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Taiwanese Journal of Obstetrics &... Nov 2023The study aimed to demonstrate the performance of anal atresia ultrasound screening in the second trimester and to describe associated experiences in a primary care...
OBJECTIVES
The study aimed to demonstrate the performance of anal atresia ultrasound screening in the second trimester and to describe associated experiences in a primary care fetal medicine clinic.
MATERIALS AND METHODS
We retrospectively analyzed the medical records of fetuses who underwent a second-trimester screening at the Taiji clinic between November 2019 and May 2022. Fisher's exact test was conducted to investigate potential risk factors.
RESULTS
There were 28 459 fetuses screened in our clinic during the study period; eventually, 6 cases were diagnosed with anal atresia after birth. The incidence of anal atresia in our sample was 2.11 in 10 000. Based on our findings, potential risk factors significantly associated with anal atresia included: multiple pregnancies (p-value = 0.0185) and in-vitro fertilization (p-value = 0.038). Half of the anal atresia cases were associated with abnormalities affecting other organ systems, most frequently the genitourinary system (66.7%) and cardiovascular system (66.7%), especially persistent left superior vena cava (2 cases).
CONCLUSION
Anal atresia is a malformation that requires extensive care; the clinical management after the prenatal discovery of its signs should include testing for chromosomal abnormalities and close monitoring of the amniotic fluid volume. Therefore, prenatal ultrasound screening for anal atresia in the second trimester is critical, particularly in the cases of multiple and IVF pregnancies, and multiple abnormalities. The fetuses with ultrasound signs of anal atresia should be followed at a later gestational period and referred to a specialized institution for postnatal management planning and parental counseling.
Topics: Pregnancy; Female; Humans; Anus, Imperforate; Pregnancy Trimester, Second; Retrospective Studies; Ultrasonography, Prenatal; Vena Cava, Superior; Prenatal Diagnosis
PubMed: 38008509
DOI: 10.1016/j.tjog.2023.08.004 -
Urology Jun 2024Caudal duplication syndrome is a rare congenital anomaly with various duplications of structures derived from the embryonic cloaca and notochord. A male neonate was born...
Caudal duplication syndrome is a rare congenital anomaly with various duplications of structures derived from the embryonic cloaca and notochord. A male neonate was born with diphallia, bifid scrotum and duplicated anorectal malformation. Diagnostic and operative evaluation identified a partially duplicated right kidney with left-to-right crossed fused ectopia, bilateral hydronephrosis, two separate hemi-bladders, left ectopic ureter with vesicoureteral reflux, and a left rectourethral fistula. To our knowledge, this is the first reported caudal duplication anomaly with complete genitourinary duplication, with diphallia, duplicated bladder, bifid scrotum, extra-numerary kidneys and a duplicated rectum.
PubMed: 38908563
DOI: 10.1016/j.urology.2024.06.028 -
Archives of Gynecology and Obstetrics Jan 2024To assess the spectrum of underlying pathologies, the intrauterine course and postnatal outcome of 46 fetuses with megacystis that underwent intrauterine vesico-amniotic...
OBJECTIVES
To assess the spectrum of underlying pathologies, the intrauterine course and postnatal outcome of 46 fetuses with megacystis that underwent intrauterine vesico-amniotic shunting (VAS) with the Somatex® shunt in a single center.
METHODS
Retrospective analysis of 46 fetuses with megacystis that underwent VAS either up to 14 + 0 weeks (early VAS), between 14 + 1 and 17 + 0 weeks (intermediate VAS) or after 17 + 0 weeks of gestation (late VAS) in a single tertiary referral center. Intrauterine course, underlying pathology and postnatal outcome were assessed and correlated with the underlying pathology and gestational age at first VAS.
RESULTS
46 fetuses underwent VAS, 41 (89%) were male and 5 (11%) were female. 28 (61%) fetuses had isolated and 18 (39%) had complex megacystis with either aneuploidy (n = 1), anorectal malformations (n = 6), cloacal malformations (n = 3), congenital anomalies overlapping with VACTER association (n = 6) or Megacystis-Microcolon Intestinal-Hypoperistalsis Syndrome (MMIHS) (n = 2). The sonographic 'keyhole sign' significantly predicted isolated megacystis (p < 0.001). 7 pregnancies were terminated, 4 babies died in the neonatal period, 1 baby died at the age of 2.5 months and 34 (74%) infants survived until last follow-up. After exclusion of the terminated pregnancies, intention-to-treat survival rate was 87%. Mean follow-up period was 24 months (range 1-72). The underlying pathology was highly variable and included posterior urethral valve (46%), hypoplastic or atretic urethra (35%), MMIHS or prune belly syndrome (10%) and primary vesico-ureteral reflux (2%). In 7% no pathology could be detected postnatally. No sonographic marker was identified to predict the underlying pathology prenatally. 14 fetuses underwent early, 24 intermediate and 8 late VAS. In the early VAS subgroup, amnion infusion prior to VAS was significantly less often necessary (7%), shunt complications were significantly less common (29%) and immediate kidney replacement therapy postnatally became less often necessary (0%). In contrast, preterm delivery ≤ 32 + 0 weeks was more common (30%) and survival rate was lower (70%) after early VAS compared to intermediate or late VAS. Overall, 90% of liveborn babies had sufficient kidney function without need for kidney replacement therapy until last follow-up, and 95% had sufficient pulmonary function without need for mechanical respiratory support. 18% of babies with complex megacystis suffered from additional health restrictions due to their major concomitant malformations.
CONCLUSIONS
Our data suggest that VAS is feasible from the first trimester onward. Early intervention has the potential to preserve neonatal kidney function in the majority of cases and enables neonatal survival in up to 87% of cases. Despite successful fetal intervention, parents should be aware of the potential of mid- or long-term kidney failure and of additional health impairments due to concomitant extra-renal anomalies that cannot be excluded at time of intervention.
Topics: Pregnancy; Infant, Newborn; Infant; Humans; Male; Female; Retrospective Studies; Amnion; Ultrasonography, Prenatal; Fetus; Urethra
PubMed: 36604332
DOI: 10.1007/s00404-022-06905-6 -
Indian Journal of Pathology &... Apr 2024Multicystic dysplastic kidney (MCDK) is defined as the presence of multiple noncommunicating cysts of various sizes, detected sonographically, without evidence of...
OBJECTIVES
Multicystic dysplastic kidney (MCDK) is defined as the presence of multiple noncommunicating cysts of various sizes, detected sonographically, without evidence of functioning renal parenchyma on dimercaptosuccinic acid renal scan. It has an incidence of 1:4000 live births. They are more commonly diagnosed in boys, usually on the left side, but may also be bilateral. There is the presence of primitive ducts surrounded by fibromuscular connective tissue. These are because of the disturbed connection of the ureteric bud with renal blastema and abnormal division at the stage of metanephros, resulting in an abnormal metanephros differentiation.
MATERIALS AND METHODS
Thirty cases of MCDK were included to study their histomorphology along with their clinical features. Cases were retrieved from the last seven years (2015-2021) from the Department of Pathology, Maulana Azad Medical College.
RESULT
Age ranged from 10 days to 18 years. The cases were between 1 years and 5 years of age. Six out of 30 cases (20%) were infants with three of them being neonates. Twenty-one cases were males. All the cases had unilateral kidney involvement with the left kidney being involved in 20 out of 30 cases. Twenty-eight cases underwent nephrectomy in view of small contracted nonfunctional kidneys with one of them being horseshoe shaped. Five cases had associated hydronephrosis (two ipsilateral and three bilateral). One case had Hirshprung's disease, four had anorectal malformation, two had posterior urethral valves with vesicourethral reflux, one had duplex moiety, and one had undescended testes. On histopathological examination, all of them showed the presence of immature disorganized tubules surrounded by a collarette of immature mesenchymal stroma. One of the cases showed osteoid formation and four had areas of immature cartilage. Normal kidney parenchyma was seen at the periphery in four cases.
CONCLUSION
This series has been presented to highlight the various histomorphological features of MCDK. MCDK can be managed conservatively in most of cases due to autoinvolution and, hence, needs to be differentiated from other close differentials like polycystic kidney disease, cystic nephroma, and cystic partially differentiated nephroblastoma in order to avoid unnecessary surgical intervention.
Topics: Humans; Multicystic Dysplastic Kidney; Male; Female; Tertiary Care Centers; Child; Infant; Adolescent; Child, Preschool; Infant, Newborn; Kidney; Nephrectomy
PubMed: 38427756
DOI: 10.4103/ijpm.ijpm_202_23 -
Children (Basel, Switzerland) Apr 2024Neonates with a new diagnosis of anorectal malformation (ARM) present a unique challenge to the clinical team. ARM is strongly associated with additional midline...
Neonates with a new diagnosis of anorectal malformation (ARM) present a unique challenge to the clinical team. ARM is strongly associated with additional midline malformations, such as those observed in the VACTERL sequence, including vertebral, cardiac, and renal malformations. Timely assessment is necessary to identify anomalies requiring intervention and to prevent undue stress and delayed treatment. We utilized a multidisciplinary team to develop an algorithm guiding the midline workup of patients newly diagnosed with ARM. Patients were included if born in or transferred to our neonatal intensive care unit (NICU), or if seen in clinic within one month of life. Complete imaging was defined as an echocardiogram, renal ultrasound, and spinal magnetic resonance imaging or ultrasound within the first month of life. We compared three periods: prior to implementation (2010-2014), adoption period (2015), and delayed implementation (2022); ≤ 0.05 was considered significant. Rates of complete imaging significantly improved from pre-implementation to delayed implementation (65.2% vs. 50.0% vs. 97.0%, = 0.0003); the most growth was observed in spinal imaging (71.0% vs. 90.0% vs. 100.0%, = 0.001). While there were no differences in the rates of identified anomalies, there were fewer missed diagnoses with the algorithm (10.0% vs. 47.6%, = 0.05). We demonstrate that the implementation of a standardized algorithm can significantly increase appropriate screening for anomalies associated with a new diagnosis of ARM and can decrease delayed diagnosis. Further qualitative studies will help to refine and optimize the algorithm moving forward.
PubMed: 38671711
DOI: 10.3390/children11040494 -
European Journal of Medical Genetics Jun 2024Anorectal malformations (ARMs) represent a wide spectrum of congenital anomalies of the anus and rectum, of which more than half are syndromic. Their etiology is highly... (Review)
Review
Anorectal malformations (ARMs) represent a wide spectrum of congenital anomalies of the anus and rectum, of which more than half are syndromic. Their etiology is highly heterogeneous and still poorly understood. We report a 4-year-old girl who initially presented with an isolated ARM, and subsequently developed a global developmental delay as part of an ARID1B-related Coffin-Siris syndrome (CSS). A co-occurrence of ARMs and CSS in an individual by chance is unexpected since both diseases are very rare. A review of the literature enabled us to identify 10 other individuals with both CSS and ARMs. Among the ten individuals reported in this study, 8 had a variant in ARID1A, 2 in ARID1B, and 1 in SMARCA4. This more frequent than expected association between CSS and ARM indicates that some ARMs are most likely part of the CSS spectrum, especially for ARID1A-related CSS.
Topics: Humans; Female; Micrognathism; Child, Preschool; Intellectual Disability; Transcription Factors; Neck; Hand Deformities, Congenital; Abnormalities, Multiple; DNA-Binding Proteins; Anorectal Malformations; Face; DNA Helicases; Nuclear Proteins; Anal Canal; Phenotype
PubMed: 38735569
DOI: 10.1016/j.ejmg.2024.104948 -
BMC Gastroenterology Aug 2023Milligan-Morgan hemorrhoidectomy (MMH) is the most widely used surgical procedure because of its precise curative effect, but it has the disadvantages such as obvious...
Milligan-Morgan hemorrhoidectomy combined with non-doppler hemorrhoidal artery ligation for the treatment of grade III/IV hemorrhoids: a single centre retrospective study.
BACKGROUND
Milligan-Morgan hemorrhoidectomy (MMH) is the most widely used surgical procedure because of its precise curative effect, but it has the disadvantages such as obvious postoperative pain and bleeding. To retrospectively evaluate the efficacy and safety of MMH combined with non-Doppler hemorrhoidal artery ligation (MMH + ND-HAL) for the treatment of grade III/IV hemorrhoids.
METHODS
We conducted a retrospective analysis of 115 patients with grade III/IV hemorrhoids, 53 patients had received MMH + ND-HAL, and the remaining 62 patients received MMH. We collected and compared demographic and clinical characteristics of both groups, including intraoperative blood loss, postoperative visual analog scale (VAS) for pain, analgesic consumption, postoperative bleeding, perianal incision edema, urinary retention, anal stenosis, anal incontinence incidence, recurrence rate (prolapse or bleeding), and patient satisfaction.
RESULTS
The VAS pain score of the first postoperative defecation and at the postoperative 12 h, 1 day, 2 days, 3 days, and 7 days, as well as the total analgesic consumption within 7 days, for the MMH + ND-HAL group were lower than those for the MMH group (P < 0.05). The intraoperative blood loss, the incidence of postoperative bleeding, perianal incision edema, and urinary retention in the MMH + ND-HAL group was lower than that in the MMH group (P < 0.05). No anal stenosis or anal incontinence occurred in either group. At follow-up by telephone or outpatient 12 months after surgery, the recurrence rate (prolapse or bleeding) was lower in the MMH + ND-HAL group than in the MMH group (P < 0.05), and satisfaction was higher in the MMH + ND-HAL group than in the MMH group (P < 0.05).
CONCLUSIONS
MMH + ND-HAL was a satisfactory surgical modality for treating III/IV hemorrhoids.
Topics: Humans; Retrospective Studies; Hemorrhoidectomy; Hemorrhoids; Constriction, Pathologic; Urinary Retention; Anorectal Malformations; Postoperative Hemorrhage; Blood Loss, Surgical; Pain, Postoperative; Arteries
PubMed: 37653473
DOI: 10.1186/s12876-023-02933-x -
Cold Spring Harbor Molecular Case... Dec 2023Anorectal malformations (ARMs) constitute a group of congenital defects of the gastrointestinal and urogenital systems. They affect males and females, with an estimated...
Anorectal malformations (ARMs) constitute a group of congenital defects of the gastrointestinal and urogenital systems. They affect males and females, with an estimated worldwide prevalence of 1 in 5000 live births. These malformations are clinically heterogeneous and can be part of a syndromic presentation (syndromic ARM) or as a nonsyndromic entity (nonsyndromic ARM). Despite the well-recognized heritability of nonsyndromic ARM, the genetic etiology in most patients is unknown. In this study, we describe three siblings with diverse congenital anomalies of the genitourinary system, anemia, delayed milestones, and skeletal anomalies. Genome sequencing identified a novel, paternally inherited heterozygous Caudal type Homeobox 2 () variant (c.722A > G (p.Glu241Gly)), that was present in all three affected siblings. The variant identified in this family is absent from population databases and predicted to be damaging by most in silico pathogenicity tools. So far, only two other reports implicate variants in with ARMs. Remarkably, the individuals described in these studies had similar clinical phenotypes and genetic alterations in encodes a transcription factor and is considered the master regulator of gastrointestinal development. This variant maps to the homeobox domain of the encoded protein, which is critical for interaction with DNA targets. Our finding provides a potential molecular diagnosis for this family's condition and supports the role of in anorectal anomalies. It also highlights the clinical heterogeneity and variable penetrance of ARM predisposition variants, another well-documented phenomenon. Finally, it underscores the diagnostic utility of genomic profiling of ARMs to identify the genetic etiology of these defects.
Topics: Male; Female; Humans; Anal Canal; Anorectal Malformations; Anus, Imperforate; Limb Deformities, Congenital; Urogenital System; CDX2 Transcription Factor
PubMed: 37816608
DOI: 10.1101/mcs.a006294 -
BMC Pregnancy and Childbirth Aug 2023Urorectal septum malformation sequence (URSMS) is characterized by incomplete partitioning of the genital, rectal, and urinary tracts, resulting in a severe form of...
BACKGROUND
Urorectal septum malformation sequence (URSMS) is characterized by incomplete partitioning of the genital, rectal, and urinary tracts, resulting in a severe form of anorectal malformation. The partial URSMS, also known as the persistent cloaca, represents a milder variant where a single perineal opening serves as a passage for the urinary, gastrointestinal, and reproductive tracts.
CASE PRESENTATION
We present a rare case of partial URSMS accompanied by duplicated vagina and uterus, hydronephrosis, ascites, and anal atresia.
CONCLUSIONS
This case report describes the sonographic findings at different stages of pregnancy and their changes throughout gestation.
Topics: Female; Pregnancy; Humans; Pregnancy Trimester, First; Ultrasonography; Ascites; Hydronephrosis; Ultrasonography, Prenatal
PubMed: 37620796
DOI: 10.1186/s12884-023-05939-1 -
Journal of Pediatric Surgery May 2024Hirschsprung's disease (HD) is a rare and complex malformation. The corrective operation is challenging and schedulable. The complete care situation for the corrective...
BACKGROUND
Hirschsprung's disease (HD) is a rare and complex malformation. The corrective operation is challenging and schedulable. The complete care situation for the corrective surgery for HD in Germany is uninvestigated.
METHODS
For the years 2016-2022, the microdata of the diagnosis-related groups (DRG) -statistics provided by the Research Data Center of the German Federal Statistical Office were accessed. All hospital stays for corrective surgery of HD in patients aged 0-17 were analyzed for patient's comorbidities, treatment characteristics and hospital structures. The occurrence of severe early postoperative complications during the hospital stay were documented.
RESULTS
The care structure for HD in Germany is decentralized with 109 hospitals performing 1199 corrective surgeries in 7 years. 75% of the participating hospitals performed three or less cases per year and 55 participating hospitals did not perform corrective surgery for HD each year. Early postoperative complications were common with at least one severe early complication in 18.6% of the cases. With an overall low case load per hospital, a volume outcome relationship cannot be established within Germany. Compared to international high volume centers the quality of outcomes for some of the investigated parameters was reduced. Despite the establishing of centers of expertise by the European reference network ERNICA for the treatment of HD no trend towards centralization occurred in Germany.
CONCLUSIONS
The corrective surgery for HD in Germany is decentralized and results in an overall high rate of early complications. The comparison with international studies from high-volume centers indicates potential for improvement for the corrective surgery of HD. Centralization remains essential for the improvement of care for patients with HD.
PubMed: 38811258
DOI: 10.1016/j.jpedsurg.2024.05.004