Christoffer Nedergaard

Objective: We aimed to develop cell-based NIPT for cystic fibrosis (CF) and test a pregnancy at risk of two common pathogenic variants. Method: A pregnant woman carrying monozygotic twins opted for prenatal testing as she and her partner were heterozygote carriers of F508del (c.1521:1523del). The partner was also positive for the CFTR-related variant R117H (c.350G>A). …

Cell-based non-invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis Read More »

In two cases, cell-based noninvasive prenatal testing (cb- NIPT) detected copy number variations (CNVs): a 7 Mb de- letion of 15q11q13 covering the Prader-Willi region and a 4.6 Mb deletion at 3p26.3p26.1. This may potentially be an improved noninvasive alternative for the detection of smaller CNVs. Denmark has a tax-financed combined first trimester screening program …

Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations Read More »

Introduction: Globally, preterm birth has replaced congenital malformation as the major cause of perinatal mortality and morbidity. The reduced rate of congenital malformation was not achieved through a single bio- physical or biochemical marker at a specific gestational age, but rather through a combination of clinical, bio- physical and biochemical markers at different gestational ages. …

Commentary on a combined approach to the problem of developing biomarkers for the prediction of spontaneous preterm labor that leads to preterm birth Read More »

Introduction: Circulating fetal extravillous trophoblasts may offer a superior alternative to cell-free fetal DNA for noninvasive prenatal testing. Cells of fetal origin are a pure source of fetal genome; hence, unlike the cell-free noninvasive prenatal test, the fetal cell-based noninvasive prenatal test is not expected to be affected by maternal DNA. However, circulating fetal cells …

Do fetal extravillous trophoblasts circulate in maternal blood postpartum? Read More »

We present the first study that investigates the effect of ma- ternal body mass index (BMI) on the quantity of circulating fetal cells available to use in cell-based noninvasive prenatal test (cbNIPT). cbNIPT has been proposed as a superior alter- native to noninvasive prenatal test from cell-free fetal DNA. Kølvraa et al. [Prenat Diagn. 2016 …

Does Maternal Body Mass Index Affect the Quantity of Circulating Fetal Cells Available to Use for Cell-Based Noninvasive Prenatal Test in High-Risk Pregnancies? Read More »

Objective: Trophoblastic fetal cells harvested from maternal blood have the capacity to be used for copy number analyses in a cell‐based non‐invasive prenatal test (cbNIPT). Potentially, this will result in increased resolution for detection of subchromosomal aberrations due to high quality DNA not intermixed with maternal DNA. We present 5 selected clinical cases from first …

On the road to replacing invasive testing with cell‐based NIPT: Five clinical cases with aneuploidies, microduplication, unbalanced structural rearrangement, or mosaicism Read More »

For decades it has been common knowledge that some cells from the developing fetus make their way into maternal circulation, and that this process starts in the early weeks of first trimester. Naturally, when alternative technologies for prenatal diagnosis were being explored, the use of fetal cells for noninvasive prenatal diagnosis came on top of …

Fetal cells in maternal blood for prenatal diagnosis: a love story rekindled Read More »

Objective Non-invasive prenatal testing (NIPT) based on fetal cells in maternal blood has the advantage over NIPT based on circulating cell-free fetal DNA in that there is no contamination with maternal DNA. This will most likely result in better detection of chromosomal aberrations including subchromosomal defects. The objective of this study was to test whether …

Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women Read More »

Introduction: Fetal cells in maternal blood may be used for noninvasive prenatal diagnostics, although their low num- ber is a challenge. This study’s objectives were to evaluate whether physical activity, transabdominal and transvaginal ultrasound scans of the uterus, as well as overnight or day- to-day variation affect the number of isolated fetal cells, more specifically …

The Number of Endovascular Trophoblasts in Maternal Blood Increases Overnight and after Physical Activity: An Experimental Study Read More »

Screening for fetal chromosome aneuploidies in high risk pregnancies has for decades been offered in many countries. Until now the sampling of fetal material for this purpose has been done by invasive procedures such as chorionic villus sampling or amniocentesis, which carry a 0.5–2% risk of unintended termina- tion of the pregnancy [1]. Due to …

Fetal Gender and Several Cytokines Are Associated with the Number of Fetal Cells in Maternal Blood – An Observational Study Read More »