Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis

It has long been appreciated that genetic analysis of fetal or trophoblast cells in maternal blood could revolutionize prenatal diagnosis. We implemented a protocol for single circulating trophoblast (SCT) testing using positive selection by magnetic-activated cell sorting and single-cell low-coverage whole-genome sequencing to detect fetal aneuploidies and copy-number variants (CNVs) at ∼1 Mb resolution. In 95 validation cases, we identified on average 0.20 putative trophoblasts/mL, of which 55% were of high quality and scorable for both aneuploidy and CNVs. We emphasize the importance of analyzing individual cells because some cells are apoptotic, in S-phase, or otherwise of poor quality. When two or more high-quality trophoblast cells were available for singleton pregnancies, there was complete concordance between all trophoblasts unless there was evidence of confined placental mosaicism. SCT results were highly concordant with available clinical data from chorionic villus sampling (CVS) or amniocentesis procedures. Although determining the exact sensitivity and specificity will require more data, this study further supports the potential for SCT testing to become a diagnostic prenatal test

Migration of Intra-Uterine Devices

Victoria Verstraeten,1,2 Karlien Vossaert,2 Thierry Van den Bosch1 1Obstetrics & Gynaecology - UZ Leuven Gasthuisberg, Leuven, Belgium; 2Obstetrics & Gynaecology – AZ Sint- Blasius Dendermonde, Dendermonde, BelgiumCorrespondence: Victoria Verstraeten, Email [email protected]: Intrauterine devices (IUDs) are a widely used contraceptive. Possible complications from IUDs include failed insertion, pain, vasovagal reaction, infection, abnormal bleeding, and expulsion. Uterine perforation and migration of the IUD are rare complications occurring in approximately 1– 2 per 1000 insertions. We executed a systematic review by reviewing all case reports and case series on IUD migration, published between December 2002 and December 2022. Our review indicates that about half of these patients present with pain and that a third are completely asymptomatic. The most common sites of migration are the intestine, bladder, and omentum. We found that the preferred method for removing the migrated IUD is laparoscopy. Generally, there are no lasting injuries after the removal of the migrated IUD, but occasionally, severe complications have been reported. Healthcare providers should be vigilant about this rare complication, especially in cases of painful insertion or the presence of other risk factors for perforation. When uterine perforation is diagnosed, it is advisable to remove the IUD to prevent severe complications.Keywords: uterine perforation, missing IUD, long-acting reversible contraceptive, complicatio