Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling.

OBJECTIVE: To develop a multi-step workflow for the isolation of circulating extravillous trophoblasts (cEVTs) by describing the key steps enabling a semi-automated process, including a proprietary algorithm for fetal cell origin genetic confirmation and copy number variant (CNV) detection. METHODS: Determination of the limit of detection (LoD) for submicroscopic CNV was performed by serial experiments with genomic DNA and single cells from Coriell cell line biobank with known imbalances of different sizes. A pregnancy population of 372 women was prospectively enrolled and blindly analyzed to evaluate the current workflow. RESULTS: An LoD of 800 Kb was demonstrated with Coriell cell lines. This level of resolution was confirmed in the clinical cohort with the identification of a pathogenic CNV of 800 Kb, also detected by chromosomal microarray. The mean number of recovered cEVTs was 3.5 cells per sample with a significant reverse linear trend between gestational age and cEVT recovery rate and number of recovered cEVTs. In twin pregnanices, evaluation of zygosity, fetal sex and copy number profiling was performed in each individual cell. CONCLUSION: Our semi-automated methodology for the isolation and single-cell analysis of cEVTS supports the feasibility of a cell-based noninvasive prenatal test for fetal genomic profiling.

The Birth Satisfaction Scale-Revised (BSS-R): process of translation and adaptation in an Italian context.

INTRODUCTION: The Birth Satisfaction Scale-Revised (BSS-R) is a tool to assess women's childbirth satisfaction. The aim of this research was to achieve the cross-cultural and conceptual equivalence of the BSS-R tool in Italian. METHOD: The World Health Organization (WHO) method was adopted to achieve the BSS-R in Italian. This is a well-established method using forward-translations and back-translations. This process has been refined in the course of several WHO studies to result in five steps: forward translation, expert panel translation, back-translation, pre-testing and cognitive interviewing, final version. RESULTS: The forward translation step developed an Italian version of the BSS-R, this was revised by an expert panel. During the pretesting and cognitive interviewing step, 100 women were involved to check if the instrument was understandable and they did not report any difficulties to comprehend the questionnaire. Women repeated with different expressions and words items 1, 7 and 9. After a conceptual analysis of the sentences used by women during the debriefing stage, items 1 and 9 have been changed. At the end of the process, we had a final version of the questionnaire in Italian. DISCUSSION: The BSS-R should be a reliable instrument to be adopted by healthcare professionals, researches and managers in order to improve Italian maternity services with the aim to offer a positive experience of childbirth.

Intrapartum care quality indicators: a literature review.

INTRODUCTION: Quality of care is increasingly recognized as a critical aspect of the maternal and newborn health, mainly with respect to care around labor and delivery and in the immediate postnatal period. The aim of this review was to identify the recommended intrapartum care indicators in order to measure the quality of midwifery care. EVIDENCE ACQUISITION: A structured literature search was conducted in August 2017 incorporating English and Italian language studies from 1993 and onwards to identify published articles on quality standards of intrapartum care. Research was performed into the area of enquiry in electronic database (Medline, Cochrane Library, CINAHL, Trip) and in relevant midwifery websites. EVIDENCE SYNTHESIS: We identified 369 quality indicators to measure the intrapartum care. Following a systematic process that allows to classify all indicators in domains and categories, we analyzed 268 outcome and process indicators specifically designated to monitor the intrapartum care in a low risk population. Through the identification of further exclusion criteria and semantic analogies we obtained 80 final quality indicators (39 outcome indicators and 41 process indicators). CONCLUSIONS: We identified 80 indicators that should be used to measure the quality of low risk intrapartum care. Although the majority of indicators we could monitor through hospital databases and the Italian Birth Register-CeDAP are outcome indicators, it is important to give attention also to process indicators that measure the activities performed and whether or not they are evidence-based. For a low risk population they could measure adherence with guidelines that promote and support the normality of the process.