Malformaciones müllerianas: actualización y revisión a propósito de casos clínicos, 2022 / Müllerian malformations: update and review of clinical cases, 2022

Las malformaciones müllerianas (MM) son un grupo de anomalías estructurales originadas por fallas de desarrollo de los conductos paramesonéfricos o de Müller durante las primeras 16 semanas de gestación. Un oportuno diagnóstico y una correcta clasificación permiten ofrecer el mejor manejo y diferenciar aquellas pacientes que requieren tratamiento quirúrgico. Se realizó una revisión de la literatura sobre MM en las bases de datos Epistemonikos, SciELO, Cochrane y PubMed. Se rescataron todas las pacientes ingresadas con diagnóstico de MM. En el año 2021, la American Society of Reproductive Medicine publicó un consenso en el que se estandarizó la nomenclatura, se amplió el espectro y se simplificó la clasificación. La clínica es variada, e incluye pacientes asintomáticas cuyo diagnóstico es un hallazgo por imágenes. Los mejores estudios imagenológicos son la resonancia magnética (RM) y la ultrasonografía 3D, dejando la histeroscopia y la laparoscopia (método de referencia) como procedimiento diagnóstico-terapéutico. Se presentan casos clínicos desarrollados durante el primer trimestre de 2022. Recomendamos la utilización sistemática de la RM para el diagnóstico de anomalías complejas u obstructivas del aparato genital. El tratamiento de estas patologías debe ser realizado por ginecólogos endoscopistas expertos, e incluye tratamiento médico y quirúrgico, el cual debe ser enfocado en cada paciente dependiendo del tipo de MM y de los deseos de fertilidad.

Müllerian malformations (MM) are a group of structural anomalies caused by developmental failure of the paramesonephric or Müllerian ducts during the first 16 weeks of gestation. Timely diagnosis and classification allow us to offer the best management and to differentiate those patients who require surgical treatment. Literature review on MM in Epistemonikos, SciELO, Cochrane and PubMed databases. All patients admitted with a diagnosis of MM were rescued. In 2021, the American Society of Reproductive Medicine publishes a consensus where it standardizes the nomenclature, broadens the spectrum, and simplifies the classification. The clinical picture is varied and includes asymptomatic patients whose diagnosis is an imaging finding. The best imaging studies are magnetic resonance imaging (MRI) and 3D ultrasonography, leaving hysteroscopy and laparoscopy (gold standard) as diagnostic therapeutic. Clinical cases developed during the first trimester 2022 are presented. We recommend the routine use of MRI for the diagnosis of complex and/or obstructive anomalies of the genital tract. The treatment of these pathologies should be performed by expert endoscopic gynecologists and include medical and surgical treatment, which should be focused on each patient, depending on the type of MM and fertility desires.

Observed birth prevalence of congenital anomalies among live births at a regional facility in KwaZulu Natal Province, South Africa.

Congenital disorders (CDs), defined as abnormalities in structure or function present at birth, are an important contributor to the disease burden in developing countries. The size and extent of the problem in South Africa (SA) are unknown due to the lack of recent, reliable, observed data on CDs. To address this empirical data gap, this study aimed to measure the birth prevalence of congenital anomalies (a sub-set of CDs) and to describe the pattern of these anomalies at a regional hospital in KwaZulu Natal (KZN), SA. A retrospective, observational, descriptive review of congenital anomalies diagnosed within the neonatal service at Edendale Hospital (EDH), KZN was undertaken between January and December 2018. All EDH in-house live births diagnosed and notified with congenital anomalies by discharge were included. Stillbirths, other pregnancy losses and out-born neonates were excluded. Data were actively collected from the birth register, neonatal admission register, and the individual paper-based surveillance tool developed by the National Department of Health. The in-facility birth prevalence rate for congenital anomalies was 15.57 per 1 000 live births. The most observed system was musculoskeletal (32%) followed by circulatory system anomalies (19%). When the observed birth prevalence rates of key congenital anomalies were compared with previously published, modelled South African data, no significant difference was found. This study responds to the paucity of birth prevalence data on CDs overall and offers evidence that obvious, structural CDs (congenital anomalies) need to be addressed in the SA public health system.

Laryngeal cleft: A literature review.

INTRODUCTION: Laryngeal cleft is a congenital condition in which an opening in the posterior laryngotracheal wall allows food and liquid to pass from the esophageal lumen to the airway and causes aspiration. The severity of a laryngeal cleft is measured using the Benjamin-Inglis system, and can be managed conservatively or with a variety of surgical options With increased awareness, higher suspicion among primary physicians, advanced technology and improved intensive neonatal care services, more babies with laryngeal clefts survive in the modern era. Therefore, the focus has shifted from infant survival to treatment of laryngeal clefts and the challenging, complex medical conditions they create. OBJECTIVE: To understand current laryngeal cleft management and post-operative outcomes. METHODS: Literature review of laryngeal cleft studies from 2010 to 2021. RESULTS: A total of 1033 patients were included. Based on 415 cases for whom sufficient classification data were available, the predominate symptom for patients with type I, III, and IV clefts is swallowing dysfunction, while the predominant symptoms for patients with type II clefts are stridor and aspiration. A wide variety of comorbidities involving several major organs has been reported with laryngeal clefts, which tend to impact clinical outcomes negatively. Approximately 19% of type I clefts have been treated conservatively successfully, but the majority was treated surgically. Most studies that used injection laryngoplasty for type I clefts reported highly successful repairs without complications or delays in additional procedures. Ninety-eight percent all type II clefts were treated with endoscopic repair; 87% of patients with type III clefts received endoscopic repair; and 66% of patients with type IV clefts underwent open surgery. Approximately 62% of resolved cases were reported within 12 months, while 50.87% of failed cases were reported within 6 weeks. CONCLUSIONS: There are multiple treatment approaches, each of which may be applicable depending on factors such as laryngeal cleft type, severity of presentation, and comorbidities. Conservative approaches appear to be most useful for type I clefts or in patients with mild symptoms, while surgical management can be considered for any type of laryngeal cleft. The benefit of injection laryngoplasty, endoscopic repair and open surgery can also vary, but injection laryngoplasty and endoscopic repair are used most commonly. Open surgery should be to be considered if patients present with severe cleft types or if it is unsafe to perform other surgical techniques. Familiarity with this literature review should help clinicians understand clinical characteristics, direct medical management, and guide successful resolution of laryngeal clefts.

Association of Gestational Opioid Exposure and Risk of Major and Minor Congenital Malformations.

Importance: The rapid increase of opioid-related overdoses and deaths has become a public health concern in the US. Use of prescription opioids in pregnant women has increased; results from teratogenicity studies remain controversial. Objective: To evaluate the association between maternal prescription opioid use (excluding opioid use disorders) during pregnancy and the incidence of congenital malformations. Design, Setting, and Participants: This retrospective population-based cohort study evaluated linked Rhode Island Medicaid claims and vital statistics data of live births from January 1, 2008, to December 31, 2016. Data analysis was conducted from May 1, 2019, to May 31, 2020. Women who had a live birth during the study period, but no cancer or opioid use disorder, were followed up from 3 months before pregnancy to the end of pregnancy. Exposures: Data on the mother's prescription opioid exposure were obtained through pharmacy claims and exposure was defined as dispensing of at least 1 prescription opioid during the first, second, or third trimester. Main Outcomes and Measures: The primary outcome was overall major or minor congenital malformations, defined as 1 or more major or minor congenital malformation. Secondary outcomes were defined as 10 specific categories of congenital malformations classified by organ systems using International Classification of Diseases diagnosis codes. Results: Of 12 424 included pregnancies, 891 mothers (7.2%) received prescription opioids during pregnancy and 3153 infants (25.4%) were diagnosed with major or minor congenital malformations. Comparing prescription opioid exposure vs nonexposure, no excess risk was observed for major birth defects in infants with opioid exposure in trimester 1 (adjusted relative risk [aRR], 1.40; 95% CI, 0.84-2.34), and higher risks were found for overall minor birth defects in trimester 3 (aRR, 1.26; 95% CI, 1.04-1.53) and minor birth defects in the musculoskeletal system in trimester 2 (aRR, 1.50; 95% CI, 1.10-2.03) and trimester 3 (aRR, 1.65; 95% CI, 1.23-2.22). Significant dose responses in selected minor malformations and effects of specific opioids were also identified. Hydrocodone in trimester 2 (aRR, 3.01; 95% CI, 1.80-5.03) and oxycodone in trimester 3 (aRR, 2.43; 95% CI, 1.37-4.02) were associated with plagiocephaly, polydactyly, and other specified congenital deformities of the hip. Conclusions and Relevance: The findings of this study suggest a higher risk of minor congenital malformations associated with use of prenatal prescription opioids in trimester 3, which seems to be dose-dependent. Further investigation is needed to establish causality and explore the physiologic plausibility of the association.

Injection Laryngoplasty for the Treatment of Type 1 Laryngeal Clefts: A Single Institution Experience.

OBJECTIVE: Standards for treatment of laryngeal clefts remain poorly defined. There are no large case series that report the efficacy of injection laryngoplasty (IL) in the treatment of pediatric Type 1 laryngeal clefts (LC-1). The objective of this study is to measure the effect of IL in young children with LC-1. METHODS: A retrospective case series of 130 patients was completed over 3 years at a at a single institution included patients aged 1 month to 8 years, diagnosed with aspiration and penetration issues during swallowing based on a Videofluoroscopic Swallow Study (VFSS). Patients underwent surgical evaluation and intervention using carboxymethylcellulose gel injection. Collected data points included age in months at time of first injection, gender, race, pre- and post-operation VFSS scores, number of injections, co-morbidities and post-operative complications. VFSS scores were evaluated pre- and post-operatively to assess efficacy of intervention. A secondary outcome was efficacy in patients with aspiration compared to those with penetration alone. RESULTS: This study included 77 male and 53 female patients. Sixty-two patients (48%) demonstrated a significant post-operative improvement in their swallowing function (P < .05). There were no statistical differences in age, number of injections, or the volume of the first injection. Patients that showed a post-operative improvement in swallowing function were on average 5 months older and had more severe aspiration and penetration compared to those who did not demonstrate a post-operative benefit and underwent less injections. The volume of injection did not appear to play a role in the success rate. CONCLUSION: Injecting the inter-arytenoid area in patients with LC-1 appears to confer some benefit to close to half of our patient population. Successful procedures seemed to occur in patients with more severe aspiration and penetration and older age.

Management of Type 1 Laryngeal Clefts: A Systematic Review and Meta-analysis.

OBJECTIVE: Endoscopic surgical management or injection laryngoplasty of type 1 laryngeal clefts in pediatric patients is used in those who do not respond to conservative treatment. This study compares conservative treatment, endoscopic surgical repair, and injection laryngoplasty for the management of type 1 laryngeal clefts. DATA SOURCES: PubMed, Web of Science, and Embase. REVIEW METHODS: This systematic review included studies of patients with type 1 laryngeal clefts who were managed with conservative treatment, injection laryngoplasty, or endoscopic repair, and all studies reported postintervention outcomes. Two independent investigators assessed study eligibility, rated the quality, and extracted data for analysis. A random effects model was used for meta-analysis of pooled data. RESULTS: Of the 1209 studies identified, 27 met inclusion criteria. There were 543 patients with type 1 laryngeal clefts represented in the studies, with outcomes reported for 537. Conservative therapy had a 52% (95% CI, 37%-66%; I2 = 63%) success rate at improving symptoms, while endoscopic repair had a significantly higher percentage resolution of symptoms (70%; 95% CI, 59%-79%; I2 = 62%, P < .001) as compared with conservative treatment (51%; 95% CI, 36%-65%; I2 = 62%) or injection laryngoplasty (36%; 95% CI, 20%-57%; I2 = 70%). The quality scores of the studies ranged from 7 to 12 out of 16. CONCLUSION: Our systematic review demonstrated significant improvement and resolution of symptoms for patients with type 1 laryngeal clefts treated with endoscopic repair as compared with other modalities. More prospective and controlled studies comparing treatment strategies with validated instruments to measure outcomes are necessary to determine their efficacy in the management of type 1 laryngeal clefts.

Anatomy-based diagnostic criteria for complex body wall anomalies (CBWA).

BACKGROUND: Precise diagnosis and classification of CBWA cases can be challenging. BSA are considered when there is a body wall anomaly, skeletal abnormalities, and the umbilical cord is anomalous, absent or rudimentary, and LBWC when there is a body wall and structural limb anomalies with or without craniofacial abnormalities. METHODS: PubMed was searched for body stalk anomalies, limb body wall complex, body stalk anomalies and amniotic band syndrome, and limb body wall complex and amniotic band syndrome. Sixty nine articles were selected and reviewed. This article systematically classifies the variants of CBWA in 218 cases, the study is based on the embryological and anatomical criteria established by Martín-Alguacil and Avedillo to study BSA in the pig. RESULTS: Eight different BSA presentation were defined. One hundred and eighty nine cases were classified as BSA, from which five were Type I, nine Type II, 20 Type III, 57 Type IV, 11Type V, 24 Type VI, 11 Type VII, and 52 Type VIII. Twenty six cases presented cranial phenotype, 114 abdominal phenotype, 42 cranio/abdominal overlapping phenotype, and five without defined phenotype. In addition, 52 BSA cases presented some kind of spinal dysraphism (SPDYS) and were classified as BSA/SPDYS, most of these cases did not show structural limb anomalies, except for three cases and were classified as LBWC/SPDYS. CONCLUSION: This morphology-based classification represents a useful tool for clinical diagnosis, it helps to quantify and to evaluate CBWA in a precise, objective manner.

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.

BACKGROUND: Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four severity categories (mild, moderate, severe, and profound) to 176 genes screened by ECS. Disease traits defining severity categories in the algorithm were then mapped to four severity-related ECS panel design criteria cited by the American College of Obstetricians and Gynecologists (ACOG). METHODS: Eight genetic counselors (GCs) and four medical geneticists (MDs) applied the severity algorithm to subsets of 176 genes. MDs and GCs then determined by group consensus how each of these disease traits mapped to ACOG severity criteria, enabling determination of the number of ACOG severity criteria met by each gene. RESULTS: Upon consensus GC and MD application of the severity algorithm, 68 (39%) genes were classified as profound, 71 (40%) as severe, 36 (20%) as moderate, and one (1%) as mild. After mapping of disease traits to ACOG severity criteria, 170 out of 176 genes (96.6%) were found to meet at least one of the four criteria, 129 genes (73.3%) met at least two, 73 genes (41.5%) met at least three, and 17 genes (9.7%) met all four. CONCLUSION: This study classified the severity of a large set of Mendelian genes by collaborative clinical expert application of a trait-based algorithm. Further, it operationalized difficult to interpret ACOG severity criteria via mapping of disease traits, thereby promoting consistency of ACOG criteria interpretation.

Modified Woodward Technique for Sprengel Deformity and a Modification of the Cavendish Classification.

INTRODUCTION: Sprengel deformity (SD) is the most common congenital anomaly of the shoulder. Surgery is required for moderate and severe forms. The modified Woodward procedure is the most widely used procedure for the surgical treatment. METHODS: SD patients who applied to our institution between 2005 and 2018 were retrospectively reviewed. A modification of the Cavendish classification was used for preoperative and postoperative evaluations. RESULTS: Eighteen shoulders of 17 (mean age: 8.5 y, range: 2 to 18 y, 5 males and 12 females) patients were included. The right, left, and bilateral shoulders were affected in 9, 7, and 1 cases, respectively. The mean follow-up time was 62.9 months (12 to 161 mo). Preoperatively, 3 shoulders were type 2, 12 shoulders were type 3, and 3 shoulders were type 4 according to the Cavendish classification and 2 shoulders were type 0, 6 shoulders were type 1, and 10 shoulders were type 2 postoperatively. CONCLUSIONS: Periscapular congenital malformations play a significant role in range of motion limitation. The modified Woodward procedure is a viable alternative in the surgical treatment of SD and the proposed modification of Cavendish classification (grade 0) is functional.

The incidence of fatal fetal anomalies associated with perinatal mortality in Ireland.

OBJECTIVE: The term fatal fetal anomaly (FFA) describes a condition likely to lead to death of the fetus in utero or within 28 days of birth. This study aimed to identify what congenital anomalies are responsible for perinatal death and whether they are classified as an FFA in accordance with criteria outlined in Irish legislation. METHODS: Anonymised data pertaining to perinatal deaths from 2011 to 2016 in Ireland were obtained from the National Perinatal Epidemiology Centre. Secondary data analysis was conducted using SPSS. RESULTS: Of the 2638 perinatal deaths, 939 (36%) had a congenital anomaly. Nearly half was chromosomal (43%, n = 406 of 939) with 36% of the cases (n = 333 of 938) having more than one anomaly. Additional information was available for 777 of these congenital anomaly, of which 42% (n = 328) could be classified an FFA. CONCLUSION: This study identified that less than half of the congenital anomalies could be classified as an FFA; however, all were fatal. This acknowledges the complexity of these cases. In isolation, the congenital anomaly may not be fatal, but combined as multiorgan system anomalies, it is. Knowledge is required to inform clinical practice and counselling of parents who receive such a diagnosis.

Incidence, spectrum and outcome of congenital anomalies seen in a neonatal intensive care unit in Southern Nigeria.

BACKGROUND: Congenital anomalies (CAs) refer to defects that are present in a newborn but occurred during intrauterine life. They can be due to genetic, modifiable environmental or multifactorial causes. There was no prior report of their burden in our state. AIMS: This study aims to describe the incidence, spectrum, predisposing factors and outcome of CAs in our setting. METHODS: It was a total population study of all neonates with major birth defects admitted into the unit during the study period. Their clinical-demographic features, diagnoses and outcome were entered into an excel sheet. Clinical detection of birth defects was based on standard diagnostic criteria. The data were analysed using IBM SPSS Statistics for Windows, Version 20.0. Armonk, NY: IBM Corp. Patterns and outcome of birth defects were presented as proportions. Selected characteristics were tested for possible association with birth defect using Fisher's exact test. The level of significance was set at P < 0.05. RESULTS: The incidence of major CAs was 4.3/1000 live births. Female neonates were more affected (59.0%). Participants' mean gestational age was 37.7 ± 3.3 weeks. Central nervous system anomalies were the most common (38.5%) birth defects. These were followed by musculoskeletal, body wall and digestive system anomalies: 28.2%, 23.1% and 10.3%, respectively. One-third (33.3%) of the infants had multiple anomalies. Nearly three quarters of them (74.0%) were referred, 18.0% died while 5.0% were discharged alive. CONCLUSION: A wide range of CAs occur in our setting with dire consequences. Provision of relevant specialised multidisciplinary care is desirable. Furthermore, pubic enlightenment on its modifiable possible causes can reduce the burden.

The impact of the ICD-9-CM to ICD-10-CM transition on the prevalence of birth defects among infant hospitalizations in the United States.

BACKGROUND: Many public health surveillance programs utilize hospital discharge data in their estimation of disease prevalence. These databases commonly use the International Classification of Diseases (ICD) coding scheme, which transitioned from the ICD-9 clinical modification (ICD-9-CM) to ICD-10-CM on October 1, 2015. This study examined this transition's impact on the prevalence of major birth defects among infant hospitalizations. METHODS: Using data from the Agency for Health Care Research and Quality-sponsored National Inpatient Sample, hospitalizations during the first year of life with a discharge date between January 1, 2012 and December 31, 2016 were used to estimate the monthly national hospital prevalence of 46 birth defects for the ICD-9-CM and ICD-10-CM timeframes separately. Survey-weighted Poisson regression was used to estimate 95% confidence intervals for each hospital prevalence. Interrupted time series framework and corresponding segmented regression was used to estimate the immediate change in monthly hospital prevalence following the ICD-9-CM to ICD-10-CM transition. RESULTS: Between 2012 and 2016, over 21 million inpatient hospitalizations occurred during the first year of life. Among the 46 defects studied, statistically significant decreases in the immediate hospital prevalence of five defects and significant increases in the immediate hospital prevalence of eight defects were observed after the ICD-10-CM transition. CONCLUSIONS: Changes in prevalence were expected based on changes to ICD-10-CM. Observed changes for some conditions may result from variation in monthly hospital prevalence or initial unfamiliarity of coders with ICD-10-CM. These findings may help birth defects surveillance programs evaluate and interpret changes in their data related to the ICD-10-CM transition.

Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries.

BACKGROUND: Few studies have systematically evaluated birth defect co-occurrence patterns, perhaps, in part, due to the lack of software designed to implement large-scale, complex analytic methods. METHODS: We created an R-based platform, "co-occurring defect analysis" (CODA), designed to implement analyses of birth defect co-occurrence patterns in birth defect registries. CODA uses an established algorithm for calculating the observed-to-expected ratio of a given birth defect combination, accounting for the known tendency of birth defects to co-occur nonspecifically. To demonstrate CODA's feasibility, we evaluated the computational time needed to assess 2- to 5-way combinations of major birth defects in the Texas Birth Defects Registry (TBDR) (1999-2014). We report on two examples of pairwise patterns, defects co-occurring with trisomy 21 or with non-syndromic spina bifida, to demonstrate proof-of-concept. RESULTS: We evaluated combinations of 175 major birth defects among 206,784 infants in the TBDR. CODA performed efficiently in the data set, analyzing 1.5 million 5-way combinations in 18 hr. As anticipated, we identified large observed-to-expected ratios for the birth defects that co-occur with trisomy 21 or spina bifida. CONCLUSIONS: CODA is available for application to birth defect data sets and can be used to better understand co-occurrence patterns. Co-occurrence patterns elucidated by using CODA may be helpful for identifying new birth defect associations and may provide etiological insights regarding potentially shared pathogenic mechanisms. CODA may also have wider applications, such as assessing patterns of additional types of co-occurrence patterns in other large data sets (e.g., medical records).

[Congenital middle ear malformation: clinical analysis and discussion of classification].

Objective: To analyze the clinical characteristics and appropriate surgical procedures, and discuss the classification of congenital middle ear malformation. Methods: All cases were from the Center of Otorhinolaryngology, the Sixth Medical Center of Department of PLA General Hospital. All of these cases, including 26 male patients (ears) , 10 female patients (11 ears) , aged from 7 to 57 years old, had normal external auditory canal, tympanic membrane, conductive hearing loss, type A tympanogram and negative Gelle's test. Tympanoplasty was performed in all cases. The deformity was classified to three types,i.e., Type I (stapes foot plate mobility): Ⅰa, ossicular chain deformity with normal stapes suprastructure; Ⅰb, ossicular chain deformity with abnormal stapes suprastructure; Type Ⅱ (stapes foot plate fixation): Ⅱ a,normal ossicular chain, Ⅱ b, ossicular chain malformation; and Type Ⅲ: vestibular window osseous atresia or undeveloped, or with round window atresia. The malformation of type Ⅱ and Ⅲ may be accompanied with abnormal facial nerve. In addition, the papers on middle ear malformation published from 1982 to 2017 were analyzed retrospectively. The clinical data of 451 ears malformation were summarized. Results: According to the revisional classification criteria in 37 ear samples from our hospital, 20 ears were type I. 6 type Ⅰa cases were used PORP (partial ossicular replacement prosthesis) to reconstruct the ossicular chain; 14 type Ⅰb cases were used TORP (total ossicular replacement prosthesis) to reconstruct the ossicular chain. For the 5 ears of type Ⅱ, 2 of which were type Ⅱ a and 3 were type Ⅱ b. 4 ear samples of type Ⅱ were implanted with Piston ossicular prosthesis, 1 was implanted with TORP in which the ossificated foot plate was removed with periosteum preserved. 12 ear samples were type Ⅲ, with vestibular window osseous atresia, facial nerve malformation, and stapes suprastructure malformation. The pistons ossicular prosthesis were implanted in vestibular window in 3 ears with facial nerve covering vestibular window partially. The surgery had to be given up in 5 ears, and TORP was implanted in 4 ears at the opening with preserved periosteum at the beginning of the tympanic scala because of facial nerve covering vestibular window totally. 30 ears with complete follow-up data had no sensorineural hearing loss and the average air-bone conduction decreased 23.3±10.7 dB (P<0.05).There were 234 ears of type Ⅰ in 451 ears of congenital middle ear malformation reported in the literature. 113 of which were type Ⅰa, the basic surgery was ossicular chain shaking and artificial or autogenous PORP implantation. Type Ⅰb was 121 ears, with autogenous or artificial TORP and PORP. Type Ⅱ was125 ears, including type Ⅱa 22 ears, Ⅱb 60 ears, and no subclassification for 43 ears. The surgery of type Ⅱ was the same as otosclerosis. The vestibular window atresia of type Ⅲ was 92 ears, the surgery of 17 ears had to be abandoned, the other ears underwent vestibular window, promontory or semicircular canal opening to reconstruct hearing with Piston, autogenous or artificial TORP. Conclusion: Referring to the classification of congenital middle ear malformation combining with appropriate surgical materials and methods, otologists can better understand and choose appropriate surgical method to the middle ear malformation.

Exploring classification of birth defects severity in national hospital discharge databases compared to an active surveillance program.

OBJECTIVE: To explore the extent to which the severity of birth defects could be differentiated using severity of illness (SOI) and risk of mortality (ROM) measures available in national discharge databases. METHODS: Data from the 2012-14 National Inpatient Sample (NIS) was used to identify hospitalizations with one or more major birth defects reported annually to the National Birth Defects Prevention Network using the International Classification of Diseases, Ninth Edition, Clinical Modification (ICD-9-CM) diagnosis codes. Each hospitalization also contained a 4-level SOI and 4-level ROM classification measure. For each birth defect and for each individual birth defect-related ICD-9-CM code, we calculated mean and median SOI and ROM, the proportion of hospitalizations in each level of SOI and ROM, the inpatient mortality rate, and level of agreement between various existing or derived severity proxies in the NIS and the Texas Birth Defects Registry (TBDR). RESULTS: Mean SOI ranged from 1.5 (cleft lip alone) to 3.7 (single ventricle), and mean ROM ranged from 1.1 (cleft lip alone) to 3.9 (anencephaly). As a group, critical congenital heart defects had the highest average number of co-occurring defects, mean SOI, and ROM, whereas orofacial and genitourinary defects had the lowest SOI and ROM. We found strong levels of agreement between TBDR severity classifications and NIS severity classifications defined using Level 3 or 4 SOI or ROM Level 3 or 4. CONCLUSIONS: This preliminary investigation demonstrated how severity indices of birth defects could be differentiated and compared to a severity algorithm of an existing surveillance program.

Prevalence of structural birth defects in IVF-ICSI pregnancies resulting from autologous and donor oocytes in Indian sub-continent: Results from 2444 births.

INTRODUCTION: This study was conducted to evaluate and compare the incidence of birth defects in In-Vitro Fertilization-Intra Cytoplasmic Sperm Injection (IVF-ICSI) pregnancies with autologous and donor oocytes. As a secondary outcome, the prevalence of birth defects in IVF-ICSI pregnancies was compared with those from spontaneous conceptions in India. MATERIAL AND METHODS: This retrospective study included 2444 births resulting from IVF-ICSI cycles from autologous (n = 1743) and donor oocytes (n = 701) during a 3-year period in an Indian infertility center. Birth defects, if any, were noted antenatally and followed till the neonatal period, in case of live birth. RESULTS: The overall prevalence of birth defects in IVF-ICSI pregnancies in this study was 29/2444 (118.6/10 000 births) and the most common congenital anomaly was cardiac malformation (32.7/10 000 births) followed by genitourinary (28.6/10 000 births). The risks of birth defects resulting from autologous and donor oocytes did not differ (114.7/10 000 vs 128.38/10 000; P > 0.05). However, pregnancies resulting from autologous oocytes had a higher trend of gastrointestinal birth defects (20.5/10 000 births vs 0), though not statistically significant. The risk of cardiovascular birth defects resulting from IVF-ICSI pregnancies was much higher compared with the natural conceptions in India (32.7/10 000 vs 12.7/10 000 births; P = 0.03), whereas the risk of central nervous system malformations was much lower (8.1/10 000 vs 60.18/10 000 births; P = 0.005). CONCLUSIONS: Overall, there was no significant difference in birth defects resulting from IVF-ICSI with autologous or donor oocytes. The births resulting from IVF-ICSI pregnancies did not tend to have a higher rate of birth defects a compared with natural conceptions. The differences in the prevalence of certain birth defects (cardiovascular or central nervous system) reported in IVF-ICSI pregnancies may be due to improved surveillance modalities and early detection in pregnancies following IVF-ICSI. A study with larger number of sample size will give us better understanding of the prevalence of reported incidence in this study.

Spectrum of Type I and Type II Syndromes and Associated Malformations in Chinese Patients with Mayer-Rokitansky-Küster-Hauser Syndrome: A Retrospective Analysis of 274 Cases.

STUDY OBJECTIVE: To analyze the spectrum of type I and type II malformations in Chinese patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: This was a cross-sectional descriptive study that used data from a National Clinical Research Center for Obstetrical and Gynecological Diseases of China, reviewed from January 2009 to July 2017. Data of in- and outpatients with MRKH syndrome were reviewed and analyzed. RESULTS: A total of 274 cases were included in the analysis: 197/274 (71.9%) with type I MRKH syndrome and the remaining 77/274 (28.1%) with type II MRKH syndrome. The rate of concurrent deformities was 32/244 (13.1%) for renal malformation, and 49/125 (39.2%) for skeletal malformation. Nine patients had renal and skeletal malformations (Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia). Cardiac, neurologic, and other malformations (eg, anal atresia) were sporadic. The percentage of type II MRKH syndrome in our cohort was considerably higher than that reported 43/594 (7.2%) in a previous large-scale study in southern China, but lower than that 489/1259 (46.2%) reported for Caucasian individuals. CONCLUSION: The spectrum of type I and type II MRKH syndrome varies across different races and geological locations.

Severity of ulnar deficiency and its relationship with lower extremity deficiencies.

To assess the characteristics of ulnar deficiency (UD) and their relationship to lower extremity deficiencies, we retrospectively classified 82 limbs with UD in 62 patients, 55% of whom had femoral, fibular, or combined deficiencies. In general, UD severity classification at one level (elbow, ulna, fingers, thumb/first web space) statistically correlated with similar severity at another. Ours is the first study to show that presence of a lower limb deficiency is associated with less severe UD on the basis of elbow, ulnar, and thumb/first web parameters. This is consistent with the embryological timing of proximal upper extremities developing before the lower extremities.