Publications

Abstract Objectives: We aimed to compare cell‐based NIPT (cbNIPT) to chorionic villus sampling (CVS) and to examine the test characteristics of cbNIPT in the first clinical validation study of cbNIPT compared to cell‐free NIPT (cfNIPT).  Material and Methods: Study 1: Women (N = 92) who accepted CVS were recruited for cbNIPT (53 normal and 39 …

How does cell‐based non‐invasive prenatal test (NIPT) perform against chorionic villus sampling and cell‐free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark Read More »

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 »