ABSTRACT

HISTORICAL BACKGROUND Amniocentesis is the most commonly performed invasive prenatal diagnostic test. Over a century ago, initial reports of extracting amniotic uid from the gravid uterus appeared for the treatment of polyhydramnios.1 Over the past few decades, indications for its use have signicantly evolved. Amniocentesis was performed in the 1930s to identify the placental location and for the purpose of pregnancy termination by the instillations of dye and hypertonic saline, respectively.2 Subsequently, in the 1950s, amniocentesis was utilized to monitor the progression of rhesus isoimmunization3 and for fetal sex determination.4 It was not until the 1960s that amniocentesis was used for the prenatal diagnosis of fetal abnormalities,5 including the evaluation of metabolic derangements.6 In the 1970s, amniocentesis was used to assess fetal lung maturity7 and as an adjunct in the diagnosis of fetal neural tube defects with the amniotic uid alpha-fetoprotein assay.8 Currently, the diagnostic capabilities for invasive amniocentesis in the eld of prenatal diagnosis are vast. However, the utility of this genetic test has evolved with the result of novel screening algorithms and with the advent of noninvasive screening technologies.9