Malformation Of External Ear Research Articles

External ear malformations and cardiac and renal anomalies: A systematic review and meta-analysis.

External Ear Malformations (EEM) continue to be a common malformation seen in the pediatric patient population. This study aims to further elucidate the correlation between EEM and cardiac and renal anomalies. A systematic review and meta-analysis to study the incidence of cardiac and renal anomalies associated with syndromic and isolated (EEM). The literature search spanned multiple databases, including Google Scholar, PubMed, Scopus, Web of Science, and MEDLINE. Studies must be focused on EEM and cardiac and/or renal anomalies. Only articles written in English were included. General study characteristics, number of EEM patients, number of cardiac and renal anomalies and whether cases were syndromic were extracted from the studies. Of 1,058 initial studies, 33 were included for meta-analyses. Mean JBI score for all included studies was 92.06%, indicating acceptable study quality. Interrater reliability was high, with a Cohen kappa score for all studies of 0.94. The resulting pooled prevalence of cardiac abnormalities was 20% [95% CI:13-28%], while renal abnormalities were 13% [95% CI: 7-20%]. The most common anomalies were VSD (3.725%) and renal agenesis (2.04%). The presence of syndrome data across studies was not a significant modifier of prevalence rates. Primary limitation is due to heterogeneity in individual study methodology and reporting standards. These results highlight a higher prevalence of cardiac-related conditions than renal anomalies in patients with both syndromic and non-syndromic EEM in the included studies, underscoring the need for thorough clinical evaluations.

Evaluation of the Curative Effects of Surgical Intervention in Cases of Congenital Malformation of the Ossicular Chain in Children.

Purpose: Congenital malformation of the ossicular chain results in challenges with hearing and language development in children. We aimed to analyze the clinical characteristics, prognosis, and surgical treatments of different types of congenital ossicular chain malformations in children. Methods: Eight cases (10 ears) treated between October 2019 and February 2022 were analyzed retrospectively. Patients were divided according to the location of the ossicular chain malformation and whether it was complicated by external ear malformation. Imaging, audiological examination, intraoperative exploration of the middle ear, and postoperative outcomes were recorded. Results: Group 1 incudostapedial joint deformity): 6 ears/60%; Group 2 (simple incus deformity): 2 ears/20%; Group 3 (simple malleus deformity): 2 ears/20%; Group A (with external ear malformations): 4 ears/40%; Group B (without external ear malformations): 6 ears/60%. The average hearing threshold before and after the operation was 51.25 ± 12.88 and 31.94 ± 12.96 dB, respectively. There were differences in the intervention effects of different malformed sites (Group 1: t = 5.139, P = .004; Group 2: t = 13.500, P = .047; Group 3: t = 15.000, P = .042). The effect of the intervention in cases of malformation with mobile stapes footplates was better than that with immobile stapes footplates (t = 4.082, P = .027). The effect of the intervention without external ear malformations was better than that with external ear malformations (t = 7.706, P = .001). Conclusions: The intervention yielded superior results in cases of malformation with mobile stapes footplates compared to those with immobile stapes footplates. Different intervention strategies should be determined through precise deformity assessments, with the degree of stapes mobility serving as a crucial factor in improving the prognosis.

Canal cholesteatoma: an alarming sequela of congenital aural atresia

Congenital aural atresia is an external ear malformation that may have diverse clinical presentations ranging from conductive hearing loss to the formation of canal cholesteatoma. Canal cholesteatoma, once developed can aggressively erode the bony boundaries of the middle ear cleft and lead to dangerous complications. Here we present the clinical outlook and surgical management of a child with congenital aural atresia with extensive canal cholesteatoma and complications. A twelve-year-old girl with congenital aural atresia and microtia of the right ear presented with right sided infra-auricular abscess with overlying skin ulceration. She also had right sided grade 4 facial paralysis. Pure tone audiometry revealed severe conductive hearing loss on the right side. In contrast, a high-resolution computed tomography scan showed extensive soft tissue on the right side completely destroying the posterior bony canal wall, with erosion of the sigmoid plate and the mastoid tip. We performed a right sided modified radical mastoidectomy and canal atresia repair along with the removal of the necrotic and infected tissues. The little girl recovered uneventfully with improved facial nerve function and without any sign of cholesteatoma recidivism. In congenital aural atresia, early surgical intervention is the key to prevent the formation of canal cholesteatoma and subsequent complications.

Identification of a novel phenotype of external ear deformity related to Coffin-Siris syndrome-9 and literature review.

De novo germline variants of the SRY-related HMG-box 11 gene (SOX11) have been reported to cause Coffin-Siris syndrome-9 (CSS-9), a rare congenital disorder associated with multiple organ malformations, including ear anomalies. Previous clinical and animal studies have found that intragenic pathogenic variant or haploinsufficiency in the SOX11 gene could cause inner ear malformation, but no studies to date have documented the external ear malformation caused by SOX11 deficiency. Here, we reported a Chinese male with unilateral microtia and bilateral sensorineural deafness who showed CSS-like manifestations, including dysmorphic facial features, impaired neurodevelopment, and fingers/toes malformations. Using trio-based whole-exome sequencing, a de novo missense variant in SOX11 (NM_003108.4: c.347A>G, p.Y116C) was identified and classified as pathogenic variant as per American College of Medical Genetics guidelines. Moreover, a systematic search of the literature yielded 12 publications that provided data of 55 SOX11 intragenic variants affecting various protein-coding regions of SOX11 protein. By quantitatively analyzing phenotypic spectrum information related to these 56 SOX11 variants (including our case), we found variants affecting different regions of SOX11 protein (high-mobility group [HMG] domain and non-HMG regions) appear to influence the phenotypic spectrum of organ malformations in CSS-9; variants altering the HMG domain were more likely to cause the widest range of organ anomalies. In summary, this is the first report of CSS with external ear malformation caused by pathogenic variant in SOX11, indicating that the SOX11 gene may be not only essential for the development of the inner ear but also critical for the morphogenesis of the external ear. In addition, thorough clinical examination is recommended for patients who carry pathogenic SOX11 variants that affect the HMG domain, as these variants may cause the widest range of organ anomalies underlying this condition.

Expert consensus on the application of bone-conducted hearing device in patients with congenital middle and external ear malformations

Expert consensus on the application of bone-conducted hearing device in patients with congenital middle and external ear malformations

Airway Challenges in a Child with Treacher Collins Syndrome having Ventricular Septal Defect, Oculofacial Malformations and Oesophageal Atresia: A Case Report

Treacher Collins Syndrome (TCS), also known as Franceschetti syndrome, is an autosomal dominant condition marked by various developmental anomalies confined to the head and face. It primarily affects craniofacial structures derived from the first and second branchial arches. Patients usually present with down-slanting palpebral fissures, mandibular hypoplasia, lower eyelid colobomas, external ear malformations, and hearing loss. Congenital heart defects and cryptorchidism are two other unusual anomalies. It is typically a bilateral condition. The symptoms and physical features of TCS can vary greatly from person to person. Some individuals may be affected so mildly that their condition goes undiagnosed, whereas others may develop serious, lifethreatening complications. Individuals with TCS may require specialised airway management due to a narrow mouth aperture and micrognathia. They are best served by an interprofessional team that can coordinate all aspects of their care. Timely detection and management can improve the quality of life for these patients. The present case report presents the airway challenges in an eightyear-old child with TCS who has congenital malformations and presented with swallowing difficulty, which was later diagnosed as oesophageal atresia.

Reabilitação auditiva com sistemas Baha® transcutâneo e percutâneo

ABSTRACT Purpose Longitudinally verify the influence of auditory tonal thresholds obtained with transcutaneous and percutaneous bone-anchored hearing aids on speech perception in individuals with external and/or middle ear malformation and chronic otitis media. Methods Observational, retrospective, longitudinal follow-up study of 30 unilateral users of the transcutaneous and percutaneous Baha® system for the collection of secondary data on pure tone thresholds obtained through free field audiometry and sentence recognition threshold in silence and noise in conditions: without the prosthesis; at the time of activation; in the first month of use (post 1); and in the third month (post 2). Results There was a significant difference between pure tone thresholds obtained at frequencies of 3 and 4kHz with better results for the percutaneous technique at all evaluation moments. For both systems, better performance was observed in sentence recognition in silence and in noise, with a significant difference in activation (p<0.001), but it remained stable during the other evaluation moments. The percutaneous system showed better benefit in recognizing sentences in noise only on activation (p=0.036), when compared to the transcutaneous system. Conclusion The percutaneous system provided better audibility for high frequencies; however, such audibility did not influence sentence recognition in the silent situation for both systems. For the noise situation, better responses were observed in the percutaneous system, however, the difference was not maintained over time.

Cause, severity, and efficacy of treatment for hearing loss in children with Trisomy 18: A single institution-based retrospective study.

Trisomy 18 is a common chromosomal aberration syndrome, characterized by variable clinical manifestations, including cardiovascular, pulmonary, genitourinary, and musculoskeletal findings, leading to a shorter survival and severe developmental delay in survivors. However, recently, intensive therapeutic intervention has allowed for prolonging survival. In terms of otological complications, only a limited number of relevant reports have been published. To demonstrate the characteristic of hearing loss (HL) in children with Trisomy 18, we retrospectively evaluated 22 patients (44 ears) by comprehensive auditory evaluation with the auditory steady-state response (ASSR) test and temporal bone computed tomography (CT). ASSR revealed that 20 patients (91%) had bilateral moderate to profound HL, more frequent and severe than that in Trisomy 21; among 42 ears having HL, 12 ears (29%) had conductive HL, and 26 ears (62%) had mixed HL. CT scans of 38 ears revealed that 34 ears (89%) had an external and middle ear malformation. Hearing aids (HA) were fitted in 17 patients (air and bone-conduction HAs). The threshold hearing with HA was improved in all of them. Accurate otological evaluation using ASSR and CT and intervention by HAs could be a feasible choice for children with Trisomy 18.

Conductive Hearing Loss in Children.

A variety of congenital and acquired disorders result in pediatric conductive hearing loss. Malformations of the external auditory canal are invariably associated with malformations of the middle ear space and ossicles. Isolated ossicular malformations are uncommon. Syndromes associated with external and middle ear malformations are frequently associated with abnormal development of first and second pharyngeal arch derivatives. Chronic inflammatory disorders include cholesteatoma, cholesterol granuloma, and tympanosclerosis.

Epidemiological Study and Surgical Outcome of Preauricular Sinus

Background: Preauricular sinus (PrAS) is a common congenital external ear malformation affecting mainly children. Symptomatic Preauricular sinus and asymptomatic for unusual scar marks, surgery is the mainstay of treatment. Due to variationsin presentation and recurrence, surgeons practice different surgical procedures to treatthe Preauricular sinus.
 Objectives: To compare the relative frequency and incidence of the Preauricular sinus and find the best surgical approach. Methods: It is a cohort retrospective study of forty-four cases of Preauricular sinus in the Department of Otorhinolaryngology and Head-Neck Surgery, Comilla Medical College, Bangladesh, from 01-07-2016 to 31-06-2019. All forty-four patients were clinically diagnosed with Preauricular sinus and confirmed by history, examination, and investigations. Special investigations included Audiological analysis and Ultrasonography of the renal system.
 Results: Theincidence of Preauricular sinus out of 1,16,128 patients in the outpatient department was 44 (0.05%), and out of inpatient routine operative 2738 patients were 1.61%. Fortypatients (90.90%) were treated by traditional sinusectomy, and the rest of the four patients (9.10%) were treated by extended supra-auricular sinusectomy procedures. Relapse was taken place in two patients (4.54%). Gender issuance shows that female was 24(54.54%) and males was 20(45.46%). The age distribution exhibited in the case of children was 34(77.27%), and adult, was 10(22.73%). Anatomical site allocation reveal that right side was 22(50%), left side was 20(45.45%), bilateral was 2(4.55%) whereas unilateral was 42(95.45%). Presenting features display non-infected putty like discharge was 21(47.72%), infected abscess was 19(43.18%) and asymptomatic was 4(9.1%). A syndrome related tothe Preauricular sinus was not found in our study.
 Conclusion: Children were more affected by the Preauricular sinus as a congenital disease. Incidence and recurrence are always countable fromthe perspective of treatment. As surgery is the treatment principle, it should be perfect without recurrence. We appreciate the supra-auricular approach for the excision of the Preauricular sinus, which best complements the patient’s wishes.
 J Com Med Col Teachers Asso Jan 2023; 27(1): 09-13

Epidemiology of birth defects based on a birth defects surveillance system in southwestern China and the associated risk factors.

Birth defects (BDs) are associated with many potential risk factors, and its causes are complex. This study aimed to explore the epidemiological characteristics of BDs in Guangxi of China and the associated risk factors of BDs. BDs data of perinatal infants (PIs) were obtained from the Guangxi birth defects monitoring network between 2016 and 2020. Univariate Poisson regression was used to calculate the prevalence-rate ratios (PRR) to explore the changing trends of BDs prevalence by year and the correlation between the regarding of characteristics of BDs (including infant gender, maternal age, and quarter) and BDs. Clinical characteristics of PIs with BDs and general characteristics of their mothers were documented, and Spearman correlation analysis was used to explore the potential associated risk factors of BDs. Between 2016 and 2020, 44,146 PIs with BDs were monitored, with an overall BDs prevalence of 121.71 (95% CI: 120.58-122.84) per 10,000 PIs, showing a significant increase trend (PRR = 1.116, 95% CI: 1.108-1.123), especially the prevalence of congenital heart defects (CHDs) that most significantly increased (PRR = 1.300, 95% CI: 1.283-1.318). The 10 most common BDs were CHDs, polydactyly, congenital talipes equinovarus, other malformation of external ear, syndactyly, hypospadias, cleft lip with cleft palate, cleft lip, hemoglobin Bart's hydrops fetalis syndrome (BHFS), and congenital atresia of the rectum and anus. BDs were positively correlated with pregnant women's age (R = 0.732, P < 0.01) and education level (R = 0.586, P < 0.05) and having pre-gestational diabetes mellitus (PGDM)/gestational diabetes mellitus (GDM) (R = 0.711, P < 0.01), while when the pregnant women had a family history of a dead fetus (R = -0.536, P < 0.05) and a birth of a fetus with BDs (R = -0.528, P < 0.05) were negatively correlated with BDs. A significant increase in the prevalence of BDs was detected between 2016 and 2020 in Guangxi, especially the prevalence of CHDs that most significantly increased. Older maternal age, higher maternal education level, and having PGDM before pregnancy or GDM in early pregnancy were the risk factors for BDs.

Reconstruction of the Deformed Tragus Accompanied by Accessory Auricle.

Accessory auricles are common congenital external ear malformations. However, it remains challenging to treat a complicated accessory auricle and reconstruct the involved tragus. In this study the aim was to present a new classification of accessory auricles and the surgical management of each type. We retrospectively reviewed the records of 110 patients who underwent accessory auricle surgery. The accessory auricle was classified by 3 types, according to its morphology and relationship with the tragus: Types I, II, and III. The type III accessory auricle was divided into 3 subtypes: IIIa, IIIb, and IIIc. The surgical techniques utilized varied among the different types. The total number of accessory auricles in 110 patients was 149. Type I was the most common type (52.3%), followed by types II (31.5%) and III (16.1%). Among the type III subtypes, type IIIa was observed in 12 (8.1%), type IIIb in 3 (2%), and type IIIc in 9 (6%) ears. None of the patients experienced short-term complications. Three patients (4 ears) showed mild hypertrophic scarring. Three patients (3 ears) showed a smaller tragus than the normal side. The average score for aesthetic outcomes was 3.7 points on a 4-point Likert scale. Classification of accessory auricles provides guidance for surgery. Different surgical techniques were employed based on the type of accessory auricle. The final incision at the edge of the reconstructed tragus provided an aesthetically pleasing outcome.

Assessment of the distribution and volume of air chambers around the inner auditory canal on high-resolution computed tomography scans of the temporal bone.

Assessment of the distribution and volume of air chambers around the inner auditory canal on high-resolution computed tomography scans of the temporal bone.

The role for cochlear implants in microtia and congenital aural atresia: A case report and a review of literature

Sensorineural hearing loss resulting from microtia and aural atresia is rare due to different embryologic origins of the external and inner ear. Consequently, cochlear implants are seldom performed in patients with microtia and/or aural atresia. Herein we discuss an 8 year-old boy with congenital aural atresia and microtia who underwent cochlear implant surgery for profound hearing loss with good results. A literature review was performed and discussed. Pre-operative planning with high resolution computed tomography and facial nerve monitoring are crucial in identification and preservation of the facial nerve due to the high rate of aberrant anatomy. Careful incision placement is required particularly if pinna reconstruction is considered. Literature review highlighted various surgical approaches as well as different modalities used for intra-operative facial nerve monitoring. Only one patient had intra-operative complications. Cochlear implant is a viable solution in patients with external ear malformations and severe-profound sensorineural hearing loss. Adequate planning and counselling are essential due to the challenges that may occur in microtia and aural atresia.

Facial Nerve Anomalies as an Obscure Co-occurrence With External Ear Malformations: A Case Report

This study reports an infant with a rare triad of congenital facial palsy, bilateral aural atresia, and middle ear malformations. We highlight the audiological test battery in detail that led to identifying this obscure co-occurrence in a 6-month-old infant. The challenges associated with identifying such rare conditions, especially in infants, can be overcome only by incorporating a meticulous and vigilant approach. The infant was subjected to a series of subjective and objective audiological evaluations, through which rare asymmetric facial grimaces were vigilantly observed. This observation warranted radiologic investigation, which confirmed the suspicion that the anomaly may not be restricted to auditory structures alone. As facial nerve anomalies were confirmed, diversified recommendations, including speech, language, and swallow evaluation, were made apart from the auditory management. Hence in cases of external ear anomalies, although rare, it is essential to rule out facial nerve abnormalities as they can be a concealed problem.

Selection and application in the approach of Bonebridge implantation for bilateral congenital malformation of external and middle ear: selection and application

Objective:According to whether auricle reconstruction has been performed before the implantation of Bonebridge, the different surgical plan of combination of ear reconstruction and hearing rehabilitation with Bonebridge were respectively applied for the individuals with congenital outer and middle ear malformation. The study aim to explore the feasibility of personalized comprehensive treatment of congenital outer and middle ear malformation. Methods:We developed individualized surgical plans of Bonebridge implantation and auricular reconstruction for 35 patients with bilateral external and middle ear malformation. Six patients underwent Bonebridge implantation on one side, and the post-auricular skin expander implantation on the other sidesimultaneously; seven patients underwent Bonebridge implantation at the same time as the second stage of auricular reconstruction; twenty-two patients had their Bonebridge implantations performed after the reconstruction of the auricles. Results:No intraoperative complications occured in 35 patients. No facial paralysis, vertigo, tinnitus and cerebrospinal fluid leakage was reported. One patient had skin infection after Bonebridge implantation. The Bonebridge was removed and 7 months later and the Bonebridge implantation was re-performed on the same side. No complication occurred after 16 months of follow-up. Conclusion:According to the individual condition of the patients, different surgical plans of Bonebridge implantation and auricular reconstruction can be selected personally, which is beneficial to obtain the ideal aesthetic and hearing outcome.

Associated health problems in children with hearing impairment: an institutional study

Background: Hearing impairment is one of the leading health concerns in the world and various health problems are often found associated in such children. This study was planned to find the nutritional status, health problems and associated disabilities in such children.Methods: A total of 234 children in the age group of 5–18 years with hearing loss, from an educational institution catering to such children in Central Kerala, were studied. Data analysis was done using statistical package for the social sciences (SPSS) software and results interpreted.Results: The present study had 234 children who satisfied the inclusion criteria. More than 75% of the children had underweight. 47% had short stature. Overweight and obesity were present in 9.8% and 2.1% of the children. Nutritional deficiencies like anemia (7.7%) and vitamin A and B complex deficiencies (10.7%) were also observed. The significant health problems found were congenital heart disease 5.3%, prolongation of QTc interval 12.4%, seizure disorder 6%, bronchial asthma 4%, refractive errors 7.3%, strabismus 2%, corneal opacities and blindness 0.8%, psoriasis 0.4%, external ear malformations 3.7% and khyphoscoliosis 1.3%. Behavioral problems (44%), visual impairment (11%), poor scholastic performance (17%), dysgraphia (3%), dyscalculia and motor skill impairment (2.1%) were the common associated disabilities.Conclusions: Significant health problems were observed in these hearing impaired children. The prominent ones being malnutrition, congenital heart diseases, prolongation of QTc interval, seizure disorder, bronchial asthma, refractive errors, external ear malformations, psoriasis, khyphoscoliosis, behavioral problems, poor scholastic performance, dysgraphia, dyscalculia and motor skill impairment.

Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature

Although the prognosis of CHARGE syndrome can be highly variable from mild until severe, final diagnosis is difficult to establish in utero. The aim of our study is to compare antenatal and postnatal findings in a retrospective cohort of 10 successive patients with a positive CHD7 gene variant in order to identify the specific prenatal features for CHARGE syndrome diagnosis. Fetal ultrasound, follow-up and supplementary investigations are collected and compared to postnatal findings. Congenital heart defect (7/10), choanal atresia (7/10) and tracheoesophageal atresia (4/10) are the most frequent fetal anomalies found. Inner and external ear anomalies appear as the keystone (constant features) for prenatal diagnosis of CHARGE syndrome in fetuses with multiple anomalies and normal microarray karyotype. External ear malformations are identified in all cases by 3D ultrasound when carefully evaluated. MRI and temporal bone CT-Scan are second line useful tools to assess the diagnosis when looking for semicircular canal agenesis, arhinencephaly and/or choanal atresia. Before availability of prenatal exome sequencing in clinical routine, present findings lead to the recommendation that fetuses, with congenital heart defect (mainly septal and conotruncal), cleft lip/palate or unexplained polyhydramnios should carefully be screened for clues suggesting CHARGE syndrome using 2D and 3D ultrasound, MRI and temporal bone CT-Scan. When CHARGE syndrome is suspected with normal molecular karyotype, CHD7 gene sequencing must be offered.

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome

PurposeTo investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition distinct from Kabuki syndrome type 1 (KS1). MethodsMultiple individuals, with MVs in exons 38 or 39 of KMT2D that encode a highly conserved region of 54 amino acids flanked by Val3527 and Lys3583, were identified and phenotyped. Functional tests were performed to study their pathogenicity and understand the disease mechanism. ResultsThe consistent clinical features of the affected individuals, from seven unrelated families, included choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability. The frequency of clinical features, objective software-based facial analysis metrics, and genome-wide peripheral blood DNA methylation patterns in these patients were significantly different from that of KS1. Circular dichroism spectroscopy indicated that these MVs perturb KMT2D secondary structure through an increased disordered to ɑ-helical transition. ConclusionKMT2D MVs located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from KS1. Unlike KMT2D haploinsufficiency in KS1, these MVs likely result in disease through a dominant negative mechanism.

Epidemiology of birth defects based on a birth defect surveillance system in Southern Jiangsu, China, 2014–2018

Introduction Changzhou has been confronted with great challenges in birth defects (BDs) prevention, as the prevalence rates of BDs in Changzhou increased rapidly. The aims of this study were to describe the epidemiology of BDs in perinatal infants (PIs, including dead fetus, stillbirth, or live birth between 28 weeks of gestation and 7 days after birth) in Changzhou during the period from 2014 to 2018. Methods The BD surveillance data of PIs were collected from 56 hospitals of Changzhou. The prevalence rate of BDs with 95% confidence interval (CI) were calculated by Poisson distribution. Univariate and multivariate Poisson regression was performed to identify the changing trends of prevalence rates of BDs by year and the association of regarding BD characteristics including year, infant gender, maternal age, and season with BDs successively. Results From 2014 to 2018, there were a total of 238,712 PIs of which 1707 had BDs, with the average prevalence of 71.509 per 10,000 PIs, showing a remarkable uptrend (aPRR = 1.133, 95%CI: 1.094–1.173). The ten leading BDs were polydactyly, congenital heart defects (CHD), syndactyly, microtia, cleft lip and palate (CLP), hypospadias, cleft palate, other malformation of external ear (OMEE), congenital atresia of rectum and anus, and congenital talipes equinovarus (CTE). During the study period, the prevalence rates of polydactyly, CHD and syndactyly increased significantly (PRR = 1.195, 95%CI: 1.109–1.288, PRR = 1.194, 95%CI: 1.105–1.291, and PRR = 1.143, 95%CI: 1.007–1.297, respectively); the prevalence rates of congenital esophageal atresia decreased significantly (PRR = 0.571, 95%CI: 0.395–0.826). The risk of BDs was higher in male PIs versus female PIs (aPRR = 1.235, 95%CI: 1.123–1.358). Conclusions A significant increase in the prevalence of BDs was detected from 2014 to 2018 in Changzhou. CHD, polydactyly, and syndactyly increased much and congenital esophageal atresia declined much. Male PIs was risk factor for occurrence of BDs. Collecting information on factors associated with BDs, setting the report time of BDs system at smaller gestational age so as to get an exact prevalence and make better prevention strategy, strengthening the publicity and education, improving the ability of monitoring, and wider use of new diagnosis technology are important to reduce the prevalence of BDs in PIs.