Prevalence of critical congenital heart defects and selected co-occurring congenital anomalies, 2014-2018: A U.S. population-based study.

BACKGROUND: Critical congenital heart defects (CCHDs) are one of the most common types of birth defects and can lead to significant morbidity and mortality along with surgical or catheter interventions within the first year of life. This report updates previously published estimates of CCHD prevalence with the latest population-based surveillance data from 19 birth defect surveillance programs. METHODS: The U.S. population-based surveillance programs submitted data on identified cases of 12 CCHDs and co-occurring cardiovascular and chromosomal birth defects from 2014 to 2018. We estimated prevalence by program type and maternal and infant characteristics. Among nine programs with active case ascertainment that collect more than live births, we estimated the percentage of co-occurring cardiovascular and chromosomal birth defects for the 12 CCHDs. RESULTS: We identified 18,587 cases of CCHD among all participating programs. Overall CCHD prevalence was 19.6 per 10,000 live births among all 19 programs and 20.2 per 10,000 live births among active programs. Among maternal racial/ethnic groups, infants/fetuses born to American Indian/Alaska Native mothers showed the highest overall prevalence for all CCHDs (28.3 per 10,000) along with eight of the 12 individual CCHDs. Among 7,726 infants/fetuses with CCHD from active case ascertainment programs, 15.8% had at least one co-occurring chromosomal birth defect. CONCLUSION: Our study provides prevalence estimates for CCHDs by maternal and infant characteristics along with co-occurrence with cardiovascular and chromosomal birth defects among infants/fetuses with CCHD using one of the largest and most recent cohorts since the implementation of widespread CCHD screening. These data can provide a basis for future research to better understand risk factors for these defects.

Treatment outcomes in poor metabolizers of cytochrome P450 2A6 with concurrent chemoradiotherapy in locally advanced head- and neck-squamous cell carcinoma.

Introduction: Human Cytochrome 2A6 (CYP2A6) is involved in the oxidative metabolism of the nicotine to the inactive cotinine. CYP2A6 is a primary enzyme in nicotine metabolism, the enzyme has been proposed as a novel target for smoking cessation. Materials and Methods: A total of 70 male patients of locally advanced head- and neck-squamous cell carcinoma confirmed by histopathological examination were enrolled in this study. All patients received concurrent chemoradiotherapy (total dose of 70 Gray in 35 fractions in 7 weeks with concurrent tablet capecitabine 1250 mg/m2/day). Response assessment was based on response evaluation criteria in solid tumor criteria. Total ribonucleic acid (RNA) was isolated from the whole blood of all patients by TRI REAGENT BD (SIGMA USA) followed by real-time polymerase chain reaction assay which was done in studying messenger RNA (mRNA) expression of Excision Repair Cross Complementation Group 1 in blood lymphocytes of patient. Results: The most common stage prevalent was Stage IV A in 28 (56%) patients followed by Stage III in 16 (32%) patients. Out of 70, 20 (28.6%) patients defaulted for treatment, so the analysis was done in 56 patients. A total of 19 (34%) patients had a complete response (CR) and 17 (30%) patients had no response. In all the patients who had CR, posttreatment relative quantification (RQ) expression levels were high. Among nonresponders only three had higher RQ folds and the rest 14 had lower RQ folds. Conclusion: Posttreatment expression levels of CYP2A6 were found to be a better predictor for tumor response to the treatment than the pretreatment expression levels. Almost all the patients having higher RQ folds had CR and those having lower RQ folds had either no response or progressive disease on follow-up visits.

National population-based estimates for major birth defects, 2010-2014.

BACKGROUND: Using the National Birth Defects Prevention Network (NBDPN) annual data report, U.S. national prevalence estimates for major birth defects are developed based on birth cohort 2010-2014. METHODS: Data from 39 U.S. population-based birth defects surveillance programs (16 active case-finding, 10 passive case-finding with case confirmation, and 13 passive without case confirmation) were used to calculate pooled prevalence estimates for major defects by case-finding approach. Fourteen active case-finding programs including at least live birth and stillbirth pregnancy outcomes monitoring approximately one million births annually were used to develop national prevalence estimates, adjusted for maternal race/ethnicity (for all conditions examined) and maternal age (trisomies and gastroschisis). These calculations used a similar methodology to the previous estimates to examine changes over time. RESULTS: The adjusted national birth prevalence estimates per 10,000 live births ranged from 0.62 for interrupted aortic arch to 16.87 for clubfoot, and 19.93 for the 12 critical congenital heart defects combined. While the birth prevalence of most birth defects studied remained relatively stable over 15 years, an increasing prevalence was observed for gastroschisis and Down syndrome. Additionally, the prevalence for atrioventricular septal defect, tetralogy of Fallot, omphalocele, and trisomy 18 increased in this period compared to the previous periods. Active case-finding programs generally had higher prevalence rates for most defects examined, most notably for anencephaly, anophthalmia/microphthalmia, trisomy 13, and trisomy 18. CONCLUSION: National estimates of birth defects prevalence provide data for monitoring trends and understanding the impact of these conditions. Increasing prevalence rates observed for selected conditions warrant further examination.

Value of diffusion MR imaging in differentiation of recurrent head and neck malignancies from post treatment changes.

PURPOSE: Role of diffusion-weighted (DW) MR imaging in differentiating residual or recurrent neck malignancies from postoperative/post-radiation changes with histopathological correlation and comparison with PET-CT. METHODS AND MATERIALS: Prospective observational study for a period of 1 year in 62 post-radiation/post-operative patients suspected to have residual/recurrent tumors of neck with lesion diameter more than 5 mm measured on MRI. RESULTS: Mean ADC for recurrent/residual tumors: 1.008 ±â€¯0.220 × 10-3 mm2/s - significantly lower than mean ADC value for post-treatment changes of 1.69 ±â€¯0.40 × 10-3 mm2/s (p < 0.0001). The overall diagnostic accuracy, positive predictive value (PPV) and negative predictive value (NPV) of the qualitative assessment for the use of DWI in differentiating tumors recurrence from post-treatment changes were 96.6%, 96% and 83.3%, respectively. Upon quantitative analysis of the DW imaging data, a threshold ADC value of 1.3 × 10-3 mm2/s used for differentiating between post-treatment changes and recurrent cancers showed the highest combined sensitivity of 94%, specificity of 83.3%, accuracy of 93.6%, positive predictive value of 95.9%, and negative predictive value of 83.3%. CONCLUSION: DW MRI is a promising non-invasive MRI technique used to differentiate recurrent/residual head and neck malignancies from posttreatment changes based on ADC values. DWI offers advantage as it has a short scanning time and can be safely added to standard MRI protocol with minimum patient discomfort. Complementary use of DWI and PET/CT imaging may increase diagnostic confidence for differentiating recurrent disease from radiation therapy-induced changes after 6-12 months in posttreatment cases.

Increasing Prevalence of Gastroschisis--14 States, 1995-2012.

Gastroschisis is a serious congenital defect in which the intestines protrude through an opening in the abdominal wall. Gastroschisis requires surgical repair soon after birth and is associated with an increased risk for medical complications and mortality during infancy. Reports from multiple surveillance systems worldwide have documented increasing prevalence of gastroschisis since the 1980s, particularly among younger mothers; however, since publication of a multistate U.S. report that included data through 2005, it is not known whether prevalence has continued to increase. Data on gastroschisis from 14 population-based state surveillance programs were pooled and analyzed to assess the average annual percent change (AAPC) in prevalence and to compare the prevalence during 2006-2012 with that during 1995-2005, stratified by maternal age and race/ethnicity. The pooled data included approximately 29% of U.S. births for the period 1995-2012. During 1995-2012, gastroschisis prevalence increased in every category of maternal age and race/ethnicity, and the AAPC ranged from 3.1% in non-Hispanic white (white) mothers aged <20 years to 7.9% in non-Hispanic black (black) mothers aged <20 years. These corresponded to overall percentage increases during 1995-2012 that ranged from 68% in white mothers aged <20 years to 263% in black mothers aged <20 years. Gastroschisis prevalence increased 30% between the two periods, from 3.6 per 10,000 births during 1995-2005 to 4.9 per 10,000 births during 2006-2012 (prevalence ratio = 1.3, 95% confidence interval [CI]: 1.3-1.4), with the largest increase among black mothers aged <20 years (prevalence ratio = 2.0, 95% CI: 1.6-2.5). Public health research is urgently needed to identify factors contributing to this increase.

Prevalence of birth defects among American-Indian births in California, 1983-2010.

BACKGROUND: Approximately 6.3 million live births and fetal deaths occurred during the ascertainment period in the California Birth Defects Monitoring Program registry. American-Indian and non-Hispanic white women delivered 40,268 and 2,044,118 births, respectively. While much information has been published about non-Hispanic white infants, little is known regarding the risks of birth defects among infants born to American-Indian women. METHODS: This study used data from the California Birth Defects Monitoring Program to explore risks of selected birth defects in offspring of American-Indian relative to non-Hispanic white women in California. The study population included all live births and fetal deaths 20 weeks or greater from 1983 to 2010. Prevalence ratios and corresponding 95% confidence intervals (CI) were computed using Poisson regression for 51 groupings of birth defects. RESULTS: Prevalence ratios were estimated for 51 groupings of birth defects. Of the 51, nine had statistically precise results ranging from 0.78 to 1.85. The eight groups with elevated risks for American-Indian births were reduction deformities of brain, anomalies of anterior segments, specified anomalies of ear, ostium secundum type atrial septal defect, specified anomalies of heart, anomalies of the aorta, anomalies of great veins, and cleft lip with cleft palate. CONCLUSION: Our results suggest that American-Indian women having babies in California may be at higher risk for eight birth defect phenotypes compared with non-Hispanic whites. Further research is needed to determine whether these risks are observed among other populations of American-Indian women or when adjusted for potential covariates.

Prevalence of overt and subclinical thyroid dysfunction among pregnant women and its effect on maternal and fetal outcome.

AIM: To determine the current prevalence of thyroid dysfunction in normal pregnant women and to study the impact of thyroid dysfunction on maternal and fetal outcome. METHODS: 400 pregnant women between 13 and 26 weeks of gestation were registered for the study. Apart from routine obstetrical investigations, TSH tests were done. Free T4 and anti-TPO antibody tests were done in patients with deranged TSH. Patients were followed up till delivery. Their obstetrical and perinatal outcomes were noted. RESULTS: The prevalence of hypothyroidism and hyperthyroidism was 12 and 1.25 %, respectively. Adverse maternal effects in overt hypothyroidism included preeclampsia (16.6 vs. 7.8 %) and placental abruption (16.6 vs. 0.8 %). Subclinical hypothyroidism was associated with preeclampsia (22.3 vs. 7.8 %) as compared to the euthyroid patients. Adverse fetal outcomes in overt hypothyroidism included spontaneous abortion (16.6 vs. 2.39 %), preterm birth (33.3 vs. 5.8 %), low birth weight (50 vs. 12.11 %), intrauterine growth retardation (25 vs. 4.9 %), and fetal death (16.6 vs. 1.7 %) as compared to the euthyroid women. Adverse fetal outcomes in subclinical hypothyroidism included spontaneous abortion (5.5 vs. 2.39 %), preterm delivery (11.2 vs. 5.8 %), low birth weight (25 vs. 12.11 %), and intrauterine growth retardation (8.4 vs. 4.9 %) as compared to the euthyroid women. CONCLUSIONS: The prevalence of thyroid disorders was high in our study with associated adverse maternal and fetal outcomes. Routine screening of thyroid dysfunction is recommended to prevent adverse fetal and maternal outcome.

Bjornstad syndrome.

A 9-month-old boy presented with the complaints of loose motion, vomiting and difficulty in breathing. His scalp hairs were thin, brittle, and sparse and were of differing lengths with twisted appearance. Hair shaft microscopy revealed alternate light and dark segments and twisting of the hair shafts by 180 degrees along the axis. Serum copper levels were normal. The audiological testing revealed bilateral sensorineural hearing loss. Child was diagnosed as a case of Bjornstad Syndrome.