Prenatal detection of chromosome abnormalities has been offered for more than 40 years, first by amniocentesis in the early 1970s and additionally by chorionic villus sampling (CVS) in the early 1980s. Given the well-recognized association between increasing maternal age and trisomy,1-3 the primary utilization of prenatal testing has been by older mothers. This has drastically reduced the incid...

Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex chromosomal aneuploidies noninvasively. Case reports describing the detection of fetal microdeletions from maternal plasma using massively parallel sequencing have been reported. However, these previous reports were either...

OBJECTIVE Noninvasive prenatal testing (NIPT) via cell-free fetal DNA in the maternal circulation is a highly sensitive and specific new testing option. The objective of this study was to determine the impact of NIPT on the uptake of first trimester screening (FTS) and invasive genetic testing. STUDY DESIGN Uptake of prenatal testing was investigated in women referred for advanced maternal ag...

Identifying pregnancies at increased risk for aneuploidy has been a part of the practice of maternal–fetal medicine for several decades. Originally, women were identified based on maternal age alone and given the option of diagnostic testing via chorionic villus sampling (CVS) or amniocentesis to determine the fetal karyotype. Recently, maternal serum screening tests, with or without ultrasound...

OBJECTIVES Prenatal screening for Down syndrome has become standard practice in many western countries. In the Netherlands, however, prenatal screening tests for congenital defects are not offered routinely. The present study aims to assess test uptake in a large, unselected population of pregnant women, and to give more insight into the decision for or against prenatal screening through nuchal...

PURPOSE OF REVIEW Noninvasive prenatal testing (NIPT) through the analysis of cell-free DNA in maternal plasma has rapidly changed screening for fetal chromosome abnormalities. We review practical and ethical challenges associated with the transition, progress in their resolution, and identify new emerging difficulties. RECENT FINDINGS NIPT is an advanced screening test for trisomies 21, 18, ...

t u e t Noninvasive prenatal diagnosis using cell-free fetal DNA in the maternal plasma is moving into routine clinical practice for some indications. Here we discuss exciting developments in noninvasive prenatal diagnosis for aneuploidy afforded by recent publications, including 2 papers published in this journal, and highlight some of the issues that need to be considered before these tests c...

OBJECTIVE To describe the clinical experience with noninvasive prenatal testing for fetal sex chromosomes using sequencing of maternal plasma cell-free DNA in a commercial laboratory. METHODS A noninvasive prenatal testing laboratory data set was examined for samples in which fetal sex chromosomes were reported. Available clinical outcomes were reviewed. RESULTS Of 18,161 samples with sex c...

OBJECTIVE To analyze trends in screening and invasive prenatal diagnosis of chromosome abnormalities (CA) over a 13-year period and correlate them to changes in the national prenatal screening policy. METHODS We retrospectively reviewed Down syndrome (DS) screening tests and fetal karyotypes obtained by prenatal invasive testing (IT) in our fetal medicine unit between January 1999 and Decembe...

For decades, noninvasive analysis of the fetal genotype has been the holy grail of the field of prenatal diagnosis. Noninvasive prenatal diagnosis (NIPD) would use a sample source other than amniocentesis or chorionic villus sampling. The focus has been primarily on the use of maternal blood samples, with less attention given to the possibility of recovering fetal cells from maternal cervical s...