fasting blood sugar was of more predictive value than HbA1c. Our study showed that further research should account for the nonlinearity and interactions inherent in the data.
Topics: Humans; Female; Pregnancy; Adult; Glycated Hemoglobin; Pregnancy Outcome; Blood Glucose; Pregnancy Trimester, First; Diabetes, Gestational; Biomarkers; Glucose Tolerance Test; Pregnancy Complications; Prognosis; Retrospective Studies; Young Adult
PubMed: 38456712
DOI: 10.1111/jdi.14181 -
Cureus Feb 2024Background Preterm birth before 37 weeks of gestation is a global public health challenge, particularly in India, where the prevalence varies regionally. Understanding...
Background Preterm birth before 37 weeks of gestation is a global public health challenge, particularly in India, where the prevalence varies regionally. Understanding risk factors, such as maternal age and complications like hypertensive disorders, is vital. India's diverse healthcare landscape and regional disparities further complicate this issue. Preterm infants face increased mortality and morbidity risks like respiratory distress and intraventricular hemorrhage. This study in a tertiary care hospital aimed to analyze risk factors, assess perinatal outcomes, and contribute to the understanding of preterm birth in this complex context, providing valuable insights for maternal and child health strategies. Methods This retrospective cohort study was conducted at the Venkateshwara Institute of Medical Science, Rajabpur, over one year, extracting data from electronic health records. The study aimed to analyze risk factors associated with preterm delivery and assess perinatal outcomes. The study included diverse pregnancies, both singleton and multiple gestations, and employed sample size calculations to ensure statistical validity. Trained medical personnel collected extensive data on maternal characteristics, obstetric history, antenatal care, perinatal outcomes, and mode of delivery. Statistical analysis, utilizing SPSS (IBM, Chicago, USA), involved descriptive statistics, comparative analysis, chi-square tests, t-tests, Mann-Whitney U tests, and multivariate logistic regression models. Findings with a p-value <0.05 were considered significant. Results The study included 2042 deliveries, with a preterm birth prevalence of 14.2%. Multiparous women had higher preterm birth rates than primigravida (72.92% vs. 27.08%). Maternal age, history of preterm delivery, hypertensive disorders, inadequate antenatal care compliance, previous cesarean section, multiple gestations, antepartum hemorrhage (APH), polyhydramnios, oligohydramnios, and premature rupture of membranes (PROM) were significantly associated with preterm birth. Apgar scores at one minute and five minutes, neonatal complications, and mortality rates were notably worse among preterm births. Vaginal delivery rates were significantly lower in the preterm group (36.3%) compared to full-term deliveries (48.8%), with a higher rate of emergency cesarean sections (19.7% vs. 10.8%). Conclusion This study provides valuable insights into the risk factors and perinatal outcomes of preterm delivery at a tertiary care hospital, with precise values illustrating the extent of associations. The findings such as history of preterm delivery, hypertensive disorders, and inadequate antenatal care compliance as the most commonly associated conditions with preterm birth and management of such associated conditions may help reduce the rate of premature birth.
PubMed: 38455809
DOI: 10.7759/cureus.53673 -
American Journal of Perinatology Mar 2024Oligohydramnios (defined as amniotic fluid volume < 5 cm or deepest vertical pocket < 2 cm) is regarded as an ominous finding on prenatal ultrasound....
OBJECTIVE
Oligohydramnios (defined as amniotic fluid volume < 5 cm or deepest vertical pocket < 2 cm) is regarded as an ominous finding on prenatal ultrasound. Amniotic fluid, however, is not static, and to date, there have been no studies comparing perinatal outcomes in patients who are diagnosed with oligohydramnios that resolves and those who have persistent oligohydramnios.
STUDY DESIGN
This is a secondary analysis of a National Institutes of Health-funded retrospective cohort study of singleton gestations delivered at a tertiary care hospital between 2002 and 2013 with mild hypertensive disorders and/or fetal growth restriction (FGR). Maternal characteristics, delivery, and neonatal information were abstracted by trained research nurses. Patients with a diagnosis of oligohydramnios were identified, and those with resolved versus persistent oligohydramnios at the time of delivery were compared. The primary outcome was a composite of neonatal resuscitation at delivery: administration of oxygen, bag-mask ventilation, continuous positive airway pressure, intubation, chest compression, or cardiac medication administration. Secondary outcomes included FGR, timing, and mode of delivery.
RESULTS
Of 527 women meeting study criteria, 42 had oligohydramnios that resolved prior to delivery, whereas 485 had persistent oligohydramnios. There were no significant differences in patient demographics between groups. The gestational age at diagnosis was significantly lower for patients with resolved versus persistent oligohydramnios (median: 33.0 [interquartile range, IQR: 29.1-35.9] vs. 38.0 [IQR: 36.4-39.3], < 0.001). There was not a substantial difference in rate of neonatal resuscitation (41 vs. 32%, = 0.31). Patients with resolved oligohydramnios were more likely to have developed FGR than those with persistent oligohydramnios (55 vs. 36%, < 0.02). There were no significant differences for gestational age at delivery, birth weight, or neonatal intensive care unit admission.
CONCLUSION
Patients whose oligohydramnios resolved were diagnosed earlier yet had similar rates of neonatal resuscitation but higher rates of FGR than those who had persistent oligohydramnios.
KEY POINTS
· When diagnosed earlier in pregnancy, oligohydramnios was more likely to resolve prenatally.. · Patients who were diagnosed with oligohydramnios earlier in pregnancy had higher rates of FGR.. · There were no differences in the rates of the composite outcome of need for neonatal resuscitation when comparing those with resolved versus those with persistent oligohydramnios. No differences in composite neonatal morbidity were noted between those with resolved versus persistent oligohydramnios..
PubMed: 38423121
DOI: 10.1055/a-2278-8948