A Four-Year Retrospective Study of Amniocentesis in a Tertiary Care Center in South India-Lessons Learnt.

Background

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.

Objective

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.

Methods

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.

Results

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.

Conclusion

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.