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BACKGROUND: Amniocentesis for genetic diagnosis is most commonly done between 15 and 22 weeks of gestation but can be performed at later gestational ages. The safety and genetic diagnostic accuracy of amniocentesis have been well-established through numerous large-scale multicenter studies for procedures before 24 weeks, but comprehensive data on late amniocentesis remain sparse. OBJECTIVE: To evaluate the indications, diagnostic yield, safety, and maternal and fetal outcomes associated with amniocentesis performed at or beyond 24 weeks of gestation. STUDY DESIGN: We conducted an international multicenter retrospective cohort study examining pregnant individuals who underwent amniocentesis for prenatal diagnostic testing at gestational ages between 24w0d and 36w6d. The study, spanning from 2011 to 2022, involved 9 referral centers. We included singleton or twin pregnancies with documented outcomes, excluding cases where other invasive procedures were performed during pregnancy or if amniocentesis was conducted for obstetric indications. We analyzed indications for late amniocentesis, types of genetic tests performed, their results, and the diagnostic yield, along with pregnancy outcomes and postprocedure complications. RESULTS: Of the 752 pregnant individuals included in our study, late amniocentesis was primarily performed for the prenatal diagnosis of structural anomalies (91.6%), followed by suspected fetal infection (2.3%) and high-risk findings from cell-free DNA screening (1.9%). The median gestational age at the time of the procedure was 28w5d, and 98.3% of pregnant individuals received results of genetic testing before birth or pregnancy termination. The diagnostic yield was 22.9%, and a diagnosis was made 2.4 times more often for fetuses with anomalies in multiple organ systems (36.4%) compared to those with anomalies in a single organ system (15.3%). Additionally, the diagnostic yield varied depending on the specific organ system involved, with the highest yield for musculoskeletal anomalies (36.7%) and hydrops fetalis (36.4%) when a single organ system or entity was affected. The most prevalent genetic diagnoses were aneuploidies (46.8%), followed by copy number variants (26.3%) and monogenic disorders (22.2%). The median gestational age at delivery was 38w3d, with an average of 59 days between the procedure and delivery date. The overall complication rate within 2 weeks postprocedure was 1.2%. We found no significant difference in the rate of preterm delivery between pregnant individuals undergoing amniocentesis between 24 and 28 weeks and those between 28 and 32 weeks, reinforcing the procedure's safety across these gestational periods. CONCLUSION: Late amniocentesis, at or after 24 weeks of gestation, especially for pregnancies complicated by multiple congenital anomalies, has a high diagnostic yield and a low complication rate, underscoring its clinical utility. It provides pregnant individuals and their providers with a comprehensive diagnostic evaluation and results before delivery, enabling informed counseling and optimized perinatal and neonatal care planning.
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OBJECTIVES: Global access to assisted reproductive technologies (ART) remains highly inequitable. Until recently, access to ART in Ireland was solely available through private fertility clinics. Publicly funded ART was introduced in September 2023 but eligibility requires patients to meet strict access criteria that include referral by their primary care general practitioner (GP) to the local fertility service. Previous studies report that fertility training amongst doctors, including GPs, is variable and an obstetrics and gynaecology (O&G) rotation is not mandatory for GP trainees in Ireland. This study aimed to investigate GPs' knowledge of fertility investigations and management, as well as attitudes towards publicly funded ART access criteria. STUDY DESIGN: A cross-sectional online survey was distributed to GPs working in Ireland between September 2023 and January 2024. The survey questionnaire explored attitudes to, and knowledge of, ART including the publicly funded access criteria. Responses to free-text questions were qualitatively analysed using content analysis. RESULTS: The study had 154 respondents, representing approximately 4 % of GPs in Ireland. Three quarters (n = 120, 78 %) of respondents were female, 68 % (n = 105) had completed an O&G training rotation and 72 % (n = 111) had further O&G qualifications. However, 69 % (n = 107) reported that they had no training in subfertility investigation and management, and 34 % (n = 53) were not aware of the access criteria for publicly funded ART prior to completing the survey. Almost all GPs (97 %, n = 149) felt that they would benefit from more education on fertility. Qualitative content analysis generated two themes regarding publicly funded ART: (i) the access criteria are too restrictive and (ii) the workload for GPs will increase. CONCLUSIONS: GPs in Ireland are now being tasked with managing infertility and fertility treatment referrals, but most have not been provided with sufficient training. Our study shows that GPs in Ireland desire broader access criteria for publicly funded ART and better fertility training and education for their own clinical practice.