Publications

Introduction: Identifying hydatidiform moles (HMs) is crucial due to the risk of gestationaltrophoblastic neoplasia. When a HM is suspected on clinical findings, surgical termination isrecommended. However, in a substantial fraction of the cases, the conceptus is actually a nonmolar miscarriage. If distinction between molar and non-molar gestations could be obtainedbefore termination, surgical intervention could be …

Diagnosis of hydatidiform moles using circulating gestational trophoblasts isolated from maternal blood Read More »

Objectives: Cystic fibrosis (CF) is one of the most common severe autosomal recessive disorders. Prenatal or preconception CF screening is offered in some countries. A maternal blood sample in early pregnancy can provide circulating trophoblasts and offers a DNA source for genetic analysis of both the mother and the fetus. This study aimed to develop …

Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease‐causing variants Read More »

Background: The existing risk of procedure-related miscarriage following invasive sampling for prenatal diagnosis is higher for twin pregnancies and some women are reluctant to test these typically difficultly obtained pregnancies invasively. Therefore, there is a need for noninvasive testing options that can test twin pregnancies at an earlygestational age and ideally test the twins individually. …

Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy Read More »

Background: Cell-free NIPT and cell-based NIPT are risk-free testing options using maternal blood samples to screen for fetal aneuploidies, but the methods differ. For cell-free NIPT, the fetal fraction of cell-free DNA in plasma is analyzed with a highbackground of maternal DNA. In contrast, for cell-based NIPT, a limited number of the rare, intact fetal …

Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome—Applications and Advantages of Cell-Based NIPT Read More »

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 …

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

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 …

Hydatidiform mole diagnostics using circulating gestational trophoblasts isolated from maternal blood Read More »

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 »

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 …

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