[Concomitant extragenital malformations of female reproductive tract anomalies: analysis of 444 cases in Peking Union Medical College Hospital].

Objective: To analyze the incidence and clinical phenotype of the concomitant extragenital malformations in the patients with female reproductive tract anomalies. Methods: A retrospective study was conducted using clinical data of hospitalized patients diagnosed with uterine, cervical, or vaginal malformations from January 2003 to December 2022 in Peking Union Medical College Hospital. The malformations were classified according to American Society for Reproductive Medicine müllerian anomalies classification 2021, and in each type, the incidence and specific manifestations of concomitant extragnital malformations were analyzed. Results: A total of 444 patients were included. The overall incidence of concomitant extragenital malformations was 43.5% (193/444), including urinary system, skeletal system, and other system malformations. Renal malformations on the obstructed side were present in all patients with oblique vaginal septum syndrome (100.0%, 78/78). The total incidence of concomitant extragnital malformations was as high as 8/11 in uterus didelphys, 43.5% (10/23) in unicornuate uterus, 33.6% (79/235) in Mayer-Rokitansky-Küster-Hauser syndrome, 18.8% (6/32) in septate uterus and 18.5% (12/65) in cervical agenesis. Urinary system malformations (30.6%, 136/444) and skeletal system malformations (13.5%, 60/444) were the most common concomitant malformations in all types, in which, unilateral renal agenesis and scoliosis were the most common. Conclusions: Urinary and skeletal system malformations are important features of female reproductive tract anomalies. Urologic ultrasonography and spinal roentgenogram are recommended for all patients with female reproductive tract anomalies.

Neonatal jaundice is associated with increased risks of congenital anomalies of the kidney and urinary tract and concomitant urinary tract infection.

The link between neonatal jaundice and urinary tract infection (UTI) remains debated, with congenital kidney and urinary tract anomalies (CAKUT) potentially playing a role. This population-based study aimed to analyze the correlations between neonatal jaundice, CAKUT, and concomitant UTI. The study cohort consisted of 2,078,122 live births from 2004 to 2014. We linked several population-based datasets in Taiwan to identify infants with unexplained neonatal jaundice and their mothers. The primary outcome was the rate of CAKUT occurring within 3 years after delivery, and the presence of concomitant UTI during neonatal jaundice hospitalization. Infants with neonatal jaundice had a significantly higher risk of CAKUT (adjusted odds ratio [aOR] 1.24, 95% confidence interval [CI] 1.11-1.39) during early childhood. Among the subtypes of CAKUT, obstructive uropathy, vesicoureteral reflux and other CAKUT were associated with an increased risk of neonatal jaundice. Infants who underwent intensive phototherapy, had a late diagnosis (> 14 days of postnatal age) or underwent a prolonged duration of phototherapy (> 3 days) exhibited a higher risk of concomitant UTI compared to other infants with jaundice. Our findings indicate a notable association between neonatal jaundice and increased risks of UTIs in the context of CAKUT. This study underscore the importance of vigilant monitoring and timely interventions for neonates presenting with jaundice, while acknowledging the complexity and variability in the progression of CAKUT and its potential connection to UTIs.

Kidney and urogenital abnormalities in Down syndrome: a meta-analysis.

BACKGROUND: Reviews on Down syndrome do not or only marginally address the issue of kidney and urogenital tract abnormalities, and lower urinary tract dysfunctions. Hence, we performed a meta-analysis of the literature.  METHODS: A literature search was undertaken in the Library of Medicine, Web of Science and Excerpta Medica. The search algorithm combined various keywords: (Down syndrome OR trisomy 21 OR mongolism) AND (kidney OR urinary tract OR bladder) AND (malformation OR dysfunction OR anomaly OR abnormality OR size). The Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement was used. RESULTS: Eight case-control studies were retained for the final analysis. Three studies addressed the prevalence of kidney and urogenital tract abnormalities: an increased pooled relative risk of 5.49 (95%-CI: 1.78-16.93) was observed in Down syndrome. Penile malformations, obstructive malformations (including urethral valves), dilated urinary tract system, and kidney hypodysplasia were especially common. Three reports addressed the prevalence of lower urinary tract dysfunction: an increased pooled relative risk of 2.95 (95%-CI: 1.15-7.56) was observed. Finally, an autoptic study and an ultrasound study disclosed a reduced kidney size in Down syndrome. CONCLUSIONS: This meta-analysis indicates that abnormalities of the kidney and urogenital tract, lower urinary tract dysfunctions, and a reduced kidney size present with an increased frequency in individuals with Down syndrome.

The hidden burden of Pediatric urology in Sub-Saharan Africa: an analysis of hospital admission data from three East African Health Centres.

Specialist facilities for children are still unavailable in some Sub-Saharan African contexts. It is the case of pediatric urology, whose recent advances are still largely unshared. Prenatal diagnosis of urinary abnormalities (CAKUT) is largely unknown. Early recognition and referral of Undescended testis (UDT), Hypospadia, bladder exstrophy epispadias complex, ambiguous genitalia, stone disease, and tumours are uncommon in rural areas. Missed diagnosis is not uncommon and delayed management is associated with poor outcomes. We present a cross-sectional, descriptive study about the epidemiology of Pediatric urological admissions to three sub-Saharan East African Hospitals. All the urological cases between 0-18 years referred to three distinct East African Hospitals over 124 weeks were considered. Prevalence of different groups of diseases, age, and mode of presentation were reported. We found 351 cases (M/F 127/24) out of 2543 surgical referrals (13%). Seventy percent of cases were Hypospadias and UDT. Fifty percent of UDT were beyond 6, and most Hypospadias were between 4 and 7 yrs. CAKUT had a very low prevalence (4.84%), and about 50% of Wilms Tumours came too late to be resectable. In many African contexts, urology is still a tiny portion of the pediatric surgical workload compared to the 25% of European and American reports. There are also differences in the epidemiology of genitourinary conditions. A hidden burden of diseases may be presumed, remaining undiagnosed due to the shortage of specialist facilities.

Validation of ICD-9-CM codes for major genitourinary birth defects in Military Health System administrative data, 2006-2014.

BACKGROUND: The Department of Defense Birth and Infant Health Research program is dedicated to birth defects research and surveillance among military families. Here, we assess and refine the validity of International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes for selected genitourinary birth defects in the Military Health System (MHS). We additionally outline methods for the calculation of positive predictive value (PPV) and negative predictive value (NPV), sensitivity, and specificity using a stratified sampling design. METHODS: Among military infants born from 2006 through 2014, a random sample of ICD-9-CM screen-positive cases (for six genitourinary birth defects) and screen-negative cases were selected for chart review. PPV, NPV, sensitivity, and specificity were calculated for individual defects and any included defect (i.e., overall); measures were weighted by the inverse probability of being sampled. RESULTS: Of 461,557 infants, 686 were sampled for chart review. Bladder exstrophy was accurately reported (PPV: >90%), while the accuracy of renal dysplasia, renal agenesis/hypoplasia, and hypospadias was moderate (PPVs: 66%-68%) and congenital hydronephrosis was low (PPV: 20%). Specificity and NPVs always exceeded 98%. The overall PPV was 50%; however, excluding congenital hydronephrosis screen-positive cases and requiring at least two inpatient or outpatient diagnostic codes resulted in a PPV of 85%. CONCLUSIONS: The validity of major genitourinary birth defect codes varied in MHS administrative data. The accuracy of an overall defect measure improved by omitting congenital hydronephrosis and requiring at least two diagnostic codes. Although PPV is generally useful for research, additional calculation of NPV, sensitivity, and specificity better informs the identification of appropriate selection criteria across surveillance and research settings.

Incidence of genitourinary anomalies in congenital scoliosis: systematic review and meta-analysis.

PURPOSE: The main objective of this study was to assess the overall incidence of genitourinary anomalies in patients with congenital scoliosis by providing the highest level of evidence. The secondary objective was to look for associations and trends influencing the incidence. METHODS: A meta-analysis using PubMed, Embase, Scopus, and the Cochrane Collaboration Library database was carried out. We included studies focusing on patients with congenital scoliosis and genitourinary anomalies. The main outcome was the incidence of genitourinary anomalies in congenital scoliosis. We also collected the following data: patient gender, type of deformity (formation, segmentation, or mixed), deformity location, and associated anomalies. We included cohort studies. Data was extracted from published reports and combined using Review Manager 5.4. The quality of the included studies was assessed independently by two authors using the Methodological Index for Non-Randomized Studies (MINORS) criteria. RESULTS: A total of eight cohort studies were included from a pool of 2781 patients. The incidence of genitourinary anomalies associated with congenital scoliosis was 22.91% (95% CI 13.39-32.43%). The incidence of surgically treated genitourinary anomalies was 13.92% (95% CI 4.54-23.31%). There were no differences related to gender (male 49.3% versus female 50.7%; p > 0.05). There were no differences regarding the type of deformity. The incidences of associated intraspinal, cardiac, musculoskeletal and craniofacial anomalies were 33.30%, 17.60%, 27.77% and 19.83% respectively. The most frequent genitourinary anomalies were: unilateral kidney (111/388); renal ectopia (50/367); obstructive uropathy (30/201), horseshoe kidney (30/313) and undescended testicle (16/180). CONCLUSIONS: The incidence of genitourinary anomalies associated with congenital scoliosis was 22.91%, and 13.92% were surgically treated. Unilateral kidney was the most common genitourinary abnormality. There were no differences between genders and deformity types. It is important to consider the association between genitourinary anomalies and intraspinal or musculoskeletal anomalies.

Congenital anomalies of the kidney and urinary tract: defining risk factors of disease progression and determinants of outcomes.

Congenital anomalies of the kidney and urinary tract (CAKUT) result from disruptions in normal kidney and urinary tract development during fetal life and collectively represent the most common cause of kidney failure in children worldwide. The antenatal determinants of CAKUT are diverse and include mutations in genes responsible for normal nephrogenesis, alterations in maternal and fetal environments, and obstruction within the normal developing urinary tract. The resultant clinical phenotypes are complex and depend on the timing of the insult, the penetrance of underlying gene mutations, and the severity and timing of obstruction related to the sequence of normal kidney development. Consequently, there is a broad spectrum of outcomes for children born with CAKUT. In this review, we explore the most common forms of CAKUT and those most likely to develop long-term complications of their associated kidney malformations. We discuss the relevant outcomes for the different forms of CAKUT and what is known about clinical characteristics across the CAKUT spectrum that are risk factors of long-term kidney injury and disease progression.

Kidney transplant access for children and young adults with congenital anomalies of the kidney and urinary tract.

PURPOSE: Although congenital anomalies of the kidney and urinary tract (CAKUT) are among the leading causes of end-stage kidney disease (ESKD) in children and young adults, kidney transplantation access for this population has not been well studied in the US. We compared transplantation access in the US based on whether the etiology of kidney disease was secondary to CAKUT, and additionally by CAKUT subgroups (anatomic vs. inherited causes of CAKUT). METHODS: Using the United States Renal Data System, we conducted a retrospective cohort study of 80,531 children and young adults who started dialysis between 1995 and 2015. We used adjusted Cox models to examine the association between etiology of kidney disease (CAKUT vs. non-CAKUT, anatomic vs. inherited) and receipt of kidney transplantation, and secondarily, receipt of a living vs. deceased donor kidney transplant. RESULTS: Overall, we found an increased likelihood of kidney transplantation access for participants with CAKUT compared to those without CAKUT (HR 1.23; 95% CI 1.20-1.27). Among the subset of individuals with CAKUT as the attributed cause of ESKD, we found a lower likelihood of kidney transplantation in those with anatomic causes of CAKUT compared to those with inherited causes of CAKUT (adjusted HR 0.85; 0.81-0.90). CONCLUSION: There are notable disparities in kidney transplantation rates among CAKUT subgroups. Those with anatomic causes of CAKUT started on dialysis have significantly reduced access to kidney transplantations compared to individuals with inherited causes of CAKUT who were initiated on dialysis. Further studies are needed to understand barriers to transplantation access in this population.

Maternal risk factors for congenital anomalies of the kidney and urinary tract: A case-control study.

BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are significant causes of pediatric morbidity and mortality. The spectrum of CAKUT can be part of a syndrome, but most of these abnormalities occur as isolated and sporadic forms. The etiology of human CAKUT is unknown in the majority of cases. This case-control study aimed to investigate the association between maternal characteristics and the occurrence of CAKUT and specific CAKUT phenotypes. METHODS: In this case-control study, 29,653 newborns were evaluated consecutively in a tertiary neonatal unit using the Latin American Collaborative Study of Congenital Malformations (ECLAMC) registry. Newborns without congenital anomalies were matched to CAKUT cases by sex, date, and place of birth at a ratio of 3:1. For analysis purposes, the cases were stratified into four subgroups: upper tract abnormalities (UTA), including ureteropelvic junction obstruction, vesicoureteral reflux, primary megaureter and others (n = 239), lower urinary tract obstruction (LUTO) (n = 79), cystic diseases (n = 59) and agenesis/hypodysplasia (n = 28). Multivariable logistic regression analyses were used to calculate crude and adjusted odds ratios (ORs) with 95% confidence intervals (CIs) for associations between the maternal risk factors and the presence of CAKUT. RESULTS: The prevalence of non-syndromic CAKUT in our sample was 13 per 1000 live births. Data records allowed the analysis of 405 cases and 1208 controls. After adjustment by the binary regression logistic, three covariates remained associated as risk factors for the entire spectrum of CAKUT: consanguinity (Odds ratio [OR], 7.1, 95%CI, 2.4-20.4), family history of CAKUT (OR, 6.4, 95%CI, 1.9-21.3), and maternal chronic hypertension (OR, 14.69, 95%CI, 3.2-67.5) (Figure). These risk factors persisted consistently across the various CAKUT phenotypes with minor variations. Consanguinity was the only factor consistently associated with almost all CAKUT phenotypes. Maternal hypertension was associated with all phenotypes except for the agenesis/hypodysplasia group. The prevalence of CAKUT cases was 15 times higher in hypertensive mothers (3%) compared to normotensive mothers (0.2%). CONCLUSION: Our study suggests that an increased risk of CAKUT is associated with consanguinity, a positive family history of CAKUT, and maternal hypertension. However, the prevalence of these risk factors in our cohort was rare and most cases presented as sporadic forms.

Congenital anomalies of the kidney and urinary tract (CAKUT) in critically ill infants: a multicenter cohort study.

BACKGROUND: The aim of the study was to determine the prevalence of congenital anomalies of the kidney and urinary tract (CAKUT) in the neonatal intensive care unit (NICU) and to evaluate risk factors associated with worse outcomes. We hypothesized that infants with CAKUT with extra-renal manifestations have higher mortality. METHODS: This is a cohort study of all inborn infants who were diagnosed with any form of CAKUT discharged from NICUs managed by the Pediatrix Medical Group from 1997 to 2018. Logistic and linear regression models were used to analyze risk factors associated with in-hospital mortality. RESULTS: The prevalence of CAKUT was 1.5% among infants hospitalized in 419 NICUs. Among the 13,383 infants with CAKUT analyzed, median gestational age was 35 (interquartile range [IQR] 31-38) weeks and median birth weight was 2.34 (IQR 1.54-3.08) kg. Overall in-hospital mortality for infants with CAKUT was 6.8%. Oligohydramnios (adjusted odds ratio [aOR] 4.5, 95% confidence interval [CI] 2.2-9.1, p < 0.001), extra-renal anomalies (aOR 2.5, 95% CI 2.0-3.1, p < 0.001), peak SCr (aOR 1.02, 95% CI 1.01-1.03, p < 0.001) and exposure to nephrotoxic medications (aOR 1.4, 95% CI 1.1-1.7, p = 0.01) were associated with increased mortality, while a history of urological surgery or intervention was associated with lower mortality (aOR 0.6, 95% CI 0.4-0.7, p < 0.001). CONCLUSIONS: Infants hospitalized in the NICU who have CAKUT and the independent risk factors for mortality (e.g., oligohydramnios and presence of extra-renal anomalies) require close monitoring, minimizing of exposure to nephrotoxic drugs, and timely urological surgery or intervention. A higher resolution version of the Graphical abstract is available as Supplementary information.

Reproductive outcome in 326 women with unicornuate uterus.

OBJECTIVES: To study the reproductive outcomes of women with a unicornuate uterus and compare them to those of women with no congenital uterine anomaly. METHODS: This was a single-center, retrospective cohort study. Cases were women aged at least 16 years who were diagnosed with a unicornuate uterus on transvaginal/transrectal ultrasound between January 2008 and September 2021. Controls were women with no congenital uterine anomaly matched 1:1 by age and body mass index. The primary outcome was live-birth rate. Secondary outcomes were pregnancy loss (miscarriage, ectopic pregnancy, termination of pregnancy), preterm delivery, mode of delivery and concomitant gynecological abnormalities (endometriosis, adenomyosis, fibroids). RESULTS: Included in the study were 326 cases and 326 controls. Women with a unicornuate uterus had a significantly lower live-birth rate (184/388 (47.4%) vs 229/396 (57.8%); P = 0.004) and higher rates of overall miscarriage (178/424 (42.0%) vs 155/465 (33.3%); adjusted odds ratio (aOR), 2.21 (95% CI, 1.42-3.42), P < 0.001), ectopic pregnancy (26/424 (6.1%) vs 11/465 (2.4%); aOR, 2.52 (95% CI, 1.22-5.22), P = 0.01), preterm delivery (45/184 (24.5%) vs 17/229 (7.4%); aOR, 3.04 (95% CI, 1.52-5.97), P = 0.001) and Cesarean delivery (116/184 (63.0%) vs 70/229 (30.6%); aOR, 2.54 (95% CI, 1.67-3.88), P < 0.001). Rudimentary-horn pregnancies accounted for 7/26 (26.9%) ectopic pregnancies in the study group. Women with a unicornuate uterus were more likely to have endometriosis (17.5% vs 10.7%; P = 0.018) and adenomyosis (26.7% vs 15.6%; P = 0.001), but were not more likely to have fibroids compared with controls. Women with a functional rudimentary horn were more likely to have pelvic endometriosis compared to those without (odds ratio, 2.4 (95% CI, 1.4-4.1), P = 0.002). CONCLUSIONS: Pregnant women with a unicornuate uterus should be classified as high risk. Removal of a functional rudimentary horn should be discussed with the patient to prevent a rudimentary-horn ectopic pregnancy. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Should we screen for Müllerian anomalies following diagnosis of a congenital renal anomaly?

INTRODUCTION: Despite the well-established embryological relationship in the development of renal and Müllerian structures, no clear guidelines exist regarding screening for Müllerian anomalies (MA) in the setting of a renal anomaly (RA). Delayed diagnosis of MA can have significant reproductive consequences. OBJECTIVE: To investigate the prevalence of coexisting MA in patients with congenital RA. STUDY DESIGN: This is a retrospective cohort study of females age 12-35 years with a diagnosis of RA, identified by diagnosis codes, who were followed for care between 2013 and 2020. Data were collected on demographics, medical history, clinical presentation, and imaging studies. Descriptive statistics were used to summarize the data. This study was IRB approved. RESULTS: A total of 465 patients were included in this study, of whom 326 patients (70.3%) had a pelvic evaluation during the study period. Of these 326 patients, 125 (38.3%) were found to have coexistent MA. About one-third of patients who underwent pelvic evaluation due to pain were found to have MA. For 69.6% (87/125) of patients with MA, the RA was diagnosed prior to the MA. The average age at time of RA diagnosis was 6.4 ± 8.8 years and the average age of MA diagnosis was 16.4 ± 6.9 years. Forty-eight (38.4%) patients had obstructive anomalies. Of the Müllerian obstructions, 93.8% were treated with urgent surgery and the remainder started on hormonal suppression. The prevalence of MA was dependent on the RA diagnosis (Figure). Of patients with a solitary kidney, 67.1% were diagnosed with MA. For other parenchymal RA, the prevalence of MA was 20-23%. In patients with solitary kidney, uterus didelphys was the most common MA (52.1%). Thirty percent of patients with a solitary kidney were diagnosed with an obstructive MA. CONCLUSIONS: In this study, 38% of patients with RA who underwent a pelvic evaluation were found to also have MA. Our study shows the strongest association between MA and solitary kidney, but also emphasizes a significant risk with other RA. Almost 40% of patients with diagnosed MA were found to have an obstruction that required urgent treatment. Delays in diagnosis and treatment of Müllerian obstructions can be detrimental for future reproductive health, due to risk of chronic pain, infertility, infection, and endometriosis. Given the high prevalence of MA in patients with RA, especially those with congenital solitary kidney, routine screening with pelvic ultrasound should be performed around the age of expected menarche.

Maternal Chronic Disease and Congenital Anomalies of the Kidney and Urinary Tract in Offspring: A Japanese Cohort Study.

RATIONALE & OBJECTIVE: Several maternal chronic diseases have been reported as risk factors for congenital anomalies of the kidney and urinary tract (CAKUT) in offspring. However, these investigations used case-control designs, and cases with isolated genitourinary CAKUT were not distinguished from cases in which CAKUT were present with extrarenal congenital anomalies (complicated CAKUT). We examined the association of maternal diseases with isolated and complicated CAKUT in offspring using data from a prospective cohort study. STUDY DESIGN: A nationwide prospective birth cohort study. SETTING & PARTICIPANTS: 100,239 children enrolled in the Japan Environment and Children's Study between January 2011 and March 2014 at 15 research centers. Physicians' diagnoses in mothers and children were collected from medical record transcripts and questionnaires. EXPOSURES: Medical histories of maternal noncommunicable diseases, including obesity, hypertension, diabetes mellitus, kidney disease, hyperthyroidism, hypothyroidism, psychiatric disease, epilepsy, cancer, and autoimmune disease. OUTCOMES: CAKUT diagnosed during the first 3 years of life, classified as isolated or complicated. ANALYTICAL APPROACH: Multivariable Poisson regression with generalized estimating equations accounting for clustering by clinical center. RESULTS: Among the 100,239 children, 560 (0.6%) had CAKUT, comprising 454 (81%) isolated and 106 (19%) complicated forms. The risk of isolated CAKUT was increased in children of mothers who experienced kidney disease (adjusted risk ratio [RR], 1.80 [95% CI, 1.12-2.91]) or cancer (RR, 2.11 [95% CI, 1.15-3.86]). Furthermore, the risk of complicated CAKUT was increased in children of mothers with diabetes mellitus (RR, 3.04 [95% CI, 1.64-5.61]). LIMITATIONS: Lack of standardization or prespecification of clinical definitions, diagnostic criteria, measurements, and testing. Genetic testing was not performed. CONCLUSIONS: Isolated CAKUTs and complicated CAKUTs were associated with different maternal diseases. The results may inform clinical management of pregnancy and highlight potential differences in the genesis of isolated and complicated forms of CAKUT.

Genital defects seen in sons of men taking major diabetes drug.

Large study hints that taking metformin before conception could raise risk of birth defects by affecting sperm.

Antibody microarray analysis of amniotic fluid proteomes in women with cervical insufficiency and short cervix, and their association with pregnancy latency length.

INTRODUCTION: This study aimed to investigate amniotic fluid (AF) proteins that were differentially expressed between patients with cervical insufficiency (CI) and asymptomatic short cervix (SCX, ≤ 25 mm), and whether these proteins could be predictive of spontaneous preterm birth (SPTB) in these patients. METHOD: This was a retrospective cohort study of 129 singleton pregnant women with CI (n = 80) or SCX (n = 49) at 17 to 26 weeks who underwent amniocentesis. An antibody microarray was used to perform comparative proteomic profiling of AF from matched CI (n = 20) and SCX (n = 20) pregnancies. In the total cohort, an ELISA validation study was performed for 15 candidate proteins of interest. Subgroup analyses of patients with CI and SCX were conducted to evaluate the association between the 15 proteins and SPTB at < 32 weeks of gestation. RESULTS: Eighty-six proteins showed intergroup differences. ELISA validation confirmed significantly higher levels of AF EN-RAGE, IL-8, lipocalin-2, MMP-9, S100A8/A9, thrombospondin-2, and TNFR2 in patients with CI than in those with SCX. Multivariable analysis showed that increased AF levels of EN-RAGE, S100A8/A9, and uPA were independently associated with SPTB at < 32 weeks in patients with CI; whereas in patients with SCX, high AF levels of APRIL, EN-RAGE, LBP, and TNFR2 were independently associated with SPTB at < 32 weeks. CONCLUSIONS: Multiple AF proteins show altered expression in patients with CI compared with SCX controls. Moreover, several novel mediators involved in inflammation were identified as potential biomarkers for predicting SPTB after the diagnosis of CI and SCX. These results provide new insights into target-specific molecules for targeted therapies to prevent SPTB in patients with CI/SCX.

Prevalence of deep and ovarian endometriosis in early pregnancy: ultrasound diagnostic study.

OBJECTIVE: To assess the prevalence and morphological appearance of deep endometriosis and ovarian endometrioma using pelvic ultrasound examination in women attending for an early pregnancy assessment. METHODS: This was a prospective observational study set within a dedicated early pregnancy unit. The study included 1341 consecutive women who attended for an early pregnancy assessment for reassurance or because of suspected early pregnancy complications. All women underwent a transvaginal scan to assess the location and viability of their pregnancy. In addition, a detailed examination of pelvic organs was carried out to detect the presence of endometriosis and other gynecological abnormalities. Data analysis was performed using logistic regression and multivariable analysis. RESULTS: The prevalence of deep endometriosis and/or ovarian endometrioma in women attending our early pregnancy unit was 4.9% (95% CI, 3.8-6.2%). In 33/66 (50.0% (95% CI, 37.9-62.1%)) women with endometriosis, this was a new diagnosis that was made during their early pregnancy scan. On multivariable analysis, the presence of endometriosis was strongly associated with a history of subfertility (odds ratio (OR), 3.15 (95% CI, 1.63-6.07)) and presence of a congenital uterine anomaly (OR, 5.69 (95% CI, 2.17-14.9)) and uterine fibroids (OR, 2.37 (95% CI, 1.31-4.28)). Morphological changes typical of decidualization were seen in 11/33 (33.3% (95% CI, 17.2-49.4%)) women with ovarian endometrioma and 18/57 (31.6% (95% CI, 19.5-43.7%)) women with deep endometriotic nodules. CONCLUSIONS: Deep endometriosis and ovarian endometrioma were present in a significant proportion of women attending for early pregnancy assessment. The prevalence varied depending on a history of subfertility, and therefore is likely to differ significantly among populations, depending on their characteristics. Ultrasound is a useful tool for the detection of endometriosis in early pregnancy and the identification of women who may benefit from specialist antenatal care. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

The association between the congenital heart diseases and congenital anomalies of the kidney and the urinary tract in nonsyndromic children.

Several congenital heart diseases (CHD) are present in children with congenital anomalies of the kidney and the urinary tract (CAKUT) in syndromic or nonsyndromic patterns. The purpose of this study was to identify nonsyndromic children with CAKUT who required echocardiographic evaluation and to find the prevalence of CHD in these patients. Retrospective chart review of nonsyndromic patients with CAKUT between 2012 and 2018 was conducted. Types of congenital anomalies of the kidney and urinary tract and echocardiogram reports of the patients, age, gender, prematurity, prenatal diagnosis of CAKUT, and family history were noted. Among 806 children with CAKUT, 135 patients underwent transthoracic echocardiographic evaluation and CHD was detected in 91 (11.2%). The most common type of CHD was secundum type atrial septal defect that was found in 73 (80.2%) patients. On the other hand, the most frequent types of congenital anomalies of the kidney and the urinary tract were isolated hydronephrosis and primary vesicoureteral reflux (61.4% and 12.8%, respectively). Our results showed that 75.8% of the patients with congenital heart diseases had isolated hydronephrosis. Finally, only 18 (2.2%) cases out of 806 patients that were evaluated via transthoracic echocardiography due to the clinical findings and family history had a CHD that required close (<6 months) follow-up. Congenital heart diseases that required close follow-up are rarely observed in nonsyndromic patients with CAKUT. Therefore, we suggest echocardiography should be performed in cases of clinical suspicion and family history rather than routinely in this patient group.

The association between congenital uterine anomalies and perinatal outcomes - does type of defect matters?

OBJECTIVE: To evaluate the association between congenital uterine anomalies (CUA) and adverse perinatal outcomes stratified by type of anomaly. METHODS: A retrospective cohort study of all women delivered in one university-affiliated medical center between 2010 and 2017 with CUA. Multiple pregnancies and pregnancies complicated by fetal anomalies were excluded. Maternal and short-term neonatal outcomes were evaluated and compared between women with unification defects (unicornuate, bicornuate, or uterus didelphys), and canalization defects represented by septate uterus. Univariate analysis was utilized followed by multivariate analysis to adjust for confounders. p < .05 was considered significant. RESULTS: Among 167 pregnancies with CUA, 92 (55.1%) had bicornuate uterus, 32 (19.1%) septate uterus, 26 (15.6%) didelphys uterus, and 17 (10.1%) unicornuate uterus. Maternal demographics and obstetric characteristics were similar between women with unification and canalization defects. The entire cohort had high rates of preterm delivery (PTD), malpresentation, and cesarean delivery (CD) (25.7%, 42.5%, and 63.5%, respectively). In comparison to unification defects, pregnancies in women with canalization defects (septate uterus), had increased risk for PTD <32 weeks (12.5% vs. 2.9%, p = .02), and placental abruption (12.5% vs. 3%, p = .02), however, a lower overall rate of CD (46.9% vs. 67.4%, p = .03). Following adjustment to confounders (age, BMI, nulliparity, chronic hypertension, and smoking) none of the results remained statistically significant. There were no differences in neonatal outcomes between the groups. CONCLUSIONS: Overall, women with CUA have a high prevalence of adverse pregnancy outcomes. However, outcome does not differ by type of anomaly.

The impact of congenital uterine abnormalities on pregnancy and fertility: a literature review.

Congenital abnormalities of the uterus result primarily from embryological maldevelopment of the paramesonephric ducts and have been associated with pregnancy complications, reduced fertility, and other adverse fetal outcomes. While such abnormalities are rare, affected patients should be correctly managed to improve psychological, sexual, and reproductive outcomes. This review intends to elucidate the impact of congenital uterine abnormalities on fertility and pregnancy outcomes. We also present the available management methods and discuss the role of assisted reproductive technologies (ART) to benefit affected women. This review clearly shows that although these disorders are generally not lethal, they critically impact the patient's reproductive health. The fertility rate of patients with uterine congenital abnormalities depends on the severity of the condition. Reproductive endocrinologists and infertility specialists must be considered as active parts of the interdisciplinary treatment team for such patients. ART practices are reasonably successful at managing fertility problems of women with these abnormalities.

Night shift work undertaken by women and fertility treatment interact to increase prevalence of urogenital anomalies in children.

OBJECTIVE: To investigate the role of maternal night shift work in occurrence of urogenital anomalies in offspring, considering a possible interaction with mode of conception. METHODS: A population-based cohort comprising births in South Australia (1986-2002) was produced via linkage of fertility clinic records, perinatal and birth defects data. This study concerned first births to women in paid employment (n=98 103). Potential exposure to night shift was imputed by applying a job-exposure matrix to recorded occupation. Associations were examined using logistic regression, first for nurses and other night shift workers separately, then combined. An interaction term for night shift work and mode of conception was included in all models, while adjusting for covariates. RESULTS: Associations were similar for nurses and other night shift workers, although only statistically significant for the former when considered separately. A multiplicative interaction was supported: for natural conceptions, maternal night shift work was not associated with offspring urogenital anomalies (OR=0.99, 95% CI 0.84 to 1.15); where a birth arose from fertility treatment, urogenital anomalies were significantly higher among births to all night shift workers compared with day workers (OR=2.07, 95% CI 1.20 to 3.55). This was not due to differences in the type of fertility treatment received. CONCLUSIONS: Women in occupations that probably involved night shift did not have offspring with increased prevalence of urogenital anomalies if they conceived naturally. When night shift workers conceived with fertility treatment, the prevalence of urogenital anomalies was elevated. Possibly these women had the greatest exposure to night shift work, or least tolerance for this work schedule, or heightened sensitivity to hormonal aspects of fertility treatment.