OHVIRA syndrome: clinical implications of a delayed diagnosis.

Obstructed Hemi Vagina with Ipsilateral Renal Agenesis (OHVIRA) syndrome is a rarely encountered müllerian duct anomaly. Delayed diagnosis is common due to normal onset of puberty and menstruation. We report a case of a woman in her early 20s with a background history of multiple emergency department visits, ward admissions and surgeries for chronic abdominal pain. She was reviewed at 1 month postlaparotomy for recurrent pelvic abscess and was finally diagnosed to have an OHVIRA syndrome, 11 years after her first clinical presentation. Excision of the vaginal septum completely resolved her symptoms. We are reporting this case to highlight the clinical implications resulting from the delayed diagnosis, to look into factors contributing to the delay and to highlight the importance of having a high index of suspicion to diagnose this unique condition.

Provincial and territorial congenital anomalies surveillance: a summary of surveillance programs across Canada. / Surveillance provinciale et territoriale des anomalies congénitales : résumé des programmes de surveillance au Canada.

The Canadian Congenital Anomalies Surveillance Network was established in 2002 to address gaps in the national surveillance of congenital anomalies (CAs) and support the sustainability of high-quality, population-based, CA surveillance systems within provinces and territories. This paper highlights the methodologies of each local CA surveillance system, noting similarities and variabilities between each system, to contribute to enhanced national CA surveillance efforts.

The Canadian Congenital Anomalies Surveillance Network was established in 2002 under the umbrella of the Canadian Perinatal Surveillance System to support highquality, population-based congenital anomalies surveillance systems in Canada. Each local congenital anomalies surveillance system covers diverse populations and geography, operates under different structures and has varying program maturity. Engagement of every jurisdiction is essential for sustaining local and national CA surveillance. Provincial and territorial CA surveillance systems are uniquely positioned to support public health priorities.

Le Réseau canadien de surveillance des anomalies congénitales a été créé en 2002, dans le cadre du Système canadien de surveillance périnatale, afin de soutenir des systèmes de surveillance des anomalies congénitales de haute qualité et fondés sur la population à l'échelle du Canada. Les systèmes locaux de surveillance des anomalies congénitales couvrent des populations et des zones géographiques diverses, fonctionnent selon des structures différentes et ont une maturité variable. La participation de chaque administration est essentielle pour soutenir la surveillance locale et nationale des anomalies congénitales. Les systèmes provinciaux et territoriaux de surveillance des anomalies congénitales sont particulièrement bien placés pour soutenir les priorités en matière de santé publique.

The status and influencing factors of abnormal fetal pregnancy outcomes in 265 cases in China: a retrospective study.

Background: With the advancement of prenatal diagnosis technology, the detection rate of fetal abnormalities continues to increase, imposing a significant burden on both society and families. A retrospective analysis of essential information about pregnant women, such as their pregnancy history and delivery details, is crucial for understanding the primary factors that influence pregnancy outcomes in women with fetal abnormalities. This analysis is of great significance for improving the level of pregnancy management and outcomes in pregnant women with fetal abnormalities. Objective: To retrospectively analyze the pregnancy outcomes of women with fetal abnormalities and explore the factors that influence these outcomes. Methods: Pregnant women's pregnancy outcomes were collected from the medical information system and through telephone follow-ups. The chi-square test and logistic regression were used to analyze the factors influencing pregnancy outcomes. Results: Among 265 pregnant women diagnosed with fetal abnormalities, 190 chose to continue the pregnancy, while 75 chose to terminate it. Pregnant women with multiple fetal abnormalities (OR = 3.774, 95% CI [1.640-8.683]) were more likely to choose termination of pregnancy (TOP), and pregnant women who were advised to terminate their pregnancy or make a careful choice were more likely to terminate the pregnancy (OR = 41.113, 95% CI [11.028-153.267]). Conclusion: The number of organs involved in fetal abnormalities and treatment recommendations were identified as the primary factors influencing pregnancy outcomes. Improving awareness of maternal health care during pregnancy, early pregnancy screening technology, and a multidisciplinary diagnosis and treatment approach are of great significance in assisting pregnant women in making informed decisions and improving fetal prognosis.

Eliminating first trimester combined testing: Consequences for early detection of significant fetal anomalies.

OBJECTIVE: To determine whether implementation of cell-free DNA (cfDNA) testing for aneuploidy as a first-tier test and subsequent abolition of first trimester combined testing (FCT) affected the first trimester detection (<14 weeks) of certain fetal anomalies. METHODS: We performed a geographical cohort study in two Fetal Medicine Units between 2011 and 2020, including 705 fetuses with prenatally detected severe brain, abdominal wall and congenital heart defects. Cases were divided into two groups: before (n = 396) and after (n = 309) cfDNA introduction. The primary outcome was the first trimester detection rate (<14 weeks) overall and for non-chromosomal anomalies solely. RESULTS: Overall, gastroschisis, AVSD and HLHS were detected more often in the first trimester in the before group compared to the after group, respectively 54.5% versus 18.5% (p = 0.004), 45.9% versus 26.9% (p = 0.008) and 30% versus 3.4% (p = 0.005). After exclusion of chromosomal anomalies identifiable through cfDNA testing, the detection of AVSD remained higher in the before group (43.3% vs. 9.5%, p = 0.02), leading to a possible earlier gestation at termination. The termination of pregnancy (TOP) rate did not differ among the groups. In the after group, referrals for suspected anomalies following a dating scan between 11 and 14 weeks significantly increased from 17.4% to 29.1% (p < 0.001). CONCLUSION: This study underscores the value of a scan dedicated to fetal anatomy in the first trimester as we observed a decline in the early detection of certain fetal anomalies (detectable in the first trimester) subsequent to the abolition of FCT.

A rare variant of mullerian agenesis: a case report and review of the literature.

INTRODUCTION: Menstruation is a developmental milestone and usually marks healthy and normal pubertal changes in females. Menarche refers to the onset of first menstruation in a female. The causes of primary amenorrhea include outflow tract abnormalities, resistant endometrium, primary ovarian insufficiency, and disorders of the hypothalamus, pituitary, or other endocrine glands. A rare variant of mullerian agenesis, which warrants an individualized approach to management, is presented here. CASE REPORT: We present here the case of a 25-year-old Indian female with pain in the lower abdomen and primary amenorrhea. After a thorough history, clinical examination, imaging, and diagnostic laparoscopy, two small uteri, a blind upper half vagina, bilateral polycystic ovaries, and a blind transverse connection between the two uteri-a horseshoe band cervix-were detected, which confirmed the diagnosis of mullerian agenesis. There was evidence of adenomyosis in the mullerian duct element. This is a rare form of Müllerian abnormality with an unusual presentation. CONCLUSION: Mullerian agenesis is the most common cause of primary amenorrhea with well-developed secondary sexual characteristics. There are various forms of mullerian agenesis. Most of the cases are managed by a multidisciplinary team. Rare variants warrant an individualized approach to management.

The Association of Prenatal Diagnoses with Mortality and Long-Term Morbidity in Children with Specific Isolated Congenital Anomalies: A European Register-Based Cohort Study.

OBJECTIVES: To compare 5-year survival rate and morbidity in children with spina bifida, transposition of great arteries (TGA), congenital diaphragmatic hernia (CDH) or gastroschisis diagnosed prenatally with those diagnosed postnatally. METHODS: Population-based registers' data were linked to hospital and mortality databases. RESULTS: Children whose anomaly was diagnosed prenatally (n = 1088) had a lower mean gestational age than those diagnosed postnatally (n = 1698) ranging from 8 days for CDH to 4 days for TGA. Children with CDH had the highest infant mortality rate with a significant difference (p < 0.001) between those prenatally (359/1,000 births) and postnatally (116/1,000) diagnosed. For all four anomalies, the median length of hospital stay was significantly greater in children with a prenatal diagnosis than those postnatally diagnosed. Children with prenatally diagnosed spina bifida (79% vs 60%; p = 0.002) were more likely to have surgery in the first week of life, with an indication that this also occurred in children with CDH (79% vs 69%; p = 0.06). CONCLUSIONS: Our findings do not show improved outcomes for prenatally diagnosed infants. For conditions where prenatal diagnoses were associated with greater mortality and morbidity, the findings might be attributed to increased detection of more severe anomalies. The increased mortality and morbidity in those diagnosed prenatally may be related to the lower mean gestational age (GA) at birth, leading to insufficient surfactant for respiratory effort. This is especially important for these four groups of children as they have to undergo anaesthesia and surgery shortly after birth. Appropriate prenatal counselling about the time and mode of delivery is needed.

[Current status and reflection on molecular diagnosis of birth defects].

Birth defects are a major problem threatening the health of children in China. Genetic factors play a major role in birth defect etiology. Molecular diagnosis is the key means for screening, diagnosing, and preventing birth defects caused by genetic factors. How to carry out large-scale and cost-effective molecular diagnosis in clinical practice is a major challenge in the prevention and treatment of birth defects in China. This article reviews the current status of birth defects in China, the application of molecular diagnostic technology in birth defect prevention and control, and the challenges in promoting its use, to provide references for clinical practice in birth defect molecular diagnosis.

Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.

OBJECTIVE: To investigate the diagnostic yield of trio whole-genome sequencing (WGS) in fetuses with various congenital malformations referred to a tertiary center for prenatal diagnosis. METHODS: In this prospective study, 50 pregnancies with different congenital malformations, negative for trisomies and causative copy-number variants, were analyzed further with fetal-parental trio WGS analysis. Parents were eligible for inclusion if they accepted further investigation following the detection of isolated or multiple malformations on prenatal ultrasound. Cases with isolated increased nuchal translucency, gamete donation or multiple pregnancy were excluded. WGS with the Illumina Inc. 30× polymerase-chain-reaction-free short-read sequencing included analysis of single-nucleotide variants, insertions and deletions, structural variants, short tandem repeats and copy-number identification of SMN1 and SMN2 genes. RESULTS: A molecular diagnosis was achieved in 13/50 (26%) cases. Causative sequence variants were identified in 12 genes: FGFR3 (n = 2), ACTA1 (n = 1), CDH2 (n = 1), COL1A2 (n = 1), DHCR7 (n = 1), EYA1 (n = 1), FBXO11 (n = 1), FRAS1 (n = 1), L1CAM (n = 1), OFD1 (n = 1), PDHA1 (n = 1) and SOX9 (n = 1). The phenotypes of the cases were divided into different groups, with the following diagnostic yields: skeletal malformation (4/9 (44%)), multisystem malformation (3/7 (43%)), central nervous system malformation (5/15 (33%)) and thoracic malformation (1/10 (10%)). Additionally, two cases carried variants that were considered potentially clinically relevant, even though they were assessed as variants of uncertain significance, according to the guidelines provided by the American College of Medical Genetics and Genomics. Overall, we identified a causative or potentially clinically relevant variant in 15/50 (30%) cases. CONCLUSIONS: We demonstrate a diagnostic yield of 26% with clinical WGS in prenatally detected congenital malformations. This study emphasizes the benefits that WGS can bring to the diagnosis of fetal structural anomalies. It is important to note that causative chromosomal aberrations were excluded from our cohort before WGS. As chromosomal aberrations are a well-known cause of prenatally detected congenital malformations, future studies using WGS as a primary diagnostic test, including assessment of chromosomal aberrations, may show that the detection rate exceeds the diagnostic yield of this study. WGS can add clinically relevant information, explaining the underlying cause of the fetal anomaly, which will provide information concerning the specific prognosis of the condition, as well as estimate the risk of recurrence. A genetic diagnosis can also provide more reproductive choice for future pregnancies. © 2024 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Repair of posterior laryngeal cleft: a 10-year experience in a tertiary referral hospital.

OBJECTIVE: This study aimed to present experience with surgical treatment of laryngeal cleft cases through both open and endoscopic approaches. METHOD: A retrospective evaluation of all patients diagnosed as having a laryngeal cleft in a tertiary hospital over 10 years was performed. Pre-operative data, conservative and surgical management of cases, and outcomes were collected, tabulated and analysed. RESULTS: This study included 43 patients aged from 2 to 44 months with a median of 9.19 months. Concerning management technique, 12 patients had conservative treatment and the remaining 31 underwent a surgical procedure (of them, 20 patients underwent endoscopic intervention and 11 had the open surgical technique). In the open group, we used either tibial periosteum (six cases) or harvested costal cartilage (five cases). CONCLUSION: Surgical management in the form of endoscopic Coblation-assisted or an open approach is indicated in severe cases or mild cases not responding to conservative management.

A retrospective review of the association between maternal body mass index and the risk of congenital anomalies.

The objective of the study was to examine the association of congenital anomalies with the specific classes of pre-pregnancy BMI. An IRB-approved retrospective cohort study was performed using the data from the Natality Public Use File from the National Center for Health Statistics (2019). We included all singleton live births and excluded pregnancies with suspected or confirmed chromosomal abnormalities and people with pre-existing diabetes mellitus and missing pertinent data. The primary outcome was the incidence of any major congenital anomalies in liveborn infants. The incidence of anomaly was analyzed across all BMI classes, using individuals with BMI between 18.5 and 24.9 kg/m2 as the comparison group. A test of trend was also performed to determine if the risk increased as the BMI class increased. A total of 3 047 382 maternal-neonatal dyads were included in the analysis. A non-significant higher incidence of any major anomaly was noted among people who had underweight and class III BMI. The risk of open neural tube defects, omphalocele, and cleft lip/palate increased and the risk of gastroschisis decreased with an increase in maternal BMI class (p < 0.05). The incidence of congenital anomalies increases as the pre-pregnancy BMI increases. Individuals should be encouraged to optimize their weight prior to conception and if feasible, they should obtain screening for fetal anatomy assessment by a Maternal-Fetal Medicine specialist.

Müllerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways.

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a multi-system neurodevelopmental condition caused by deficiency of CREBBP (16p13.3) or EP300 (22q13.2). Müllerian agenesis, or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is defined as congenital agenesis of the uterus, cervix, and upper vagina without a definite genetic cause. INDEX CASE AND CASE SERIES: We present a 14-year-old female with RSTS type 1 (CREBBP, c.4395-2A>C) and MRKH, the first documented in the literature. Following presentation to Gynecology for anticipatory guidance regarding future menstrual suppression and follow-up of previously diagnosed labial adhesions, exam under anesthesia revealed a single urogenital opening with cystoscopy demonstrating a normal urethra and bladder. Laboratory evaluation was consistent with peripubertal female gonadotropins and estradiol, 46,XX karyotype, and normal microarray, and a pelvic MRI confirmed Müllerian agenesis. Given this case, we assessed our cohort of females with RSTS and found that 4 of 12 individuals also had Müllerian anomalies. CONCLUSION: Gynecologic evaluation should be a part of medical care for females with RSTS, particularly in individuals with delayed menarche or abnormal menstrual history, on the basis of the observed association between RSTS and Müllerian anomalies in this case series. Although several candidate genes and copy number variants are associated with MRKH, no candidate genes in close proximity to the 16p13.3 region have been identified to explain both RSTS and MRKH in the index patient. Due to the regulatory nature of CREBBP during embryonic development, we theorize that CREBBP may play a role in the migration of Müllerian structures during embryogenesis.

Surveillance of multiple congenital anomalies; searching for new associations.

Many human teratogens are associated with a spectrum of congenital anomalies rather than a single defect, and therefore the identification of congenital anomalies occurring together more frequently than expected may improve the detection of teratogens. Thirty-two EUROCAT congenital anomaly registries covering 6,599,765 births provided 123,566 cases with one or more major congenital anomalies (excluding chromosomal and genetic syndromes) for the birth years 2008-2016. The EUROCAT multiple congenital anomaly algorithm identified 8804 cases with two or more major congenital anomalies in different organ systems, that were not recognized as part of a syndrome or sequence. For each pair of anomalies, the odds of a case having both anomalies relative to having only one anomaly was calculated and the p value was estimated using a two-sided Fisher's exact test. The Benjamini-Hochberg procedure adjusted p values to control the false discovery rate and pairs of anomalies with adjusted p values < 0.05 were identified. A total of 1386 combinations of two anomalies were analyzed. Out of the 31 statistically significant positive associations identified, 20 were found to be known associations or sequences already described in the literature and 11 were considered "potential new associations" by the EUROCAT Coding and Classification Committee. After a review of the literature and a detailed examination of the individual cases with the anomaly pairs, six pairs remained classified as new associations. In summary, systematically searching for congenital anomalies occurring together more frequently than expected using the EUROCAT database is worthwhile and has identified six new associations that merit further investigation.

Laparoscopic Davydov vs. laparoscopic Vecchietti neovaginoplasty in women with Mayer-Rokitansky-Küster-Hauser syndrome; a systematic review and meta-analysis.

OBJECTIVE: To summarize the available evidence on the laparoscopic Davydov and Vecchietti methods to create a neovagina and to compare these techniques with a focus on neovaginal length, sexual function, operative time, and complications. DESIGN: A systematic electronic search up to August 2022 using PubMed and Embase is performed. SETTING: Not applicable. PATIENTS: Women with Mayer-Rokistansky-Küster-Hauser syndrome. INTERVENTIONS: All published clinical studies concerning the laparoscopic Davydov and laparoscopic Vecchietti procedures as a surgical technique to create a neovagina in women with Mayer-Rokistansky-Küster-Hauser syndrome were obtained. The guidelines for the preferred reporting items for systematic reviews and meta-analysis were followed. The following data were extracted: operative time, hospital stay, major early complications (within 3 months postsurgery), dilation therapy, neovaginal length, vaginal discharge, vaginal stenosis, time to sexual activity, sexual satisfaction, penetrative sexual activity, dyspareunia, score on the Female Sexual Function Index (FSFI), and duration of follow-up. The Newcastle Ottawa Scale was used to assess the quality of articles. MAIN OUTCOME MEASURES: Neovaginal length, FSFI scores, operative time, and complications. RESULTS: A total of 1,163 articles were identified, of which 33 studies were included in this systematic review. Of these, 12 studies (380 patients) are related to the Davydov method, 19 studies (1,126 patients) to the Vecchietti method, and 2 articles concern both. There is clinical heterogeneity and variety in the quality of the studies. Eighteen studies were included in the meta-analyses. The mean neovaginal length 12 months after the Davydov method is 8.3 cm (95% confidence interval [CI] 8.1-8.6), vs. 8.7 cm (95% CI 7.2-10.3) after the Vecchietti method. The mean FSFI score after the Davydov method is 28.9 (95% CI 26.8-31.1), compared with 27.5 (95% CI 25.0-30.1) after the Vecchietti method. The operative time of the Davydov method is 126 minutes (95% CI 109-143), compared with 40 minutes (95% CI 35-45) of the Vecchietti method. CONCLUSIONS: The operations yield comparable neovaginal length, sexual function, and complication rates. The mean FSFI scores indicate no sexual dysfunction in either group. The operative time of the Davydov method is significantly longer. There is no superiority shown for one of the surgical techniques in functional terms.

[Contemporary diagnosis and management of congenital microtia and aural atresia : Part 1: Principles and diagnosis]. / Aktuelle Diagnostik und Therapie bei Ohrmuscheldysplasien und Gehörgangsfehlbildungen : Teil 1: Grundlagen und Diagnostik.

Congenital malformations of the pinna and aural atresia can result in major aesthetic and functional deficits. Knowledge about embryologic developments and established classification systems is an essential requirement when dealing with affected patients. Early detection of deficiencies and introduction of appropriate diagnostic measures is vital to initiate adequate therapies and prevent long-term disabilities. Treatment for malformations of the pinna-if requested-is mostly surgical, infrequently an epithesis is applied. As in other surgical fields, tissue engineering will likely play a crucial role in the future. Treatment of aural stenosis and atresia aims at improvement of hearing levels and prevention of secondary complications like cholesteatoma and chronic otorrhea. Auditory rehabilitation comprises a spectrum from conventional hearing aids to invasive hearing implants, the latter being favored in recent years.

Prenatal and Neonatal Ultrasound and Magnetic Resonance Imaging Diagnosis of Sprengel's Deformity with Unusual Associations.

INTRODUCTION: Sprengel's deformity is a rare congenital anomaly of the shoulder rim. It is the most common congenital anomaly of the shoulder, associated with cosmetic deformity and abnormal shoulder function. Nonsurgical management can be considered for mild cases. Surgical intervention is indicated in moderate to severe cases with the goal of improving cosmetic appearance and function. The best surgical results are obtained in children aged 3-8 years. Correct diagnosis is very important because Sprengel's deformity can be accompanied by additional abnormalities, even in mild cases, and lack of a diagnosis delays proper treatment of the child. The severity of the defect may progress, so it is important to correctly identify children with Sprengel's deformity, even those with a mild form of the defect. CASE PRESENTATION: We report a case of prenatal sonographic diagnosis of Sprengel's deformity with additional features, as yet undescribed and missed - although visible - on prenatal magnetic resonance imaging (MRI). Cesarean delivery was performed due to preterm rupture of membranes, and a postnatal MRI confirmed the unusual constellation of Sprengel's anomaly with lateral meningocele, vestigial posterior meningocele, and lipoma tethering of the cord to the dural sac at the cervical-thoracic junction. CONCLUSION: Diagnosis of Sprengel's deformity is possible with prenatal ultrasound. Asymmetry of the cervical spine, discontinuity of the vertebral arch and abnormal vertebral bodies, as well as the asymmetric position of the shoulder blades with the presence of an omovertebral bone are signs that can help diagnose the defect.

Laparoscopic intervention for solid pelvic tumours in Mayer-Rokitansky-Küster-Hauser syndrome: a case of bilateral uterine adenomyomas of the rudimentary uterus.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a condition caused by Müllerian anomalies, is characterised by congenital vaginal aplasia and a rudimentary uterus. Case reports concerning uterine fibroids associated with MRKH syndrome are limited, and differentiating between uterine fibroids and ovarian solid tumours prior to surgical intervention is often challenging. Here, we present the case of a patient with MRKH syndrome and asymptomatic bilateral pelvic solid tumours located close to both ovaries. Based on intraoperative and histopathological findings, the tumours were diagnosed as adenomyomas of the rudimentary uterus. This is the first reported case of a uterine adenomyoma associated with MRKH syndrome. Moreover, our report highlights the fact that diagnostic laparoscopy is a valuable method to evaluate pelvic tumours in MRKH syndrome.

International Experiences with Vaginal Lengthening Treatment Among Individuals with Müllerian Agenesis: A Mixed-Methods Study.

STUDY OBJECTIVE: To understand variations and experiences of vaginal lengthening internationally in individuals with congenital underdevelopment of the uterus, cervix, and upper vagina or Müllerian agenesis METHODS: In this study, we used a cross-sectional mixed-methods design incorporating quantitative and qualitative questionnaires. Adults with Müllerian agenesis completed questionnaires with quantitative and open-ended qualitative questions about their vaginal lengthening experiences. Data were analyzed using descriptive statistics and inductive thematic analysis. RESULTS: Of 616 respondents meeting inclusion criteria (representing 40 countries), 46% (n = 284) reported no vaginal lengthening intervention. Vaginal lengthening was commonly reported by participants from North America and Europe (59%) and less commonly by participants from Africa, Asia, and South America (16%). Of those who had undergone vaginal lengthening, 72% reported dilator use, 34% coital dilation, and 39% surgery. Four major themes were identified in response to the open-ended vaginal lengthening experience question: (1) difficult physical symptoms, (2) practical and psychosocial challenges, (3) intimate relationships and sexual satisfaction, and (4) impact of experiences with healthcare providers. CONCLUSION: This study highlights vaginal lengthening practices internationally and shared themes related to significant challenges and positive experiences. The findings show room for improvement in the counseling and care surrounding vaginal lengthening. Future research should investigate factors that influence decision-making about vaginal lengthening and work toward international consensus on best care practices in Müllerian agenesis.

Trends in prenatal diagnosis of congenital anomalies in Western Australia between 1980 and 2020: A population-based study.

BACKGROUND: Advances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies. OBJECTIVE: To examine changes in rates of prenatal diagnosis of congenital anomalies over time and by demographic characteristics. METHODS: We undertook a population-based retrospective cohort study of all children born in Western Australia between 1980 and 2020 and diagnosed with a congenital anomaly. Age at diagnosis (prenatal, neonatal, infancy, early childhood or childhood) prevalence (all-type and type-specific), and prevalence ratios (PR) were calculated. We fit joinpoint regression models to describe the average annual percentage change (APC) in prenatal diagnosis over time, and log-binomial regression models to estimate the association between prenatal diagnosis and demographic characteristics. RESULTS: Prenatal diagnosis prevalence between the first (1980-1989: 28.3 per 10,000 births) and last (2005-2014: 156.1 per 10,000 births) decades of the study increased 5.5-fold (95% confidence interval [CI] 5.0, 5.9). Substantial increases were observed for cardiovascular (PR 10.7, 95% CI 8.0, 14.6), urogenital (PR 10.5, 95% CI: 8.7, 12.6) and chromosomal anomalies (PR 7.0, 95% CI 5.9, 8.3). Prenatal diagnosis was positively associated with the birth year (adjusted risk ratio [RR] 1.04, 95% CI 1.03, 1.04), advanced maternal age (RR 1.14, 95% CI 1.11, 1.18), multiple anomalies (RR 2.86, 95% CI 2.77, 2.96) and major anomalies (RR 3.75, 95% CI 3.36, 4.19), and inversely associated with remoteness (RR 0.89, 95% CI: 0.83, 0.95) and Aboriginality (RR 0.90, 95% CI 0.83, 0.97). CONCLUSIONS: Increases in prenatal diagnosis of congenital anomalies were observed in Western Australia from 1980 to 2020, reflecting advances in screening. Prenatal diagnosis was less common in remote regions and in Aboriginal children, strengthening calls for increased provision of antenatal care services for these populations.