Abstract：
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.
METHODS: 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 nine 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 post-procedure 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 two weeks post-procedure was 1.2%. We found no significant difference in the rate of preterm delivery between pregnant individuals undergoing amniocentesis between 24-28 weeks and those between 28-32 weeks, reinforcing the procedure\'s safety across these gestational periods.
CONCLUSIONS: Late amniocentesis, at or after 24 weeks 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.
OBJECTIVE: To evaluate the indications, diagnostic yield, safety, and maternal and fetal outcomes associated with amniocentesis performed at or beyond 24 weeks of gestation.
METHODS: 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 nine 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 post-procedure 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 two weeks post-procedure was 1.2%. We found no significant difference in the rate of preterm delivery between pregnant individuals undergoing amniocentesis between 24-28 weeks and those between 28-32 weeks, reinforcing the procedure\'s safety across these gestational periods.
CONCLUSIONS: Late amniocentesis, at or after 24 weeks 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.
摘要：
背景：用于基因诊断的羊膜穿刺术通常在妊娠15至22周之间进行，但可以在以后的胎龄进行。羊膜穿刺术的安全性和遗传诊断准确性已通过许多大规模，24周前手术的多中心研究，但是晚期羊膜穿刺术的综合数据仍然很少。
目的：为了评估适应症，诊断产量，安全,以及与妊娠24周或以后进行羊膜穿刺术相关的母体和胎儿结局。
方法：我们进行了一项国际，多中心回顾性队列研究,对在孕龄24w0d至36w6d时接受羊膜穿刺术进行产前诊断检测的孕妇进行检查.这项研究,从2011年到2022年，涉及9个转诊中心。我们包括单胎或双胎妊娠，结果有记录，不包括在怀孕期间进行其他侵入性手术或为产科适应症进行羊膜穿刺术的病例。我们分析了晚期羊膜穿刺术的适应症，进行的基因测试类型，他们的结果,和诊断结果，以及妊娠结局和术后并发症。
结果：在我们研究的752名孕妇中，晚期羊膜穿刺术主要用于结构异常的产前诊断（91.6％），其次是疑似胎儿感染(2.3%)和无细胞DNA筛查的高危结果(1.9%).手术时的中位胎龄为28w5d，98.3%的孕妇在出生或终止妊娠前接受了基因检测结果。诊断率为22.9%，与单器官系统异常的胎儿（15.3％）相比，多器官系统异常的胎儿的诊断频率高2.4倍（36.4％）。此外,诊断结果取决于所涉及的特定器官系统，当单个器官系统或实体受到影响时，肌肉骨骼异常（36.7％）和胎儿水肿（36.4％）的产量最高。最普遍的基因诊断是非整倍体（46.8％），其次是拷贝数变异(26.3%)和单基因疾病(22.2%)。分娩时的中位胎龄为38w3d，从程序到交货日期之间平均为59天。术后2周内总并发症发生率为1.2%。我们发现在24-28周和28-32周之间进行羊膜穿刺术的孕妇之间早产率没有显着差异，在这些妊娠期加强手术的安全性。
结论：晚期羊膜穿刺术，在妊娠24周时或之后，尤其是妊娠合并多种先天性异常，诊断率高，并发症发生率低，强调其临床实用性。它在分娩前为孕妇及其提供者提供全面的诊断评估和结果，使知情的咨询和优化围产期和新生儿护理计划。
目的：为了评估适应症，诊断产量，安全,以及与妊娠24周或以后进行羊膜穿刺术相关的母体和胎儿结局。
方法：我们进行了一项国际，多中心回顾性队列研究,对在孕龄24w0d至36w6d时接受羊膜穿刺术进行产前诊断检测的孕妇进行检查.这项研究,从2011年到2022年，涉及9个转诊中心。我们包括单胎或双胎妊娠，结果有记录，不包括在怀孕期间进行其他侵入性手术或为产科适应症进行羊膜穿刺术的病例。我们分析了晚期羊膜穿刺术的适应症，进行的基因测试类型，他们的结果,和诊断结果，以及妊娠结局和术后并发症。
结果：在我们研究的752名孕妇中，晚期羊膜穿刺术主要用于结构异常的产前诊断（91.6％），其次是疑似胎儿感染(2.3%)和无细胞DNA筛查的高危结果(1.9%).手术时的中位胎龄为28w5d，98.3%的孕妇在出生或终止妊娠前接受了基因检测结果。诊断率为22.9%，与单器官系统异常的胎儿（15.3％）相比，多器官系统异常的胎儿的诊断频率高2.4倍（36.4％）。此外,诊断结果取决于所涉及的特定器官系统，当单个器官系统或实体受到影响时，肌肉骨骼异常（36.7％）和胎儿水肿（36.4％）的产量最高。最普遍的基因诊断是非整倍体（46.8％），其次是拷贝数变异(26.3%)和单基因疾病(22.2%)。分娩时的中位胎龄为38w3d，从程序到交货日期之间平均为59天。术后2周内总并发症发生率为1.2%。我们发现在24-28周和28-32周之间进行羊膜穿刺术的孕妇之间早产率没有显着差异，在这些妊娠期加强手术的安全性。
结论：晚期羊膜穿刺术，在妊娠24周时或之后，尤其是妊娠合并多种先天性异常，诊断率高，并发症发生率低，强调其临床实用性。它在分娩前为孕妇及其提供者提供全面的诊断评估和结果，使知情的咨询和优化围产期和新生儿护理计划。
