Comparative analysis of ultrasonographic fetal lung texture in twin and singleton fetuses.

OBJECTIVES: Increased fetal lung heterogeneity has been associated with term fetal lungs in singleton gestations. The objective of this study was to determine if fetal lung heterogeneity index (HI) differs between twin and singleton fetuses in the late second and third trimesters. METHODS: Prospective cohort study of women with singleton and twin gestations with medically-indicated ultrasound examinations at 24 weeks of gestation onward. Grayscale transverse fetal lung images were obtained at the level of the four-chamber heart. A region of interest was selected in each fetal lung image. Fetal lung HI was determined with MATLAB software using a dithering technique with ultrasound image pixels transformed into a binary map form from which a dynamic range value was determined. HI averages and standard deviations were generated for twin and singleton fetuses from 24 weeks gestation onward. Two sample t-tests were used to compare the mean HI at each gestational week between singleton and twin fetuses. RESULTS: In total, 388 singleton and 478 twin images were analyzed. From 35 through 38 weeks of gestation a statistically significant divergence in mean HI was observed with higher means in singleton compared to twin fetuses. At 24 weeks of gestation there was a significantly higher HI in twin fetuses compared to singletons. No differences in fetal lung HI were observed between 25 and 34 weeks gestational age. CONCLUSIONS: Differences in fetal lung HI were observed when comparing twin and singleton fetuses. Further investigation is required to determine the potential clinical significance of these findings.

Presence and Size of Placental Lakes on 20-Week Fetal Anatomy Ultrasound and Obstetrical Outcomes.

Our objective was to determine if placental lake presence or size is associated with adverse pregnancy outcomes. This was a retrospective cohort of patients who had fetal anatomy ultrasounds at 18-22 weeks and delivered between 2018 and 2022. Placental lakes were classified as small (>2.0 to 3.9 cm) or large (≥4 cm). Multiple gestations, placenta previas, and placenta accretas were excluded. Outcomes included low birthweight, cesarean delivery, primary cesarean for non-reassuring fetal heart tracing, fetal growth restriction, preterm birth, and severe preeclampsia. A total of 1052 patients were included; 294 had placental lakes (204 small, 90 large). No differences in pregnancy outcomes were observed.

Preterm prelabor rupture of membranes in singletons: maternal and neonatal outcomes.

OBJECTIVES: To determine the effect of gestational age at delivery on maternal and neonatal outcomes in preterm prelabor rupture of membranes (PPROM) and assess various predictors of neonatal and infant mortality in these pregnancies. METHODS: United States birth data from CDC-National Center for Health Statistics natality database for years 2004-2008 was used to identify singleton pregnancies with PPROM and delivery from 32 0/7 to 36 6/7 weeks. Controls were singletons at 37-40 weeks, without PPROM. Maternal and neonatal complications reported by all states were analyzed along with neonatal outcomes such as chorioamnionitis and hyaline membrane disease, reported by a subgroup of states. OR (95% CI) were calculated after adjusting for preeclampsia, diabetes, chronic hypertension, maternal race, and infant sex. RESULTS: There were 134,502 PPROM cases and similar number of controls. There was a significant decrease in need for prolonged ventilation, hyaline membrane disease, 5 min Apgar score <7, and NICU admission with advancing gestational age. Placental abruption decreased and chorioamnionitis and cord prolapse were not different between 34 and 37 weeks. We found reductions in early death, neonatal death, and infant mortality with advancing gestational age (p<0.001 for each). Gestational age at delivery was the strongest predictor for early death, neonatal death, and infant mortality in PPROM. These differences persisted after adjusting for antenatal steroid use. CONCLUSIONS: We provide population-based evidence showing a decrease in neonatal complications and death with advancing gestational age in PPROM. Gestational age at delivery in pregnancies with PPROM is the strongest predictor of mortality risk.

Risk Factors for Hearing Loss in Patients with Cystic Fibrosis.

BACKGROUND: Patients with cystic fibrosis (CF) are at increased risk for sensorineural hearing loss (SNHL) due, at least in part, to the ototoxic side effects of routine CF therapies. However, the prevalence of SNHL and additional factors contributing to the development of SNHL are unknown. PURPOSE: To identify risk factors associated with the development of SNHL in a large cohort of CF patients who had been referred for audiometric testing. RESEARCH DESIGN: A retrospective study of audiometric results and medication information in a cohort of patients with CF. STUDY SAMPLE: Records of 178 CF patients seen at Boston Children's Hospital for audiometric testing from 2007 to 2010 were reviewed. Mean age of patients was 18 yr (standard deviation = 10 yr), and 98 (55%) of the patients were female. DATA COLLECTION AND ANALYSIS: Audiometric results, medications, and hospitalizations were recorded. Multivariable logistic regression was used to evaluate the association between SNHL and the number of hospitalizations and chronic antibiotic use in the year prior to the patients' audiometry. RESULTS: In this sample, 37/178 (21%) patients had SNHL. Twenty-nine (78%) of the 37 patients had bilateral SNHL and 8 (22%) had unilateral SNHL. Across all age groups, the majority of patients had a bilateral hearing loss (HL). A multivariable model showed that older age and more frequent hospitalizations were associated with SNHL. The number of courses of chronic antibiotics in the year prior to audiometric testing was not correlated with rate of HL. CONCLUSIONS: This study suggests that age and frequency of hospitalizations are key predictors of HL development. Increased awareness and regular screening for SNHL should be included in the routine care of CF patients, particularly those at the highest risk.

Behavior and Sensory Interests Questionnaire: Validation in a sample of children with autism spectrum disorder and other developmental disability.

Repetitive behaviors, restricted interests and other unusual sensory behaviors often significantly impact the lives of many individuals with developmental disabilities, including Autism Spectrum Disorder (ASD). Identifying specific patterns of atypical behaviors across different disorders allows for improved specificity of diagnoses, monitoring response to treatment and elucidating the genetic and neurobiological underpinnings of these disorders. The Behavior and Sensory Interests Questionnaire (BSIQ) is a newly designed, continuous dimensional instrument that comprehensively assesses the type, frequency, intensity, age of onset, and duration of these behaviors. The BSIQ takes 15-40 min to administer to a caregiver in an interview format. Using a large sample of children with either ASD, intellectual disabilities or who were typically developing, the construct validity of the BSIQ was confirmed using a series of multi-group confirmatory factor analysis models. Configural and metric invariance were satisfied, but not scalar invariance, as expected. The BSIQ showed acceptable internal consistency, excellent inter-rater reliability and excellent test-retest reliability.

The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.

BACKGROUND: Deletion of the recurrent ~600 kb BP4-BP5 chromosomal region 16p11.2 has been associated with a wide range of neurodevelopmental outcomes. METHODS: To clarify the phenotype of 16p11.2 deletion, we examined the psychiatric and developmental presentation of predominantly clinically referred individuals, with a particular emphasis on broader autism phenotype characteristics in individuals with recurrent ~600 kb chromosome 16p11.2 deletions. Using an extensive standardized assessment battery across three clinical sites, 85 individuals with the 16p11.2 deletion and 153 familial control subjects were evaluated for symptom presentation and clinical diagnosis. RESULTS: Individuals with the 16p11.2 deletion presented with a high frequency of psychiatric and developmental disorders (>90%). The most commonly diagnosed conditions were developmental coordination disorder, phonologic processing disorder, expressive and receptive language disorders (71% of individuals >3 years old with a speech and language-related disorder), and autism spectrum disorder. Individuals with the 16p11.2 deletion not meeting diagnostic criteria for autism spectrum disorder had a significantly higher prevalence of autism-related characteristics compared with the familial noncarrier control group. Individuals with the 16p11.2 deletion had a range of intellectual ability, but IQ scores were 26 points lower than noncarrier family members on average. CONCLUSIONS: Clinically referred individuals with the 16p11.2 deletion have high rates of psychiatric and developmental disorders and provide a genetically well-defined group to study the emergence of developmental difficulties, particularly associated with the broader autism phenotype.