Impact of introduction of noninvasive prenatal testing on uptake of genetic testing in fetuses with central nervous system anomalies

Abstract

Objective:To evaluate the impact of introduction of noninvasive prenatal testing (NIPT) on the uptake of invasive testing in pregnancies complicated by fetal central nervous system (CNS) anomalies. Methods:Retrospective review of all singleton pregnancies complicated by fetal CNS anomalies seen at a single tertiary center between 2010 and 2017. Cases who had undergone invasive testing or NIPT prior to the diagnosis of the CNS anomaly were excluded. Cases were segregated according to whether they were seen prior to introduction of NIPT (group A, 2010-2013) or thereafter (group B, 2014-2017).We examined the rate of invasive and noninvasive genetic testing in each group. Results:We retrieved 500 cases: 308 (62%) were isolated CNS anomalies, and 192

Fetal spina bifida: What we tell the parents

“…At the time of amniocentesis, alpha‐fetoprotein levels and acetylcholine‐esterase levels in the amniotic fluid can be determined, as they will be elevated in open lesions, but this has been abandoned by many centers given the high accuracy of ultrasound 48 . Non‐invasive prenatal testing is suboptimal in the presence of fetal anomalies as it will only detect the common trisomies and miss a significant number of copy number variants 49 …”