M. Meijer-Hoogeveen

Decision-making on preimplantation genetic diagnosis and prenatal diagnosis: a challenge for couples with hereditary breast and ovarian cancer

STUDY QUESTION How do couples with a BRCA1/2 mutation decide on preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) for hereditary breast and ovarian cancer syndrome (HBOC)? SUMMARY ANSWER BRCA couples primarily classify PGD and/or PND as reproductive options based on the perceived severity of HBOC and moral considerations, and consequently weigh the few important advantages of PGD against numerous smaller disadvantages. WHAT IS KNOWN ALREADY Awareness of PGD is generally low among persons at high risk for hereditary cancers. Most persons with HBOC are in favour of offering PGD for BRCA1/2 mutations, although only a minority would consider this option for themselves. Studies exploring the motivations for using or refraining from PGD among well-informed BRCA carriers of reproductive age are lacking. We studied the reproductive decision-making process by interviewing a group of well-informed, reproductive aged couples carrying a BRCA1/2 mutation, regarding their decisional motives and considerations. STUDY DESIGN, SIZE, DURATION This exploratory, qualitative study investigated the motives and considerations taken into account by couples with a BRCA1/2 mutation and who have received extensive counselling on PGD and PND and have made a well-informed decision regarding this option. Eighteen couples took part in focus group and dyadic interviews between January and September 2012. PARTICIPANTS/MATERIALS, SETTING, METHODS Semi-structured focus groups were conducted containing two to four couples, assembled based on the reproductive method the couple had chosen: PGD (n = 6 couples) or conception without testing (n = 8 couples). Couples who had chosen PND for BRCA (n = 4) were interviewed dyadically. Two of the women, of whom one had chosen PND and the other had chosen no testing, had a history of breast cancer. MAIN RESULTS AND THE ROLE OF CHANCE None of the couples who opted for PGD or conception without testing found the use of PND, with possible pregnancy termination, acceptable. PND users chose this method because of decisive, mainly practical reasons (natural conception, high chance of favourable outcome). Motives and considerations regarding PGD largely overlapped between PGD users, PND users and non-users, all mentioning some significant advantages (e.g. protecting the child and family from the mutation) and many smaller disadvantages (e.g. the necessity of in vitro fertilization (IVF), low chance of pregnancy by IVF/PGD). For female carriers, the safety of hormonal stimulation and the time required for PGD before undergoing preventive surgeries were important factors in the decision. Non-users expressed doubts about the moral justness of their decision afterwards and emphasized the impact the decision still had on their lives. LIMITATIONS, REASON FOR CAUTION The interviewed couples were at different stages in their chosen trajectory, up to 3 years after completion. This may have led to recall bias of original motives and considerations. Couples who did not actively seek information about PGD were excluded. Therefore the results may not be readily generalizable to all BRCA couples. WIDER IMPLICATIONS OF THE FINDINGS The perceived severity of HBOC and, for female carriers, the safety of hormonal stimulation and the time frames for PGD planning before preventive surgeries are essential items BRCA couples consider in reproductive decision-making. The emotional impact of this decision should not be underestimated; especially non-users may experience feelings of doubt or guilt up to several years afterwards. PGD counselling with tailored information addressing these items and decisional support in order to guarantee well-informed decision-making is needed. STUDY FUNDING/COMPETING INTEREST(S) This study was funded by the Dutch breast cancer foundation Stichting Pink Ribbon, grant number 2010.PS11.C74. None of the authors have competing interests to declare. TRIAL REGISTRATION NUMBER Not applicable.

Methods of sonographic cervical length measurement in pregnancy: A review of the literature

In this review we give an overview of the methods and pitfalls in cervical length measurements. We compared the different techniques and investigated factors that influence visualization of the cervix. The data in this overview may be used to establish guidelines in clinical practice.

Transvaginal ultrasound measurement of cervical length in the supine and upright positions versus Bishop score in predicting successful induction of labor at term

To examine the predictive value of cervical length as measured by transvaginal sonography (TVS) in supine and upright maternal positions for the mode of delivery and induction‐to‐delivery interval after induction of labor at term, and to compare these measurements with the Bishop score and its predictive value.

Transperineal versus transvaginal sonographic cervical length measurement in second‐ and third‐trimester pregnancies

To investigate the reliability of, and patient satisfaction with, transperineal cervical length measurement during the third trimester of pregnancy and to compare these with measurement during the mid‐trimester, using transvaginal sonographic imaging of the cervix as a reference.

Dynamic cervical length changes: Preliminary observations from 30-minute transvaginal ultrasound recordings

Objective. The purpose of this study was to visualize and quantify dynamic changes in the cervix and to study factors influencing cervical length. Methods. Eighteen women with a gestational age between 23 and 40 weeks were examined by transvaginal ultrasound during a continuous observation period of 30 minutes. Results. All women delivered at >34 weeks of gestation, fourteen at term. The overall mean difference between the shortest and longest cervical length during the 30-minute recordings (cervical length variation) was 10.9 mm (range 1.6–26.7 mm). In the presence of fetal movements directed at the cervix, peristaltic movement of the bowel or contractions, cervical length variation was larger than in the absence of these conditions (mean 12.7 mm, range 5.2–26.7 mm and mean 6.1 mm, range 1.6–9.4 mm, respectively; p = 0.03). Conclusions. Dynamic changes in cervical length are present at early gestation and long before delivery and can be observed either spontaneously or associated with contractions, fetal movements or peristalsis. These conditions must be considered as pitfalls in cervical length measurement. In critical cases, such as early threatened preterm labor, increases in the frequency and duration of sonographic ultrasound measurements may be helpful to obtain a more reliable estimation of the cervical status.

P13.14: The dynamics of cervical length measurements

Objectives: Fetal biometry is assessed at each ultrasound examination. Measurements are performed using standardized ultrasound planes and used for risk assessment in fetuses that are below or above cut-off values on reference charts and therefore at increased risk for abnormalities. We aimed to develop an integrated and automated tool that could help sonographers to control the quality of the measurement. Methods: An application for quality control of fetal biometry was developed. Quality control process was divided into three steps: (i) support is provided to help the sonographer chose the reference that best fit its practice, (ii) the sonographer can routinely and automatically check for the distribution of biometrics; (iii) Biometrical images are randomly selected to undergo external qualitative audit based on a scoring system. Results: We developed an application on a Web server and offer a service that will allow sonographers to better control the quality of their biometric examinations. We illustrate how the process goes on and how it can be implemented in any sonographic centres. Conclusion: We have developed a quality control software based on previously described statistical tools. It can now be implemented on sonographic systems. Besides potential for audit and quality control, it could also be useful during the process of training.