Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?

Objectives: To give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first-trimester screening and to investigate which of these abnormalities would be missed if cell-free fetal DNA (cfDNA) were used as a first-tier screening test for chromosomal abnormalities. Methods: This is a national study including 1901 pregnancies with NT≥95th percentile referred to seven university hospitals in the Netherlands between 1 January 2010 and 1 January 2016. All cases with unknown pregnancy outcome were excluded. Results of detailed ultrasound examinations, karyotyping, genotyping, pregnancy and neonatal outcomes, investigation by a clinical geneticist and post-mortem investigations were collected. Results: In total, 821 (43%) pregnancies had at least one abnormality. The rate of abnormalities was 21% for fetuses with NT between 95th and 99th percentile and 62% for fetuses with NT≥99th percentile. Prevalence of single-gene disorders, submicroscopic, chromosomal and structural abnormalities was 2%, 2%, 30% and 9%, respectively. Conclusion: Although cfDNA is superior to the combined test, especially for the detection of trisomy 21, 34% of the congenital abnormalities occurring in fetuses with increased NT may remain undetected in the first trimester of pregnancy, unless cfDNA is used in combination with fetal sonographic assessment, including NT measurement

Position-dependent obstructive sleep apnea and its influence on treatment success of mandibular advancement devices

© 2021, The Author(s), under exclusive licence to Springer Nature Switzerland AG.Purpose: Depending on the severity of pre-treatment obstructive sleep apnea (OSA) and the criteria used to define treatment success, the efficacy of mandibular advancement devices (MADs) ranges from 30 to 69%. Identifying suitable candidates is the key to increasing the efficacy of a MAD. Positive predictors include a low body mass index, a low apnea–hypopnea index (AHI), and low age. Another consideration is whether or not a patient’s OSA is position dependent. To evaluate the effect of such dependency on MAD treatment success, we studied the following: treatment success across the patient’s total AHI and in the supine and non-supine sleeping positions; the influence of pre-treatment position dependency on MAD treatment success; and the effect of MAD treatment on post-treatment shifts in position dependency. Methods: This is a single-center retrospective study of patients with OSA. Patients were diagnosed through an overnight polysomnography and treated with a MAD between February 2015 and January 2018. They were defined as being positional if the AHI in supine sleeping position was at least twice as high as in the non-supine position. Results: Complete treatment success was achieved in 32% of study population (n = 96) and partial success in 54%. Complete treatment success was significantly higher (p = 0.004) when a patient was sleeping in the non-supine position. Treatment success did not differ significantly between patients who were position dependent and those who were not. When treated with a MAD, patients did not spend significantly more time in supine position. Neither did we find any post-treatment shifts in position dependency. Conclusion: A MAD is an effective treatment modality that may significantly reduce the total AHI, supine, and non-supine AHI. Since position dependency has no impact on MAD treatment success, it does not determine whether or not a patient is a suitable candidate for MAD treatment

Daytime polysomnography to perform titration for upper airway stimulation in patients with obstructive sleep apnea

PURPOSE: Upper airway stimulation (UAS) is an innovative treatment for patients with obstructive sleep apnea (OSA). UAS titrations are performed 3 months after activation of the device to optimize its effectiveness. In general, these titrations are performed during an in-laboratory overnight polysomnography (PSG). However, overnight titrations are expensive and can be logistically challenging because they are labor-intensive which causes shortage of sleep technicians available for night shifts. In addition, recently, overnight PSGs were postponed and canceled due to the COVID-19 pandemic. We aimed to assess the feasibility of a daytime PSG to perform titration of UAS therapy as an alternative for a conventional overnight PSG. METHODS: We performed a prospective single-center observational cohort study. Patients were included when planned for UAS titration; this was approximately 6 months after UAS activation. Data on sleep architecture, patient experience, and respiratory outcomes were collected to evaluate the feasibility. An overnight follow-up PSG 12 months after implantation was used to compare sleep architecture and therapy response. RESULTS: Of 23 patients, four were excluded from analysis because of technical issues during PSG. Even though patients slept significantly shorter during the daytime PSG, this was enough time to complete the titration successfully with 30-min sleep in final therapeutic settings in 84% of the patients. Patients (94%) had a positive experience with the daytime titration. Respiratory outcomes were significantly reduced during titration and were maintained at the 12-month follow-up. CONCLUSION: Daytime titrations are a valuable alternative for conventional overnight titrations. Our findings suggest the implementation of daytime titrations as standard of care. This will contribute to easier logistics and better work circumstances for sleep technicians without jeopardizing titration quality

Evaluation of drug-induced sleep endoscopy as a tool for selecting patients with obstructive sleep apnea for maxillomandibular advancement

STUDY OBJECTIVES: (1) To investigate if drug-induced sleep endoscopy (DISE) findings are predictive of surgical response for patients undergoing maxillomandibular advancement (MMA) for obstructive sleep apnea (OSA) and (2) to investigate the predictive value of the jaw thrust maneuver during DISE in terms of surgical response to MMA. METHODS: A retrospective cohort study was conducted in patients with OSA who underwent a baseline polysomnography (PSG) and DISE followed by MMA and a 3- to 6-month follow-up PSG between September 1, 2011, and September 30, 2020. RESULTS: Sixty-four patients with OSA (50 males [78.1%]; mean ± SD age = 51.7 ± 9.5 years; mean ± SD apnea-hypopnea index = 49.0 ± 20.8 events/h) were included. Thirty-nine patients were responders, and 25 were nonresponders. Adjusting for baseline characteristics and surgical characteristics (eg, age, baseline apnea-hypopnea index, degree of maxillary advancement), patients with complete anteroposterior epiglottic collapse had 0.239 times lower odds for response to MMA (95% confidence interval, 0.059-0.979; P = .047). No significant relationship was found between complete concentric velum collapse and MMA response. There was no statistically significant association between effect of jaw thrust maneuver during DISE on upper airway patency and treatment outcome of MMA. CONCLUSIONS: This study indicates that DISE is a promising tool to identify patients who will or will not respond to MMA for treating OSA. Patients with complete anteroposterior epiglottic collapse may be less suitable candidates for MMA. CITATION: Zhou N, Ho J-PTF, de Vries N, Bosschieter PFN, Ravesloot MJL, de Lange J. Evaluation of drug-induced sleep endoscopy as a tool for selecting patients with obstructive sleep apnea for maxillomandibular advancement. J Clin Sleep Med. 2022;18(4):1073-1081

Evaluation of drug-induced sleep endoscopy as a tool for selecting patients with obstructive sleep apnea for maxillomandibular advancement

Study Objectives: (1) To investigate if drug-induced sleep endoscopy (DISE) findings are predictive of surgical response for patients undergoing maxillomandibular advancement (MMA) for obstructive sleep apnea (OSA) and (2) to investigate the predictive value of the jaw thrust maneuver during DISE in terms of surgical response to MMA. Methods: A retrospective cohort study was conducted in patients with OSA who underwent a baseline polysomnography (PSG) and DISE followed by MMA and a 3- to 6-month follow-up PSG between September 1, 2011, and September 30, 2020. Results: Sixty-four patients with OSA (50 males [78.1%]; mean ± SD age = 51.7 ± 9.5 years; mean ± SD apnea-hypopnea index = 49.0 ± 20.8 events/h) were included. Thirty-nine patients were responders, and 25 were nonresponders. Adjusting for baseline characteristics and surgical characteristics (eg, age, baseline apnea-hypopnea index, degree of maxillary advancement), patients with complete anteroposterior epiglottic collapse had 0.239 times lower odds for response to MMA (95% confidence interval, 0.059–0.979; P = .047). No significant relationship was found between complete concentric velum collapse and MMA response. There was no statistically significant association between effect of jaw thrust maneuver during DISE on upper airway patency and treatment outcome of MMA. Conclusions: This study indicates that DISE is a promising tool to identify patients who will or will not respond to MMA for treating OSA. Patients with complete anteroposterior epiglottic collapse may be less suitable candidates for MMA

Do dental parameters predict severity of obstructive sleep apnea and mandibular advancement device therapy outcomes? A pilot study

Background: Mandibular Advancement Devices (MAD's) are oral appliances commonly used in treatment of Obstructive Sleep Apnea (OSA). OSA severity and certain other factors, such as BMI and neck circumference, correlate with MAD therapy success. So far, the predictive value of dental parameters, such as dental profile, molar-classification, overjet, overbite, maximal retrusion, maximal protrusion and protrusive range, has not been fully investigated. Objectives: We aimed to investigate whether dental parameters influence OSA severity and MAD therapy outcome and could therefore be helpful in phenotyping OSA patients. Furthermore, we studied the predictive power of dental parameters for OSA severity and successful MAD therapy. We hypothesise that specific dental parameters correlate with more severe OSA and with more successful MAD treatment. Methods: We performed a cohort study, including OSA patients diagnosed by polysomnography (PSG). Dental parameters were collected. Objective treatment outcome was collected by performing a PSG with MAD after three months of therapy. Differences between OSA severity groups and MAD treatment outcomes were analysed and dental parameters were correlated between groups. Results: The relation between dental parameters and OSA severity was analysed in 143 patients, fifty patients had a PSG with MAD in situ after a 3-month therapy. The median baseline Apnea Hypopnea Index (AHI) significantly reduced from 17.6 (8.7–29.3) to 11.1 (5.5–17.5). Overbite and maximal retrusion differed significantly between mild, moderate and severe OSA. Other dental parameters did not differ significantly between the groups, nor correlated with OSA severity or MAD treatment outcome. Conclusion: In this study, no correlation between dental parameters and OSA severity or MAD treatment outcomes was found. Therefore, screening patients for OSA and MAD treatment outcome based on dental parameters is currently not possible

Do dental parameters predict severity of obstructive sleep apnea and mandibular advancement device therapy outcomes? A pilot study

Background: Mandibular Advancement Devices (MAD's) are oral appliances commonly used in treatment of Obstructive Sleep Apnea (OSA). OSA severity and certain other factors, such as BMI and neck circumference, correlate with MAD therapy success. So far, the predictive value of dental parameters, such as dental profile, molar-classification, overjet, overbite, maximal retrusion, maximal protrusion and protrusive range, has not been fully investigated. Objectives: We aimed to investigate whether dental parameters influence OSA severity and MAD therapy outcome and could therefore be helpful in phenotyping OSA patients. Furthermore, we studied the predictive power of dental parameters for OSA severity and successful MAD therapy. We hypothesise that specific dental parameters correlate with more severe OSA and with more successful MAD treatment. Methods: We performed a cohort study, including OSA patients diagnosed by polysomnography (PSG). Dental parameters were collected. Objective treatment outcome was collected by performing a PSG with MAD after three months of therapy. Differences between OSA severity groups and MAD treatment outcomes were analysed and dental parameters were correlated between groups. Results: The relation between dental parameters and OSA severity was analysed in 143 patients, fifty patients had a PSG with MAD in situ after a 3-month therapy. The median baseline Apnea Hypopnea Index (AHI) significantly reduced from 17.6 (8.7–29.3) to 11.1 (5.5–17.5). Overbite and maximal retrusion differed significantly between mild, moderate and severe OSA. Other dental parameters did not differ significantly between the groups, nor correlated with OSA severity or MAD treatment outcome. Conclusion: In this study, no correlation between dental parameters and OSA severity or MAD treatment outcomes was found. Therefore, screening patients for OSA and MAD treatment outcome based on dental parameters is currently not possible

Evaluation of drug-induced sleep endoscopy as a tool for selecting patients with obstructive sleep apnea for maxillomandibular advancement

Study Objectives: (1) To investigate if drug-induced sleep endoscopy (DISE) findings are predictive of surgical response for patients undergoing maxillomandibular advancement (MMA) for obstructive sleep apnea (OSA) and (2) to investigate the predictive value of the jaw thrust maneuver during DISE in terms of surgical response to MMA. Methods: A retrospective cohort study was conducted in patients with OSA who underwent a baseline polysomnography (PSG) and DISE followed by MMA and a 3- to 6-month follow-up PSG between September 1, 2011, and September 30, 2020. Results: Sixty-four patients with OSA (50 males [78.1%]; mean ± SD age = 51.7 ± 9.5 years; mean ± SD apnea-hypopnea index = 49.0 ± 20.8 events/h) were included. Thirty-nine patients were responders, and 25 were nonresponders. Adjusting for baseline characteristics and surgical characteristics (eg, age, baseline apnea-hypopnea index, degree of maxillary advancement), patients with complete anteroposterior epiglottic collapse had 0.239 times lower odds for response to MMA (95% confidence interval, 0.059–0.979; P = .047). No significant relationship was found between complete concentric velum collapse and MMA response. There was no statistically significant association between effect of jaw thrust maneuver during DISE on upper airway patency and treatment outcome of MMA. Conclusions: This study indicates that DISE is a promising tool to identify patients who will or will not respond to MMA for treating OSA. Patients with complete anteroposterior epiglottic collapse may be less suitable candidates for MMA