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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 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 -
Journal of Perinatal Medicine May 2024To identify factors associated with poor prognoses in newborns with a prenatal diagnosis of gastroschisis in eight hospitals in Bogota, Colombia, from 2011 to 2022.
OBJECTIVES
To identify factors associated with poor prognoses in newborns with a prenatal diagnosis of gastroschisis in eight hospitals in Bogota, Colombia, from 2011 to 2022.
METHODS
A multi-center retrospective case-control study was conducted on newborns with gastroschisis in eight hospitals in Bogota, Colombia. Poor prognosis was defined as the presence of sepsis, intestinal complications, or death.
RESULTS
The study included 101 patients. Preterm newborns under 32 weeks had a poor neonatal prognosis (OR 6.78 95 % CI 0.75-319). Oligohydramnios (OR 4.95 95 % CI 1.15-21.32) and staged closure with silo (OR 3.48; 95 % CI 1.10-10.96) were risk factors for neonatal death, and intra-abdominal bowel dilation of 20-25 mm was a factor for the development of intestinal complications (OR 3.22 95 % CI 1.26-8.23).
CONCLUSIONS
Intra-abdominal bowel dilation between 20 and 25 mm was associated with intestinal complications, while oligohydramnios was associated with the risk of perinatal death, requiring increased antenatal surveillance of fetal wellbeing. Management with primary reduction when technically feasible is recommended in these infants, considering that the use of silos was associated with higher mortality.
PubMed: 38758017
DOI: 10.1515/jpm-2023-0520 -
Cureus May 2024Autosomal recessive polycystic kidney disease (ARPKD) is caused by a mutation in the polycystic kidney and hepatic disease-1 (PKHD1) gene and is an important inherited...
Autosomal recessive polycystic kidney disease (ARPKD) is caused by a mutation in the polycystic kidney and hepatic disease-1 (PKHD1) gene and is an important inherited cause of chronic kidney disease in children. The most typical presentations in neonates are massively enlarged kidneys with variable echogenicity, multiple small cysts, and congenital hepatic fibrosis. Potter sequence with pulmonary hypoplasia can present due to oligohydramnios. Severe pulmonary hypoplasia can lead to respiratory insufficiency and perinatal death. Some affected children can develop end-stage renal disease in early childhood or adolescence. Here, we report the clinical presentations, management, and renal outcomes of three neonatal cases of ARPKD from our center.
PubMed: 38854310
DOI: 10.7759/cureus.59993 -
Fetal Diagnosis and Therapy 2024The aim of this study was to examine the efficacy of pneumatic compression of the maternal lower extremities in increasing the amniotic fluid index (AFI) in pregnancies...
INTRODUCTION
The aim of this study was to examine the efficacy of pneumatic compression of the maternal lower extremities in increasing the amniotic fluid index (AFI) in pregnancies complicated by isolated oligohydramnios.
METHODS
Women with isolated oligohydramnios (AFI <5 cm) at 32-41 weeks of pregnancy were connected to a sequential compression device for 60 min. Prior and after the application, AFI and the pulsatility index (PI) of a number of arteries were measured.
RESULTS
The median (interquartile range) maternal age of the 21 women included was 29 years (26.50-32.00), the median parity was 1 (1-2), and the median gestational age at intervention was 37.60 weeks (37.00-39.40). The median AFI increased after the application from 4.00 (3.62-4.50) to 6.08 cm (4.90-7.03) (p < 0.001). The median PI of the fetal renal artery decreased from 2.30 (2.01-2.88) to 2.26 (1.68-2.71) (p = 0.01). The hourly fetal urine production did not increase. Changes were not significant in the PI of the umbilical artery, the middle cerebral artery, and the bilateral uterine arteries.
CONCLUSION
Short-term activation of pneumatic compression on maternal lower extremities could increase the AFI in women with isolated oligohydramnios.
Topics: Pregnancy; Female; Humans; Adult; Infant; Amniotic Fluid; Oligohydramnios; Fetal Blood; Pregnancy Trimester, Third; Renal Artery; Perfusion
PubMed: 37903468
DOI: 10.1159/000534816 -
Frontiers in Medicine 2023The aim was to investigate gestational age at birth of women after induction of fetal lung maturation (antenatal corticosteroids = ACS) because of imminent preterm...
BACKGROUND
The aim was to investigate gestational age at birth of women after induction of fetal lung maturation (antenatal corticosteroids = ACS) because of imminent preterm birth (PTB), and to quantify incidence of late PTB (gestational age < 260 days) and extreme immaturity (gestational age < 196 days) in relation to several diagnoses (PPROM, placental bleeding, premature labor, preeclampsia, oligohydramnios, amniotic infection syndrome (AIS), cervical insufficiency) and risk factors (age > 35, history of preterm delivery, multifetal gestation, gestational diabetes, hypertension, nicotine abuse).
METHODS
The study was designed as a retrospective cohort trial, in which the data of all births taking place in 2016 in the German federal state Rhineland-Palatinate were evaluated. Frequency analyses, subgroup analysis (Chi-square tests and Friedman's tests), as well as multinomial logistic regressions and linear regressions were used to determine odds ratios (OR).
RESULTS
In total, = 1,544 patients were included who had been hospitalized due to an imminent PTB and had received ACS, of whom 52% had a late PTB and 8% a PTB with extreme immaturity. Regarding the gestational age at birth, there were only minor differences between the individual risk factors and diagnoses, only AIS patients showed a significantly lower gestational age (mean: 207 days). A significantly increased risk of PTB with extreme immaturity was found in patients with AIS (OR = 5.57) or placental bleeding (OR = 2.10).
CONCLUSION
There is a need for further research in order to be able to apply therapeutic measures more accurately in relation to risk factors and diagnoses.
PubMed: 38264055
DOI: 10.3389/fmed.2023.1285306 -
Journal of Clinical Epidemiology Jan 2024To evaluate the strength of the evidence for, and the extent of, overdiagnosis in noncancer conditions.
OBJECTIVES
To evaluate the strength of the evidence for, and the extent of, overdiagnosis in noncancer conditions.
STUDY DESIGN AND SETTING
We systematically searched for studies investigating overdiagnosis in noncancer conditions. Using the 'Fair Umpire' framework to assess the evidence that cases diagnosed by one diagnostic strategy but not by another may be overdiagnosed, two reviewers independently identified whether a Fair Umpire-a disease-specific clinical outcome, a test result or risk factor that can determine whether an additional case does or does not have disease-was present. Disease-specific clinical outcomes provide the strongest evidence for overdiagnosis, follow-up or concurrent tests provide weaker evidence, and risk factors provide only weak evidence. Studies without a Fair Umpire provide the weakest evidence of overdiagnosis.
RESULTS
Of 132 studies, 47 (36%) did not include a Fair Umpire to adjudicate additional diagnoses. When present, the most common Umpire was a single test or risk factor (32% of studies), with disease-specific clinical outcome Umpires used in only 21% of studies. Estimates of overdiagnosis included 43-45% of screen-detected acute abdominal aneurysms, 54% of cases of acute kidney injury, and 77% of cases of oligohydramnios in pregnancy.
CONCLUSION
Much of the current evidence for overdiagnosis in noncancer conditions is weak. Application of the framework can guide development of robust studies to detect and estimate overdiagnosis in noncancer conditions, ultimately informing evidence-based policies to reduce it.
Topics: Female; Pregnancy; Humans; Medical Overuse; Overdiagnosis; Risk Factors
PubMed: 37952702
DOI: 10.1016/j.jclinepi.2023.11.005 -
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 -
BMC Pregnancy and Childbirth Feb 2024To date, there are no clinical guidelines for dichorionic diamniotic (DCDA) twins complicated with previable premature rupture of membrane (PV-ROM) before 24 weeks of...
Selective feticide in dichorionic diamniotic (DCDA) twins complicated with previable premature rupture of membrane before 24 weeks may be a safe therapeutic alternative to ongoing pregnancy.
BACKGROUND
To date, there are no clinical guidelines for dichorionic diamniotic (DCDA) twins complicated with previable premature rupture of membrane (PV-ROM) before 24 weeks of gestation. The typical management options including expectant management and/or pregnant termination, induce the risks of fetal mortality and morbidity.
OBJECTIVE
To explore the feasibility selective feticide in DCDA twins complicated with PV-ROM.
STUDY DESIGN
A Retrospective cohort study, enrolling 28 DCDA twins suffering from PV-ROM in a tertiary medical center from Jan 01 2012 to Jan 01 2022. The obstetric outcome was compared between selective feticide group and expectant management group.
RESULTS
There were 12 cases managed expectantly and 16 underwent selective feticide. More cases suffered from oligohydramnios in expectant management group compared to selective feticide group (P = 0.008). Among 13 cases with ROM of upper sac, the mean gestational age at delivery was (33.9 ± 4.9) weeks in the selective feticide group, which was significantly higher than that in the expectant management (P = 0.038). Five fetuses (83.3%) with selective feticide delivered after 32 weeks, whereas only one (14.3%) case in expectant management group (P = 0.029). However, in the subgroup with ROM of lower sac, no significant difference of the mean gestation age at delivery between groups and none of cases delivered after 32 weeks.
CONCLUSION
There was a trend towards an increase in latency interval in DCDA twins with PV-ROM following selective feticide, compared to that with expectant management. Furthermore, selective feticide in cases with PV-ROM of upper sac has a favorable outcome.
Topics: Female; Pregnancy; Humans; Infant; Pregnancy Outcome; Retrospective Studies; Pregnancy Reduction, Multifetal; Twins, Dizygotic; Abortion, Induced; Fetal Membranes, Premature Rupture; Pregnancy, Twin
PubMed: 38408929
DOI: 10.1186/s12884-024-06361-x -
Radiology Case Reports May 2024Etiologies underlying the relatively infrequent third-trimester sonographic depiction of dilated fetal bowel include (functional or mechanical) bowel obstruction,...
Etiologies underlying the relatively infrequent third-trimester sonographic depiction of dilated fetal bowel include (functional or mechanical) bowel obstruction, intestinal atresia, volvulus, annular pancreas, intestinal malrotation, intussusception, gastrointestinal duplications, cystic fibrosis-associated meconium ileus, congenital chloride diarrhea, microvillus inclusion disease, intestinal neuronal dysplasia, and meconium plug syndrome. Fetal bowel obstruction may be associated with aneuploidy (mostly Trisomy 21 in association with esophageal or duodenal atresia), and rarely select microduplications or deletions. We present unusual sonographic findings associated with transient marked proximal fetal bowel dilatation in association with concurrent development of oligohydramnios, in a growth-restricted fetus at 35 weeks' gestation. This case supports that upon observation of dilated loops of fetal bowel, while not negating the potential need for delivery secondary to potential bowel compromise, consideration should be given for observation in anticipation of potential spontaneous resolution of this condition, especially among growth-restricted fetuses with decreased amniotic fluid volume in prematurity.
PubMed: 38384702
DOI: 10.1016/j.radcr.2024.01.069