Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies.

Understanding the underlying causes of congenital anomalies (CAs) can be a complex diagnostic journey. We aimed to assess the efficiency of exome sequencing (ES) and chromosomal microarray analysis (CMA) in patients with CAs among a population with a high fraction of consanguineous marriage. Depending on the patient's symptoms and family history, karyotype/Quantitative Fluorescence- Polymerase Chain Reaction (QF-PCR) (n = 84), CMA (n = 81), ES (n = 79) or combined CMA and ES (n = 24) were performed on 168 probands (66 prenatal and 102 postnatal) with CAs. Twelve (14.28%) probands were diagnosed by karyotype/QF-PCR and seven (8.64%) others were diagnosed by CMA. ES findings were conclusive in 39 (49.36%) families, and 61.90% of them were novel variants. Also, 64.28% of these variants were identified in genes that follow recessive inheritance in CAs. The diagnostic rate (DR) of ES was significantly higher than that of CMA in children from consanguineous families (P = 0·0001). The highest DR by CMA was obtained in the non-consanguineous postnatal subgroup and by ES in the consanguineous prenatal subgroup. In a population that is highly consanguineous, our results suggest that ES may have a higher diagnostic yield than CMA and should be considered as the first-tier test in the evaluation of patients with congenital anomalies.

Maternal and neonatal outcomes of abnormal placentation: a case-control study.

BACKGROUND: There is limited information on neonatal outcomes in complicated pregnancies with abnormal placentation. The aim of this study was to assess the neonatal outcomes of abnormal placentation. METHODS: In this case-control study, known cases of abnormal placentation between the years 2010 and 2017 were extracted. The case group consisted of pregnant women with abnormal placentation (172 cases), while controls were selected from repeated cesarean section cases with normal placentation (341 people). RESULTS: In the case group, 145 cases (84.3%) had placenta accreta, 12 cases (7.07%) had placenta increta and five cases (8.7%) had placenta percreta. Characteristics significantly more common in the case group included lower mean gestational age and average neonatal weight (p < .001), low birth weight (LBW) and small for gestational age (SGA) (p < .001), admission to the NICU (p < .001), higher average number of hospitalization days in the NICU (p < .05), lower average 5-minute Apgar scores (p < .001), neonatal seizure (p = .004), cranial hemorrhage (p = .037), anemia (p = .002) and thrombocytosis (p = .029). The occurrence of abnormal placentation was associated with some underlying maternal characteristics such as high maternal age (p = .34), lower maternal weight (p = .044), multiparity (p = .11), history of previous abortion (p = .036), and history of cesarean (p = .001). The prevalence of placenta previa was significantly higher in the case group (p < .001). CONCLUSION: The presence of placenta previa has a close relationship with abnormal placentation and is considered to be a potential risk factor for LBW, SGA, lower 5 minutes Apgar scores, first-day seizure, cranial hemorrhage, the necessity for NICU admission and occurrence of anemia and thrombocytosis in neonates.

Independent association between air pollutants and vitamin D deficiency in young children in Isfahan, Iran.

OBJECTIVES: To determine the association between air pollution and vitamin D status in young children living in a sunny region. METHODS: This cross-sectional study of 100 children aged 4-10 years in Isfahan was conducted during 2011-2012. This industrial city has an arid climate and is the second most air-polluted city in Iran. Children were selected by random cluster sampling from various areas with different levels of air pollution. The air quality index (AQI) was recorded and demographic variables, dietary habits and levels of physical activity were determined by validated questionnaires. Serum concentrations of 25-hydroxyvitamin D [25(OH)D], calcium, phosphate, alkaline phosphatase and parathyroid hormone were measured. The P for trend for median (interquartile range) of variables was assessed across the AQI quartiles. The associations between AQI and biochemical values were assessed by multiple linear regression after adjustment for age, gender, BMI, diet and pattern of physical activity. RESULTS: Ninety-seven children (46.4% boys) completed the study. The median (interquartile range, IQR) of serum 25(OH) D was 37.4 (22.5, 81.6) nmol/L. Median dietary vitamin D intake was 11.7 µg/day, i.e. 78% of the required daily amount. Vitamin D deficiency and insufficiency were detected in 37.9% and 46.3% of children, respectively. Median (IQR) exposure to ultraviolet B radiation in the AQI Quartile 4 area was significantly lower than in the Quartile 1 area [0.36 (0.35-0.38) watts per square metre (W/m(2)) vs 0.41 (0.39-0.44) W/m(2), respectively, P = 0.04]. Likewise, the corresponding figure for serum 25(OH)D was 35.2 (22.5-45.2) vs 52.7 (44.9-81.6) nmol/L, respectively, P = 0.04. AQI was inversely associated with serum 25(OH)D, which remained significant after adjustment for the above-mentioned confounding factors (ß = 0.61, P = 0.01). CONCLUSION: The independent inverse association of AQI with 25(OH)D explains the high prevalence of vitamin D deficiency in children in Isfahan. Dietary intake of vitamin D was not sufficiently low to explain the very low level of serum 25(OH)D. In regions with plenty of sunlight, air pollution should be considered to be a factor in the causation of hypovitaminosis D.