Search Results (371)

Adolescence is a developmental stage characterised by identity formation, increasing independence, and a strong need for belonging. For adolescents in foster care, these developmental tasks are often complicated by unresolved trauma arising from abuse, neglect, abandonment, or the loss of primary caregivers. Frequent placement disruptions and difficulty establishing secure attachments with foster parents may further exacerbate emotional distress and risk behaviours. Despite these challenges, little research has examined foster parents’ experiences of caring for adolescents exhibiting risk behaviours. This qualitative study explores foster parents’ perspectives on the challenges they encounter, the coping strategies they employ, and the support systems they utilise while caring for adolescents exhibiting risk behaviours. Face-to-face semi-structured in-depth interviews were conducted in English and Setswana with eight purposively selected foster parents receiving services at the Joe Morolong Local Municipality in the Northern Cape Province, South Africa. Conducting the interviews in the participants’ home languages enhanced rapport and generated richer, more nuanced data. Data collection continued until saturation was reached. The participants described managing a range of behavioural challenges, including truancy, absconding, aggression, defiance, dishonesty, stealing, association with negative peer groups, and refusal to attend to household responsibilities. These behaviours contributed to considerable emotional strain and caregiving stress. Foster parents also reported inadequate professional and psychosocial support, leading to feelings of isolation, being overwhelmed, and burnout. Although compassion and cultural values strengthened resilience, caregiving capacity was constrained by poverty, unemployment, and limited support services. The findings underscore the need for strengthened supervision of foster care placements and sustained professional support, including counselling and caregiver support groups, to enhance foster parents’ well-being, improve coping capacity, and promote stable foster care placements for adolescents. Full article

Background/Objectives: Helsmoortel–Van der Aa syndrome (HVDAS), or ADNP syndrome, is a neurodevelopmental disorder characterized by cognitive deficits, dysmorphic features, and multisystem involvement. While typically arising de novo, familial cases with variable penetrance remain exceptionally rare. No cases have been reported from Türkiye to date. This study aims to define the first Turkish case series and provide compelling evidence for familial inheritance with variable penetrance/expressivity. Methods: We clinically and molecularly evaluated six Turkish subjects from four unrelated families presenting varying degrees of clinical display such as developmental delay, intellectual disability, or autism spectrum disorder. Next-generation clinical exome sequencing was performed, followed by Sanger sequencing for variant validation and parental segregation analysis. Results: Four distinct heterozygous truncating/frameshift variants were identified (three of them were novel) across the cohort, all falling within the CpG hypomethylating epigenetic group. Notably, a familial cluster (three individuals) shared the c.2815_2816del p.(Ile939Serfs*4) variant. Within this family, striking intrafamilial variability and reduced penetrance were observed: the 2.5-year-old proband displayed a severe phenotype with epilepsy and brain abnormalities, his 17-year-old sister showed a remarkably mild phenotype, and their 47-year-old father was almost entirely asymptomatic. Additionally, prolonged umbilical cord retention complicated by infection was identified as a novel clinical finding in two unrelated probands. Conclusions: This study presents the first Turkish case series of ADNP syndrome, expanding its global mutation spectrum with novel variants. Our findings provide robust evidence for familial transmission with reduced penetrance, emphasizing the necessity of family-based genetic counseling and parental testing, even when evaluating apparently asymptomatic individuals. Full article

Background/Objectives: Prenatal testing strategies for suspected monogenic disorders have changed considerably over the past decades, alongside evolving referral indications and increasing availability of genomic technologies. Longitudinal, practice-based data describing these changes within routine clinical care remain limited, particularly in Central and Eastern Europe. We describe changes in referral indications, testing strategies, and molecular findings over 22 years in a single-center retrospective descriptive case series from Western Romania. Methods: We conducted a retrospective analysis of 52 pregnancies investigated for suspected monogenic disorders between 2004 and 2026. Forty pregnancies were evaluated through a diagnostic pathway, while a separate group of 12 pregnancies underwent cell-free DNA (cfDNA)-based monogenic screening; these were analyzed as distinct clinical pathways. For the diagnostic pathway, clinical indications, testing strategies, and molecular findings were analyzed across three retrospectively defined study periods (2004–2013, 2014–2019, and 2020–2026). Results: Within the diagnostic pathway, referral patterns shifted from predominantly family-history-based testing (55.6% of cases in 2004–2013) toward indications arising from positive parental carrier screening and fetal ultrasound abnormalities in later study periods. Testing strategies expanded from predominantly targeted single-gene testing and multiplex ligation-dependent probe amplification (MLPA) to include gene panels and whole-exome sequencing (WES). Among 34 pregnancies with fetal molecular evaluation, 7 (20.6%) had a confirmed disease-causing finding, 9 (26.5%) had carrier-only outcomes, 15 (44.1%) were classified as unaffected, and 3 (8.8%) had non-classic molecular findings. Incidental or additional molecular findings beyond the primary testing indication were identified in 6 of 34 pregnancies with fetal molecular evaluation (17.6%) and required case-specific interpretation and genetic counseling. The 12 cfDNA-based monogenic screening pregnancies constituted a separate, non-diagnostic screening pathway and were analyzed independently from the diagnostic pathway. Conclusions: Over 22 years, referral indications for suspected monogenic disorders broadened alongside an expansion of prenatal testing strategies from predominantly targeted familial testing to a wider range of genomic approaches. These findings describe temporal changes within a single-center clinical practice and should not be interpreted as evidence that changes in testing strategy improved diagnostic performance or pregnancy outcomes. Invasive diagnostic testing and cfDNA-based monogenic screening represent distinct clinical pathways and should be interpreted separately. Full article

Background: Breastfeeding myths held by healthcare professionals may affect the accuracy and consistency of counseling provided to women and families. This study evaluated nursing and midwifery students’ breastfeeding myths and associated factors. Methods: This descriptive, cross-sectional study included 218 nursing and midwifery students at a university in Türkiye. Data were collected using a Personal Information Form and the Breastfeeding Myths Scale (BMS). Descriptive statistics, nonparametric tests, Spearman correlation, and a multivariable generalized linear model with robust covariance estimates were used. Results: The mean age was 21.24 ± 1.80 years, and 196 participants (89.9%) were female. The mean BMS score was 67.43 ± 16.39; 214 students (98.2%) had low myth levels and 4 (1.8%) had high levels. In unadjusted analyses, scores differed by gender, department, academic year, family breastfeeding experience, perceived knowledge, and age. In the adjusted model, female students had lower scores than male students (B = −9.481, 95% CI: −18.261 to −0.700, p = 0.034), nursing students had lower scores than midwifery students (B = −4.557, 95% CI: −8.321 to −0.793, p = 0.018), and each one-year increase in age was associated with a 1.52-point decrease in BMS scores (B = −1.524, 95% CI: −2.884 to −0.163, p = 0.028). Academic year, parental education, family income, family breastfeeding experience, and perceived knowledge were not independently associated with BMS scores. Conclusions: Most students had low levels of breastfeeding myths. Female gender, nursing enrollment, and older age were associated with lower BMS scores; however, the gender finding should be interpreted cautiously because all male participants were nursing students. Full article

Background: Congenital abdominal wall defects (CAWDs), primarily gastroschisis and omphalocele, result from disturbances in early embryonic folding and midgut development and are routinely detected during prenatal ultrasound screening. Despite advances in prenatal imaging, considerable heterogeneity in clinical presentation, severity, and outcomes necessitates structured risk stratification to optimize prenatal and perinatal management. Objectives: We aimed to present a series of prenatally diagnosed congenital abdominal wall defects and integrate current evidence into a clinically applicable, risk-adapted framework for prenatal assessment and perinatal management. Materials and Methods: Three pathological cases of CAWDs diagnosed between 2025 and 2026 were retrospectively analyzed. Two additional first-trimester ultrasound examinations demonstrating physiological midgut herniation were included as illustrative examples of an important differential diagnosis during early pregnancy. Prenatal assessment included systematic evaluation of bowel dilatation, bowel wall thickness, liver herniation, and associated structural anomalies. Established risk stratification systems—including the distinction between simple and complex gastroschisis and the classification of omphalocele according to defect size and associated anomalies—were applied. A narrative review of the literature was performed to contextualize the clinical findings and support the development of a practical ultrasound-based diagnostic and management algorithm. Results: The pathological cases illustrated the broad clinical spectrum of CAWDs, ranging from isolated omphalocele to lethal body stalk anomaly, while the illustrative examples emphasized the importance of distinguishing physiological midgut herniation from pathological abdominal wall defects during the first trimester. Prenatal risk stratification based on ultrasound findings may inform surveillance strategies, delivery planning, and parental counseling. In particular, associated anomalies and liver herniation in omphalocele, as well as progressive bowel abnormalities in gastroschisis, were identified as key determinants of prognosis and clinical management. Based on the literature review and the illustrative institutional cases, an educational ultrasound-based diagnostic and management framework was proposed to summarize the current evidence and support a structured diagnostic approach. Conclusions: Congenital abdominal wall defects should be considered a spectrum of disorders with varying embryological origins, clinical manifestations, and prognostic implications. A standardized prenatal assessment combined with risk-adapted management can improve prognostic accuracy, optimize perinatal planning, and support informed parental counseling. Implementation of structured diagnostic frameworks may enhance clinical decision making and improve outcomes in affected pregnancies. Full article

Background/Objectives: Compound heterozygosity, multilocus molecular diagnoses, mosaicism, uniparental disomy (UPD), and mitochondrial DNA (mtDNA) heteroplasmy are established configuration-dependent diagnostic categories whose interpretation requires consideration of allelic phase, dosage, parental origin, and tissue distribution. This study evaluated their diagnostic contribution and clinical characteristics in pediatric neurodevelopmental disorders (NDDs). Methods: This single-center retrospective cohort study conducted a descriptive cross-phenotypic evaluation of 2162 children in China who underwent clinical genetic testing between 2015 and 2024. The primary analysis focused on confirmed diagnostic configurations, whereas study-defined possibly diagnostic configurations were included only in expanded-set sensitivity and supplementary descriptive analyses. Binary clinical outcomes were adjusted for sex, calendar year of testing, and primary testing strategy. Ascertainment depended on the genetic tests performed for each child rather than systematic screening for all five categories. Results: Confirmed diagnostic configurations were identified in 166/1009 (16.5%) children with definitive molecular diagnoses, corresponding to 166/2162 (7.7%) of the full cohort. These comprised 103 compound heterozygous configurations, 24 multilocus molecular diagnoses, 19 mosaic findings, 4 UPD-related configurations, and 16 mtDNA heteroplasmy configurations. An additional 34 children had possibly diagnostic configurations, yielding an expanded configuration set of 200/2162 (9.3%), which was not interpreted as a definitive diagnostic yield. In the confirmed-only analysis, age at onset was lower than in the comparison group (median 1.80 vs. 2.80 years, Bonferroni-adjusted p = 0.008), and epilepsy was less frequent [94/166 (56.6%) vs. 1338/1962 (68.2%), Bonferroni-adjusted p = 0.035]. Conclusions: Confirmed diagnostic configurations involving these five categories accounted for 16.5% of definitive molecular diagnoses and were characterized by a lower frequency of epilepsy at the cohort level. Configuration-level assessment of allelic phase, dosage, multilocus contribution, parental origin, mosaic fraction, and tissue context may improve diagnostic completeness and recurrence-risk counseling. Full article

Background: Pakistan is one of only two countries where wild poliovirus type 1 (WPV1) continues to persist. Vaccine refusals challenge efforts to end the virus, especially in high-risk communities. Methods: A qualitative exploratory study took place from September to November 2025 in three High-Risk Union Councils (HRUCs) of Karachi, Pakistan. The study examined reasons for refusing the polio vaccine and identified specific communication and operational strategies to improve vaccine acceptance. A total of 23 in-depth interviews and 10 focus group discussions were conducted with 71 participants, including parents who refuse the vaccine, polio program staff, physicians, and government stakeholders. Data were analyzed using a sequential inductive and deductive thematic approach, mapping findings onto the Socio-Ecological Model (SEM) with NVivo 15 (Lumivero, Denver, CO, USA). Results: Factors influencing polio vaccine refusals were interconnected and spanned multiple levels. At the intrapersonal level, campaign fatigue, a lack of knowledge about poliomyelitis, concerns about side effects, and rumors about infertility were common. Community-level factors included household gatekeepers, local influencers, and digital misinformation. Institutional barriers included weak communication from the frontline, inadequate supervision, workforce shortages, poor tracking of refusals, and limited involvement of physicians. At the policy level, refusals were linked to distrust in governance, poor municipal services, and dissatisfaction with vertical campaign methods. Recommended strategies included integrating polio services with routine immunization and primary healthcare, strengthening counseling by physicians, engaging trusted local influencers and community leaders, expanding targeted social media campaigns to counter misinformation, implementing quick responses to rumors, enhancing workforce capacity, and using data-driven microplanning, including targeted SNIDs and focused interventions in areas with chronic refusals. Conclusions: Polio vaccine refusals are shaped by social, communication, operational, and structural factors. Improving communication and operational guidelines by reducing the number of campaigns, increasing active engagement at the frontline, integrating polio activities into routine health services, and addressing misinformation with a dynamic communication strategy may enhance vaccine acceptance and support polio eradication efforts. Full article

Background/Objectives: Recurrent pregnancy loss (RPL) has traditionally been investigated predominantly through maternal factors, while the clinical role of paternal assessment remains inconsistently defined. Current guidelines differ substantially regarding semen analysis, sperm DNA fragmentation (SDF), genetic testing, and referral for andrological evaluation. This review aimed to compare contemporary guideline recommendations, critically appraise the directness, prognostic value, and clinical utility of the supporting evidence, and classify paternal assessment strategies as routine, selective, or investigational. Methods: A structured narrative review was conducted using PubMed and Scopus searches through June 2026. International RPL, obstetric, reproductive medicine, and andrology guidelines were compared. Evidence from systematic reviews, meta-analyses, clinical studies, and clinically relevant molecular investigations was evaluated according to its directness to RPL populations, diagnostic and prognostic value, and evidence that test-guided interventions improve miscarriage or live-birth outcomes. Results: Routine paternal assessment should include age, reproductive and medical history, body weight, lifestyle, medication exposure, and relevant environmental or occupational risks. Conventional semen analysis is appropriate primarily when RPL coexists with infertility or suspected male reproductive disease. SDF is the most extensively studied advanced paternal biomarker and is frequently elevated in RPL cohorts, but findings vary by assay and comparator population, while prospective prediction of subsequent live birth and benefit from SDF-directed treatment remain unproven. Parental karyotyping has established counselling value but should be risk-stratified. Sperm aneuploidy testing, oxidative stress assays, seminal microbiome profiling, epigenetic biomarkers, and biomarker-directed interventions remain investigational. Conclusions: Paternal assessment in RPL should be couple-based, clinically targeted, and evidence-informed. Current evidence supports routine clinical evaluation, selective use of semen analysis, SDF testing, genetic assessment, and reproductive urology referral, and restriction of unvalidated biomarkers and treatments to research settings. Full article

Legal definitions of human viability vary worldwide. Background/Objectives: The treatment of periviable newborns remains controversial and raises ethical concerns. However, currently, the World Health Organization (WHO) sets the lower limit of viability at 22 weeks of gestation or 500 g birth weight. The aim of our research was to determine the knowledge of healthcare practitioners in our country regarding this topic, as well as including a course after which we sought to evaluate whether their perceptions regarding the management of these cases changed. Methods: The recruitment of participants encompassed those who voluntarily took part in the survey, and 30 clinicians were included; they participated in a 30 h online course and completed a survey questionnaire before and after the course. Results: After Holm adjustment, we observed an improvement in participants’ perceptions regarding recommendations concerning a multidisciplinary approach, perinatal counseling (20.0% vs. 100.0%), ethical issues (16.7% vs. 93.3%), and awareness of national guidelines (36.7% vs. 100.0%). Moreover, they recognized the importance of including parental wishes in decision-making (Holm-adjusted p = 0.0469), but with clinicians having the final word in the decision. Other factors did not change, with practitioners having knowledge about the serious outcomes of newborns in such challenging situations. Conclusions: Ethically grounded strategies to guide the management of newborns at the limit of viability is of great importance, whereby gestational age is an insufficient parameter. A collaborative, multidisciplinary process is mandatory in order to ensure the best outcomes for the newborn. The value of continuing medical education should be acknowledged. Full article

Background/Objectives: Termination of pregnancy (TOP) following a prenatal diagnosis of congenital heart disease (CHD) is a complex decision shaped by clinical, ethical, and psychosocial factors. This study evaluated the clinical factors associated with parental acceptance of TOP after prenatal diagnosis of CHD in a multidisciplinary counselling setting. Methods: This retrospective cohort study was conducted at a tertiary referral center where fetal CHD cases are evaluated in a multidisciplinary perinatology council. Pregnancies with a prenatal CHD diagnosis for which TOP was medically recommended between December 2023 and February 2026 were included. Maternal, fetal, and genetic data were analyzed. Cardiac severity was classified using the fetal cardiovascular disease severity scale. Because the cohort included only 62 pregnancies, a simplified multivariable logistic regression model with three clinically prespecified variables (four parameters: gestational age, cardiac severity, and genetic-evaluation status) was used to identify variables associated with termination acceptance. Results: Sixty-two pregnancies were included; 41 (66.1%) accepted termination and 21 (33.9%) continued the pregnancy. Maternal characteristics and gestational age at diagnosis were similar between groups. In the multivariable model, genetic-evaluation status was the only variable independently associated with termination acceptance. Compared with cases without genetic testing, both major chromosomal/pathogenic anomalies (aOR 4.97; 95% CI 1.29–19.11; p = 0.020) and a normal genetic-evaluation status (aOR 4.71; 95% CI 1.07–20.77; p = 0.041) were associated with higher termination acceptance. Cardiac severity and gestational age were not independently associated with parental decision. Conclusions: Genetic-evaluation status was associated with parental acceptance of termination after prenatal CHD diagnosis in a multidisciplinary counselling setting; given the small sample size and the selected, council-recommended cohort studied, this association should be interpreted as hypothesis-generating rather than as evidence of a causal or independent predictive effect. Full article

Thoracopagus conjoined twins are the most common type of conjoined twinning and are frequently associated with shared cardiac anatomy, the principal determinant of prognosis and postnatal survival. Early prenatal diagnosis is essential for accurate counseling and timely pregnancy management. We report the diagnosis of thoracopagus conjoined twins with a shared cardiac structure in a 35-year-old primigravid woman at 8 weeks and 3 days of gestation. High-resolution transvaginal ultrasound demonstrated persistent thoracic fusion, fixed relative fetal position, a single yolk sac, a single umbilical cord, and absence of an intertwin membrane. Color Doppler confirmed a single sonographically detectable cardiac complex, while three-dimensional ultrasound enhanced spatial visualization and facilitated parental counseling. Differential diagnoses, including monochorionic twins with close apposition, TRAP sequence, body stalk anomaly, and other forms of conjoined twinning, were systematically excluded. Early first-trimester recognition of thoracopagus conjoined twins with shared cardiac anatomy is feasible using dynamic ultrasound and Doppler imaging. Establishing the diagnosis before the end of the first trimester enables accurate prognostic assessment, timely multidisciplinary counseling, and informed parental decision-making for this condition associated with an extremely poor prognosis. Full article

Background: Respiratory syncytial virus (RSV) is a leading cause of lower respiratory tract infection and hospitalization in infants. Nirsevimab, a long-acting monoclonal antibody, provides single-dose protection during the RSV season, but the effectiveness of prophylaxis programs depends on sustained parental acceptance and high uptake. This study evaluated changes in parental knowledge, perceptions, and willingness to accept nirsevimab across two consecutive RSV seasons in Emilia-Romagna, Italy. Methods: Two multicenter cross-sectional surveys were conducted during consecutive RSV seasons, 2024–2025 and 2025–2026, using a comparable questionnaire and recruitment approach. Parents or legal guardians of infants eligible for nirsevimab completed a semi-structured questionnaire during routine counseling in neonatal units. Survey 1 included 1042 respondents and survey 2 included 867 respondents. Sociodemographic characteristics, RSV awareness, knowledge and perception of nirsevimab, willingness to accept prophylaxis, trust in healthcare providers and the healthcare system, preferred information sources, and willingness to pay were compared between seasons. Results: Willingness to administer nirsevimab remained high and stable—87.04% in survey 1 and 88.00% in survey 2. Awareness of RSV-related risks increased from 68.23% to 73.47% (p < 0.05), and correct identification of nirsevimab as an antibody increased from 65.93% to 71.74% (p < 0.01). Explicit refusal rose slightly from 2.21% to 3.81% (p < 0.05). In survey 2, acceptance was associated with higher education, awareness of RSV risks, perceived child susceptibility, confidence in efficacy, lower concern about side effects, trust in pediatricians and the healthcare system, and willingness to pay. Notably, acceptance in 2025–2026 was higher among infants born in September–December than among those born in January–March, indicating a late-season decline. Conclusions: Parental acceptance of nirsevimab remained high across two seasons. Future campaigns should address residual knowledge gaps, reinforce communication on safety and efficacy, and sustain high coverage throughout the entire RSV season, particularly among infants born in its final months. Full article

Background: Healthcare workers play a critical role in parental vaccine decision-making and the uptake of non-routine childhood vaccines. This study aimed to evaluate healthcare workers’ knowledge, attitudes and behaviors regarding non-routine childhood vaccines, including rotavirus, meningococcal, human papillomavirus (HPV) and influenza vaccines. Methods: This cross-sectional study was conducted between October 2025 and March 2026 among healthcare workers in Türkiye. Data were collected using a structured questionnaire and the Attitudes Towards Vaccine Scale (ATVS), distributed through convenience and snowball sampling methods. Results: A total of 345 healthcare workers participated in the study. Recommendation behaviors differed significantly according to vaccine type (p < 0.001). Rotavirus and meningococcal vaccines were more frequently recommended than HPV and influenza vaccines. Although influenza vaccine had the highest awareness rate, it demonstrated the lowest recommendation rate and the lowest support for inclusion in the national immunization schedule. Physicians had significantly higher knowledge levels and vaccination attitude scores than non-physician healthcare workers (p < 0.001). ATVS scores were positively correlated with recommendation behaviors (ρ = 0.35, p < 0.001) and self-vaccination tendency (ρ = 0.34, p < 0.001). In multivariable analyses, higher vaccination attitude scores independently predicted greater self-vaccination tendency (OR = 1.07, 95% CI: 1.04–1.11, p < 0.001). Cost was the most commonly reported barrier to vaccine implementation. Conclusions: Positive attitudes toward non-routine childhood vaccines among healthcare workers do not necessarily translate into consistent recommendation behaviors across all vaccine types. Strategies targeting healthcare worker education, equitable vaccine access and standardized vaccine counseling practices may improve uptake and recommendation of optional childhood vaccines in Türkiye. Full article

Congenital cytomegalovirus (cCMV) is characterized by highly variable outcomes; how diagnostic information is communicated to families is critical, yet parent experiences of communication following a cCMV diagnosis are not well described. The objective was to examine parent experiences of communication following a cCMV diagnosis and identify opportunities to improve communication in the setting of clinical uncertainty. The method used was semi-structured interviews with 41 mothers of children with cCMV explored communication of diagnostic results, interactions with healthcare providers, and perceptions of information clarity, timing, and adequacy. Transcripts were analyzed using thematic analysis. Participants described variability in diagnostic communication, including differences in timing, modality, and content. Some received in-person counseling, whereas others learned of the diagnosis through phone calls, written communication, or electronic health portals prior to provider contact. Many reported limited explanation, insufficient anticipatory guidance, and inconsistent or incomplete information across providers. These communication gaps contributed to confusion, increased reliance on external information sources, and diminished trust in the healthcare system. Participants emphasized the importance of clear, compassionate communication that acknowledges uncertainty while providing actionable guidance. Communication surrounding cCMV diagnosis is inconsistent and often does not meet family needs. Diagnostic disclosure should function as a clinical intervention requiring clear, patient-centered, longitudinal communication to support families navigating uncertainty. Full article

Background/Objectives: 22q11.2 microduplication syndrome is a rare genetic disorder characterized by the presence of one or two additional copies of a segment within the 22q11.2 region of chromosome 22. While much of the literature has focused on the deletion variant leading to DiGeorge syndrome, the duplication counterpart has gained increasing attention due to its clinical variability and under-recognition. This review aims to deliver new possibilities to genetic counseling that can be provided in prenatal and postnatal cases as the phenotype of 22q11.2 microduplication carriers cannot be fully predicted. Methods: In the present study, a total of 12 (5 prenatal and 7 postnatal) cases were diagnosed through array-CGH and combined with 679 (95 prenatal and 584 postnatal) cases reported in the literature. This review summarizes the published evidence available up to April 2025. Data on clinical presentations, genetic findings, diagnostic methodologies, and outcomes were extracted and analyzed. Results: The combination of our cases and the reported cases with 22q11.2 microduplication syndrome revealed a broad phenotypic spectrum. Common clinical features include neurodevelopmental disorders, and cardiac anomalies. Importantly, the syndrome exhibits variable expressivity and reduced penetrance, with more than 70% of the findings to be inherited by one of the parents. Conclusions: 22q11.2 microduplication syndrome presents a heterogeneous clinical picture with variable expressivity and incomplete penetrance, posing challenges in diagnosis and genetic counseling, particularly when predicting prenatal outcomes. Awareness of its diverse manifestations is crucial for clinicians to consider this syndrome in the differential diagnosis and to provide informed counseling. Full article