Jahnavi Jetti Gayatri, Shivananda Roopa Padavagodu, Vasudeva Akhila, Hegde Nivedita, Natarajan Rashmi
Department of Obstetrics and Gynecology, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Division of Fetal Medicine, Department of Obstetrics and Gynecology, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
J Pregnancy. 2025 Aug 21;2025:9983529. doi: 10.1155/jp/9983529. eCollection 2025.
Amniocentesis (AC) remains the most commonly performed prenatal invasive diagnostic test. The data available till now have been collected before the era of high-end ultrasound machines, NIPS, and chromosomal microarrays. In selected cases, whole-exome sequencing is also offered prenatally. The evolution of ultrasound, NIPS, and genetic testing has made us revisit this topic. We aimed to research and revisit AC data regarding the indications, procedures, genetic testing methods, and outcomes. We reinforce the knowledge of AC, offer tips to minimize complications, and help communicate and counsel patients based on the AC data. It was a retrospective study from October 2019 to March 2023 in a tertiary care fetal medicine center in a university hospital. A total of 321 patients who underwent AC were analyzed. We observed the demographic details, indications, procedure details, and maternal-fetal and neonatal outcomes. During the study period, 321 patients underwent AC. Abnormal ultrasound findings (71%) were the most common indication for AC. Then, 9% (30/321) had abnormal genetic results. Down syndrome was the most common abnormality (14), followed by Edwards syndrome. Then, 47.96% of cases were in age > 35 years. We had three cases of bloody tap, one leak per vagina, and two missed abortions following AC. Then, 58% had live births. AC is a relatively safe procedure, and even with the advent of NIPS, it remains the gold standard prenatal diagnostic genetic testing method. Major structural anomalies and parental chromosomal anomalies are irreplaceable indications of AC. The technique and expertise of health professionals dictate the complication rate of that center. Chromosomal microarray, DNA storage, and whole-exome sequencing have added an extended armamentarium to our discovery of genetic diseases. Maternal and neonatal outcomes after AC are favorable, so do not hesitate to carry out this invasive test when indicated.
羊膜穿刺术(AC)仍然是最常进行的产前侵入性诊断测试。目前可获得的数据是在高端超声机器、无创产前检测(NIPS)和染色体微阵列时代之前收集的。在某些特定情况下,也会在产前提供全外显子测序。超声、NIPS和基因检测的发展促使我们重新审视这个话题。我们旨在研究并重新审视有关AC的指征、操作程序、基因检测方法及结果的数据。我们强化对AC的认识,提供将并发症降至最低的技巧,并基于AC数据帮助与患者沟通及提供咨询。这是一项于2019年10月至2023年3月在一所大学医院的三级医疗胎儿医学中心开展的回顾性研究。对总共321例行AC的患者进行了分析。我们观察了人口统计学细节、指征、操作程序细节以及母胎和新生儿结局。在研究期间,321例患者接受了AC。超声检查异常结果(71%)是AC最常见的指征。其次,9%(30/321)的患者基因检测结果异常。唐氏综合征是最常见的异常情况(14例),其次是爱德华兹综合征。然后,47.96%的病例年龄大于35岁。AC术后我们有3例出现血性穿刺,1例阴道渗漏,2例稽留流产。然后,58%的患者活产。AC是一种相对安全的操作,即使在NIPS出现后,它仍然是产前诊断基因检测的金标准方法。主要结构异常和父母染色体异常是AC不可替代的指征。卫生专业人员的技术和专业知识决定了该中心的并发症发生率。染色体微阵列、DNA存储和全外显子测序为我们发现遗传疾病增添了更多手段。AC术后的母胎和新生儿结局良好,因此在有指征时不要犹豫进行这项侵入性检查。