[A new way of performing hysterectomy: natural orifice transluminal endoscopic surgery]. / Nieuwe manier om baarmoeder te verwijderen.

Natural orifice transluminal endoscopic surgery (NOTES) is a minimally invasive surgical technique that uses the natural orifices of the human body such as the vagina (vNOTES) in order to access the abdominal cavity. Currently, the vNOTES hysterectomy technique is carried out on benign indication such as dysfunctional blood loss, uterine myomatosis or adenomyosis. During surgery, the surgeon and the assistant are able to operate in a better ergonomic position than at a total laparoscopic or vaginal hysterectomy. In addition, they have a better view of the anatomical structures in the operative field and therefore fewer peroperative complications occur. The vNOTES hysterectomy procedure has been carried out at the Zuyderland Medical Centre, Heerlen, the Netherlands, since August 2019 to the satisfaction of both patients and surgeons.

Motives and considerations regarding PGT in couples carrying a structural chromosomal abnormality: a qualitative exploration.

PURPOSE: This study aims to describe the motives and considerations of couples carrying a structural chromosomal abnormality deciding on preimplantation genetic testing (PGT). METHODS: A qualitative exploratory study was conducted using semi-structured dyadic interviews with 13 couples (N = 26) carrying a structural chromosomal abnormality. All couples had an informative consultation in our PGT centre in the Netherlands. RESULTS: Almost all couples considered PGT or natural conception combined with prenatal diagnosis (PND) as the only two reproductive options. Among several considerations mentioned, the majority indicated that the wish to increase the chance of a successful pregnancy was the most important motive to opt for PGT. All couples who opted for PGT had first tried to conceive spontaneously and entered the PGT programme because of their adverse experiences during these attempts (infertility, recurrent miscarriage, termination of pregnancy, birth of an affected child). Couples that refrained from PGT were of advanced maternal age and expressed the long trajectory of PGT as the main reason to refrain. If conceiving spontaneously would not lead to an ongoing pregnancy, these couples also indicated that they would use PGT. CONCLUSION: This study shows that couples carrying a structural chromosomal abnormality consider PGT and spontaneous conception with PND as relevant reproductive options. They are looking for the option that is in their opinion the fastest way to establish a successful pregnancy. Information on the perceived pros and cons of PGT or spontaneous conception in these couples can help to optimize counselling and psychological support during the decision-making process.

Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD.

STUDY QUESTION: Do clinical characteristics of recurrent miscarriage couples with a chromosomal abnormality and who opt for PGD differ from couples that decline PGD after extensive genetic counselling? SUMMARY ANSWER: No differences in clinical characteristics are identified between recurrent miscarriage couples carrying a structural chromosomal abnormality who opt for PGD compared with those that decline PGD after extensive genetic counselling. WHAT IS KNOWN ALREADY: Couples who have experienced two or more miscarriages (recurrent miscarriage) are at increased recurrence risk if one of the partners carries a structural chromosomal abnormality. PGD can be offered to avoid (another) miscarriage or pregnancy termination when (invasive) prenatal diagnosis shows an abnormal result. To date, no reports are available that describe reproductive decision-making after genetic counselling on PGD in these specific couples. STUDY DESIGN, SIZE, DURATION: Retrospective cohort study of 294 couples carrying a structural chromosomal abnormality seeking genetic counselling on PGD between 1996 and 2012. PARTICIPANTS/MATERIALS, SETTING, METHODS: Participants were recurrent miscarriage couples carrying a structural chromosomal abnormality. They had been referred for genetic counselling to the only national licensed PGD centre. Clinical characteristics analysed included couple associated characteristics, characteristics concerning reproductive history and external characteristics such as type of physician that referred the couple for genetic counselling and the clinical geneticist performing the counselling on PGD. MAIN RESULTS AND THE ROLE OF CHANCE: Of 294 couples referred for counselling on PGD, 26 were not accepted because they did not meet the criteria for IVF-PGD. The remaining cohort of 268 couples consisted of two-thirds female and one-third male carriers. Main PGD indications were reciprocal translocations (83.9%) and Robertsonian translocations (16.7%). Following genetic counselling, 76.9% of included couples chose PGD as their reproductive option, the others declined PGD. Reproductive choice is not influenced by sex of the translocation carrier (P = 0.499), type of chromosomal abnormality (P = 0.346), number of previous miscarriages (P = 0.882), history of termination of pregnancy (TOP) because of an unbalanced fetal karyotype (P = 0.800), referring physician (P = 0.208) or geneticist who performed the counselling (P = 0.410). LIMITATIONS, REASONS FOR CAUTION: This study only included recurrent miscarriage couples carrying a structural chromosomal abnormality, who were actually referred to a PGD clinic for genetic counselling. We lack information on couples who were not referred for PGD. Some of these patients may not have been informed on PGD at all, while others were not referred for counselling because they did not opt for PGD to start with. WIDER IMPLICATIONS OF THE FINDINGS: This study shows that reproductive choices in couples with recurrent miscarriage on the basis of a structural chromosomal abnormality are not influenced by characteristics of the couple itself, nor by their obstetric history or external characteristics. These findings suggest that a couples' intrinsic attitude towards PGD treatment is a major factor influencing their reproductive choice. Future research will focus on these personal motives that seem to push reproductive decision-making following genetic counselling in a given direction.

"Pitch" accent in alaryngeal speech.

Highly proficient alaryngeal speakers are known to convey prosody successfully. The present study investigated whether alaryngeal speakers not selected on grounds of proficiency were able to convey pitch accent (a pitch accent is realized on the word that is in focus, cf. Bolinger, 1958). The participating speakers (10 tracheoesophageal, 9 esophageal, and 10 laryngeal [control] speakers) produced sentences in which accent was cued by the preceding context. For each utterance, a group of listeners identified which word conveyed accent. All speakers were able to convey accent. Acoustic analyses showed that some alaryngeal speakers had little or no control over fundamental frequency. Contrary to expectation, these speakers did not compensate by using nonmelodic cues, whereas speakers using F0 did use nonmelodic cues. Thus, temporal and intensity cues are concomitant with the use of F0; if F0 is affected, these nonmelodic cues will be as well. A pitch perception experiment confirmed that alaryngeal speakers who had no control over F0 and who did not use nonmelodic cues were nevertheless able to produce pitch movements. Speakers with no control over F0 apparently relied on an alternative pitch system to convey accents and other pitch movements.

Some spectral correlates of pathological breathy and rough voice quality for different types of vowel fragments.

This study deals with the relation between listeners' ratings of pathological breathiness and roughness and certain characteristics of the voice spectrum. Two general research questions were addressed: First, which spectral parameters may serve as useful predictors of breathiness and roughness? Second, does the type of speech fragment used for analysis have an effect on the obtained regression model? Listener ratings of breathiness and roughness were obtained for three types of vowel fragments: a vowel onset segment, a mid-vowel (post-onset) segment, and a vowel segment covering the onset and the acoustically more stable post-onset parts. Results indicated that the harmonics-to-noise ratio was the best single predictor of both rated breathiness and roughness, explaining up to 54% of the true rating variance. By combining different predictors, between 75% and 80% of the breathiness variance could be explained for all three types of fragments. For roughness, a strong effect of fragment type was observed, with most variance explained in vowel onset fragments (71%), and least in post-onset fragments (52%). The effect of fragment type was also observed when regression analyses were performed with six predictors based on a factor analysis of the acoustic data.

Consistency and reliability of voice quality ratings for different types of speech fragments.

This study describes a perception experiment in which listeners were asked to rate voice fragments obtained from a variety of speakers on grade, breathiness, and roughness. Four different types of stimuli were presented to each listener. One type of stimulus was based on connected speech fragments; the other three were based on different segments of a sustained vowel, yielding a 200 msec vowel onset stimulus, a 200 msec post-onset stimulus, and a 1000 msec whole vowel stimulus. Analyses focused on the consistency and reliability of grade, roughness, and breathiness ratings. Results indicated that stimulus type had virtually no effect on either within- or between-listener consistency of the grade, breathiness, or roughness ratings. Rating reliability too was hardly influenced by stimulus type. When determined as a function of the overall degree of deviance of a voice, the reliability of breathiness and roughness ratings was slightly higher for whole vowel and vowel onset stimuli than for connected speech and post-onset stimuli. It is concluded that connected speech stimuli are not necessarily to be preferred over vowel-type stimuli for a perceptual evaluation of grade, roughness, or breathiness. The somewhat higher reliability of ratings on vowel onset and whole vowel stimuli as compared to the post-onset stimuli is taken as an indication that the onset part of a vowel may contain voice quality cues that are less salient in the most stable part of a vowel.

A cepstrum-based technique for determining a harmonics-to-noise ratio in speech signals.

A new method to calculate a spectral harmonics-to-noise ratio (HNR) in speech signals is presented. The method involves discrimination between harmonic and noise energy in the magnitude spectrum by means of a comb-liftering operation in the cepstrum domain. Sensitivity of HNR to (a) additive noise and (b) jitter was tested with synthetic vowel-like signals, generated at 10 fundamental frequencies. All jitter and noise signals were analyzed at three window lengths in order to investigate the effect of the length of the analysis frame on the estimated HNR values. Results of a multiple linear regression analysis with noise or jitter, F0, and window length as predictors for HNR indicate a major effect of both noise and jitter on HNR, in that HNR decreases almost linearly with increasing noise levels or increasing jitter. The influence of F0 and window length on HNR is small for the jittered signals, but HNR increases considerably with increasing F0 or window length for the noise signals. We conclude that the method seems to be a valid technique for determining the amount of spectral noise, because it is almost linearly sensitive to both noise and jitter for a large part of the noise or jitter continuum. The strong negative relation between HNR and jitter illustrates that spectral noise measures cannot simply be taken as indicators of the actual amount of noise in the time signal. Instead, HNR integrates several aspects of the acoustic stability of the signal. As such, HNR may be a useful parameter in the analysis of voice quality, although it cannot be directly interpreted in terms of underlying glottal events or perceptual characteristics.