Publications

Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing

Purpose: Proof of concept of the use of cell-based non-invasive prenatal testing (cbNIPT) as an alternative to chorionic villus sampling (CVS) following preimplantation genetic testing for monogenic disorders (PGT-M). Method: PGT-M was performed by combined testing of short tandem repeat (STR) markers and direct mutation detection, followed by transfer of an unaffected embryo. Patients who …

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Hydatidiform mole diagnostics using circulating gestational trophoblasts isolated from maternal blood

Background: In gestational trophoblastic disease, the prognosis is related to the genetic constitution. In some cases, taking a biopsy is contraindicated. Methods: In a pregnant woman, ultrasound scanning suggested hydatidiform mole. To explore if the genetic constitution can be established without taking a biopsy (or terminating the pregnancy), cell-free DNA and circulating gestational trophoblasts were …

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

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). …

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

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 …

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The Number of Circulating Fetal Extravillous Trophoblasts Varies from Gestational Week 6 to 20

Cell-based non-invasive prenatal testing (cbNIPT) based on circulating fetal extravillous trophoblasts (fEVTs) has shown to be possible in gestational week (GW) 10–13. Prenatal testing is relevant for a wider time period than GW10–13, but it is unclear if fEVTs are present in sufficient numbers for cbNIPT at other time points during pregnancy.  We present the …

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

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. …

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Do fetal extravillous trophoblasts circulate in maternal blood postpartum?

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 »

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?

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 »

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

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 »

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

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 »