Clinical Implementation of Next-generation Sequencing in the Field of Prenatal Diagnostics

The possibility to receive genetic information of the fetus from maternal blood during the course of pregnancy has been one of the main goals of research in prenatal medicine for decades. First, the detection of cell-free fetal DNA in maternal blood and finally, the development of the powerful technique of “next-generation sequencing” (NGS) were required to finally transfer this analysis into clinical practice. Since its introduction in 2011, the clinical demand for the technique of non-invasive prenatal testing (NIPT) has been enormous. NIPT initially was available for the most common aneuploidies (trisomy 21, 13, and 18), but the varieties of diseases that can be detected prenatally by NIPT are increasing rapidly

Controversies in hybrid banking: attitudes of Swiss public umbilical cord blood donors toward private and public banking

Purpose: Umbilical cord blood (UCB) stored in public inventories has become an alternative stem cell source for allogeneic stem cell transplantation. The potential use of autologous UCB from private banks is a matter of debate. In the face of the limited resources of public inventories, a discussion on "hybrid” public and private UCB banking has evolved. We aimed to explore the attitudes of the donating parents toward public and private UCB banking. Study design and methods: A standardized, anonymous questionnaire was sent to the most recent 621 public UCB donors including items regarding satisfaction with recruitment process, the need for a second consent before release of the UCB unit for stem cell transplantation, and the donors' views on public and private UCB banking. Furthermore, we asked about their views on UCB research. Results: Of the questionnaires, 48% were returned, and 16% were lost due to mail contact. Of our donors, 95% would donate to the public bank again. As much as 35% of them were convinced that public banking was useful. Whereas 27% had never heard about private UCB banking, 34% discussed both options. Nearly 70% of donors opted for public banking due to altruism and the high costs of private banking. Of our public UCB donors, 81% stated that they did not need a re-consent before UCB release for stem cell transplantation. In case of sample rejection, 53.5% wanted to know details about the particular research project. A total of 9% would not consent. Conclusions: Almost all donors would choose public banking again due to altruism and the high costs of private banking. Shortly after donation, mail contact with former UCB donors was difficult. This might be a relevant issue in any sequential hybrid bankin

The special role of ultrasound for screening, staging and surveillance of malignant ovarian tumors: distinction from other methods of diagnostic imaging

Ovarian cancer is the most aggressive gynecologic malignancy, with a 5-year survival rate ranging around 40%. A crucial factor influencing the prognosis is early detection of a suspicious mass and referral to a gynecologic oncology center for further diagnosis, staging and debulking surgery. Here, we present the different imaging methods ultrasound (US), magnetic resonance imaging, computer tomography (CT) and 18F-fluoro-deoxyglucose positron emission tomography (PET)/CT that are used for the characterization, diagnosis, staging and surveillance of ovarian cancer. In this review, we focus on US and discuss in detail the advantages and the limitations, as well as the appropriate indications for each of the individual imaging techniques

The special role of ultrasound for screening, staging and surveillance of malignant ovarian tumors: distinction from other methods of diagnostic imaging

Ovarian cancer is the most aggressive gynecologic malignancy, with a 5-year survival rate ranging around 40%. A crucial factor influencing the prognosis is early detection of a suspicious mass and referral to a gynecologic oncology center for further diagnosis, staging and debulking surgery. Here, we present the different imaging methods ultrasound (US), magnetic resonance imaging, computer tomography (CT) and 18F-fluoro-deoxyglucose positron emission tomography (PET)/CT that are used for the characterization, diagnosis, staging and surveillance of ovarian cancer. In this review, we focus on US and discuss in detail the advantages and the limitations, as well as the appropriate indications for each of the individual imaging techniques

Implementing preeclampsia screening in Switzerland (IPSISS) - first results from a multicentre registry.

Introduction The Fetal Medicine Foundation(FMF) London developed a first trimester combined screening algorithm for preterm preeclampsia(pPE) that allows a significantly higher detection of pregnancies at risk compared to conventional screening by maternal risk factors only. The aim of this trial is to validate this screening model in the Swiss population in order to implement this screening into routine first trimester ultrasound and to prescribe low dose aspirin 150mg(LDA) in patients at risk for pPE. Therefore, a multicentre registry study collecting screening and pregnancy outcome data was initiated in2020;these are the preliminary results. Methods Between June1st2020 and May31st2021 we included singleton pregnancies with pPE screening at the hospitals of Basel, Lucerne and Bern. Multiple of Medians(MoMs) of uterine artery pulsatility index(UtA-PI), mean arterial pressure(MAP), placental growth factor(PlGF) and pregnancy associated plasma protein A(PAPP-A) as well as risks were analysed as calculated by each centre's software and recalculated on the FMF online calculator for comparative reasons. Statistical analyses were performed by GraphPad Version9.1. Results During the study period 1027patients with singleton pregnancies were included. 174(16.9%) had a risk>1:100 at first trimester combined screening. Combining the background risk, MAP, UtA-PI and PlGF only, the cut-off to obtain a SPR of 11% is≥1:75. Outcomes were available for 968/1027(94.3%) patients, 951 resulted in live birth. 15(1.58%) developed classical PE, 23(2.42%) developed PE according to the ISSHP(International Society for the Study of Hypertension in Pregnancy) definition. Conclusion First trimester combined screening for PE and prevention with LDA results in a low prevalence of PE.The screening algorithm performs according to expectations, however the cut-off of>1:100 results in a SPR above the accepted range and a cut-off of≥1:75 should be considered for screening. More data are needed to evaluate, if these results are representative for the general Swiss population

Improving Neonatal and Maternal Outcome by Inducing Mild Labor before Elective Cesarean Section: The Lacarus Randomized Controlled Trial

BACKGROUND Newborns delivered by elective cesarean section (CS) are at higher respiratory risk than those delivered vaginally or by CS proceeded by labor (secondary CS). The oxytocin challenge test (OCT) induces uterine contractions that trigger the release of fetal hormones regulating lung fluid clearance during transition from the uterine to an air-breathing environment. OBJECTIVES The aim is to summarize current evidence and outline the Lacarus trial protocol. METHODS Literature review informed the design of a randomized placebo-controlled multicenter trial of OCT preceding elective CS in 1,450 women with a singleton pregnancy due for CS at >35 weeks gestation, without preceding contractions, rupture of the membranes, or antenatal steroids. OCT comprises the infusion of oxytocin 5 IU/500 mL Ringer lactate at a rate of 12 mL/h, doubling every 10 min until inducing 5 uterine contractions per 15-min interval. The primary endpoint is the occurrence of neonatal respiratory morbidity within 24 h after birth. Secondary endpoints include biochemical and physiological parameters of fetal and maternal well-being, such as breastfeeding rate and fetal plasma copeptin concentrations. CONCLUSION This is the first trial to test the hypothesis that oxytocin-induced contractions before elective CS is a promising application of physiologic principles gleaned from natural birth to improve neonatal and maternal outcomes