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Fig. 1 displays the ECS test-offer and accouterment of care. By sending out an allurement letter, accommodating GPs offered all potentially acceptable women registered in their practices the befalling to booty allotment in the ECS testing program. Couples who were absorbed in the ECS assay could accomplish an arrangement for pre-test counselling with the agreeable GP. Afterwards they would adjudge whether or not to advance with testing. The ECS-test was alone attainable to couples who accustomed pre-test counselling and couples were adapted to appear pre-test counselling together.

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Overview of ECS test-offer, accouterment of affliction and abstraction design.GPs provided pre-test counselling to couples absorbed in ECS testing. Subsequently, couples could adjudge to advance with testing. We acclimated a mixed-methods longitudinal abstraction in which assessments were fabricated at four time credibility (T0-T3) through either questionnaires and/or semi-structured interviews, with couples and accommodating GPs as abstraction participants

Trained GPs were asked to accommodate pre-test counselling about ECS in aggregate with accustomed assumption affliction (GPC) admonition (e.g., admonition about folic acerbic supplementation, abeyance of booze use or smoking). For this counselling, a double-consultation time was attainable (20 min). Referral to the Analytic Assay administration of the UMCG was attainable for couples articular to accept above-mentioned added risk, e.g., due to doubtable ancestors history of a abiogenetic condition. Couples who proceeded with the ECS assay could accord a claret sample application appeal forms provided by the GP. The UMCG Genomics Laboratory performed the test. With a turn-around time of 8 weeks, GPs accustomed a aftereffect for couples who provided claret samples and again announced the after-effects to them. A brace was advised a carrier brace if both brace associates accept a chic IV or V alternative in one of the backward ache genes included in the test.

Carrier couples, but additionally non-carrier couples with actual questions, could be referred to Analytic Assay for post-test counselling. We additionally launched a about attainable website with accustomed advice about the 50 AR conditions, the ECS test, and accompanying procedures ( The assay team, including the abiogenetic advocate involved, could be contacted through the website. There were no accommodating expenditures associated with the abstraction and test-participation. PGT-M and PND for austere altitude such as those included in this ECS-test are attainable to aerial accident couples. In the Netherlands, costs of PGT-M and prenatal testing are covered by accustomed bloom insurance.

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Figure 1 additionally depicts the abstraction design. We acclimated a alloyed methods longitudinal architecture with four abstraction time credibility (T0–T3), with couples and GPs as abstraction participants. GPs were asked to appraise anniversary alone pre-test counselling at T1. At T3 they were arrive to booty allotment in semi-structured one-to-one interviews to analyze their all-embracing acquaintance with test-provision. A assay able complex in the training supervised the aboriginal two pre-test counselling sessions of anniversary GP. Couples were asked to ample out an online survey. Couples who abounding pre-test counselling accustomed three (T0, T1, T3) to four (T0, T1, T2, T3) questionnaires, depending on whether they proceeded with testing. The abstraction agreement was accustomed by the UMCG Medical Assay Ethics Committee (METc 2015/384).

Study accord was accessible to GPs in the catchment breadth of the UMCG. Staff from the Assay Administration and the Administration of Accustomed Convenance aboriginal approached potentially absorbed GPs alone and a application bulletin was added to a newsletter for GPs. GPs from 34 practices accustomed the abstraction information. Nineteen GPs from nine practices agreed to participate. One convenance (no. 9) withdrew during the abstraction because they were too active to facilitate abstraction participation. No added invitations were sent, but participants already included could still appear pre-test counselling, and advance with testing.

Prior to the alpha of the study, all GPs were adapted to participate in a 2.5 h training affair about pre-test counselling developed by the assay team. This training affair included accomplishments advice about ECS and added accustomed aspects of assumption affliction and an alternate affair about changeable abiogenetic pre-test counselling. An advice album was provided to accompaniment the training that provided accomplishments advice and a counselling guideline with important items to discuss. Two weeks afterwards the training, all GPs abounding out an online check testing their knowledge. GPs accustomed abundant acknowledgment on their incorrect answers above-mentioned to alpha of the counselling. Support from the analytic assay professionals was attainable as bare throughout the study.

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Between January and December 2016, accommodating GPs called and arrive all potentially acceptable women age-old 18-40 registered in their practices to participate. Eligibility belief were not actuality pregnant, accepting a (male) accomplice and planning to accept accouchement with this partner. Abundant women were excluded, because the turnaround time of the test-result was a best of eight weeks at that time. Additionally, the added abilities apparently bare for ‘urgency counselling apropos ECS in pregnancy’ requires altered counselling abilities of GPs which were not yet allotment of our basic training. The women were asked to allure their ally in the study. Couples who were absorbed in the ECS assay could accomplish an arrangement for pre-test counselling with the GP afterwards both ally had accustomed accounting accord to participation. They could adjudge whether to advance with testing afterwards accessory this appointment. Invitations were beatific by mail and included a letter active by the GP, a acknowledgment agenda and an advice leaflet. This assay advice advertisement consisted of the blazon of altitude included in the test, the affairs of actuality a carrier brace and of accepting an afflicted child, changeable options attainable for carrier couples, and assay procedures. It additionally included a articulation to the website for added information. Women who were acceptable and absorbed in accommodating accustomed added abundant abstraction information.

Feasibility was evaluated in agreement of the authoritative aspects of this GP-provided ECS test-offer and the accouterment of care, with a focus on the pre-test counselling. We explored GP adventures and angle on the ECS assay to appraise achievability and advance approaching implementation. We adopted Marteau et al., (2001)’s analogue of IC, who developed the Multidimensional Admeasurement of Abreast Best (MMIC) to admeasurement IC in affiliation to prenatal screening for Down’s affection [19]. A best was advised ‘informed’ if participants had acceptable ability and accustomed the assay action (in case of a absolute attitude) or beneath the test-offer (in case of a abrogating attitude) [19]. Table 1 displays the capacity and items investigated, which are based on accordant abstract [1, 16, 17, 20,21,22]. The authoritative aspects of the ECS test-offer were evaluated quantitatively as the time acclimated for pre-test counselling and qualitatively through assay focused on barriers and facilitators. Pre-test counselling was evaluated in agreement of competence, agreeable and patient-satisfaction. Adequacy was advised by the assay professionals afterwards administration and evaluated by GPs during the interviews. Both couples and GPs evaluated the content. Couples additionally rated their achievement with pre-test counselling. Specific measures, instruments and capacity are declared in Suppl. 1.

Data on the continuance of the appointment and items discussed during pre-test counselling were calm by a account for GPs that was abounding out afterwards anniversary pre-test counselling (T1). The account included eleven items that GPs were adapted to altercate during pre-test counselling (see added advice for list). They were asked to announce if they discussed the account (yes, somewhat, no), and if not, why not. Abstracts on items discussed during pre-test counselling (i.e., their perceived accent and time spent on them), achievement with pre-test counselling and abreast best were calm by couples’ questionnaires application the Roqua online apparatus for arcane analytic abstracts accumulating [23]. The IC admeasurement consisted of bristles ability items capturing capital advice about ECS testing and two attitude items. We additionally asked couples to ample out these ability items afterwards pre-test counselling as allotment of our accouterment of affliction to verify that couples who proceeded with testing were acquainted of the actual information. We would alarm them for added altercation if they answered any of the bristles questions incorrectly. Couples could burden from accepting the assay afterwards this added information, which happened in one occasion. Abstracts on appointment duration, items discussed during counselling, accommodating satisfaction, and abreast best were declared application percentages, beggarly (SD) or boilerplate (IQR) area appropriate, application SPSS IBM adaptation 23.

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Ten semi-structured one-to-one interviews were captivated with GPs. Two GPs who conducted counselling did not participate due to abridgement of time and the GP who withdrew from the abstraction did additionally not participate. A affair adviser was developed absolute advancing questions accompanying to the achievability aspects of this GP-provided test. Interviews were conducted by a accomplished researcher (JS), audio-recorded and transcribed verbatim. The boilerplate continuance of the interviews was 41 minutes (range 20-60 min). Abstracts assay was conducted according to the framework access of Ritchie and Spencer [24]. Framework assay follows a action of familiarization, summarizing and coding, which after-effects in matrices presenting the abstracts per affair and case to acquiesce added in abyss assay and allegory beyond interviewees. Atlas –ti (version.5.2.18 absorb 1993-2018 by ATLAS.ti Scientific Software Development GMbH Berlin) was acclimated to facilitate analysis. Two advisers (JS, LvdH) apart coded the aboriginal three interviews, and differences in coding were discussed until accord was reached. LvdH after coded all interviews, including the aboriginal three, while JS coded genitalia of all interviews about and area LvdH had doubts. Final contemporary framework matrices were after discussed aural the assay accumulation until accord was reached. The basic abstracts were alternate to the interviewees for affiliate blockage [25]. We accustomed six forms, all acknowledging our conclusions.

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