Newborn screening for congenital hypothyroidism

Most neonates born with congenital hypothyroidism (CH) have normal appearance and no detectable physical signs. Hypothyroidism in the newborn period is almost always overlooked and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Blood spot T4 or TSH or both can be used in neonatal screening for CH. The latter, which is more sensitive, is not cost effective, so the first two are used in different programs in the world. TSH screening was shown to be more specific in the diagnosis of CH; T4 screening is more sensitive in detecting newborns especially with rare hypothalamic-pituitary hypothyroidism, but less specific with a high frequency of false positives mainly in low birth weight and premature infants. The time at which the sample is taken may vary between centers, with the majority taking blood from a heel prick after 24 hours of age to minimize the false positive high TSH due to the physiological neonatal TSH surge that elevates TSH levels and causes dynamic T4 and T3 changes in the first 1 or 2 days after birth. Early discharge of mothers postpartum has increased the ratio of false positive TSH elevations. Although transient hypothyroidism may occur frequently, all suspected infants should be treated as having CH for the first 3 years of life, taking into account the risks of mental retardation. A reevaluation after 3 years is needed in such patients. The goal of initial therapy in CH is to minimize neonatal central nervous system exposure to hypothyroidism by normalizing thyroid function, as reflected by T4 and TSH levels, as rapidly as possible. Iodine deficiency is the most important cause of CH worldwide. Iodine is essential for thyroid hormone synthesis and is present in soil, water and air. Prevention of iodine deficiency can be by iodized salt, iodized oil, iodized bread or iodine tablets.     

Newborn care in rural Uttar Pradesh

Objectives To describe selected newborn care practices related to cord care, thermal care and breastfeeding in rural Uttar Pradesh and to identify socio-demographic, antenatal and delivery care factors that are associated with these practices. Methods A cross-sectional survey in rural Uttar Pradesh included 13, 167 women who had a livebirth at home during the two years preceding data collection. Logistic regression was used to identify socio-demographic, antenatal and delivery care factors that were associated with the three care practices. Results Use of antenatal care and skilled attendance at delivery were significantly associated with clean cord care and early breastfeeding, but not with thermal care. Antenatal home visits by a community-based worker were associated only with clean cord care. Women who received counseling from health workers or other sources on each of the newborn care practices during pregnancy were more likely to report the respective care practices, although levels of counseling were low. Conclusion The association between newborn care practices and antenatal care, counseling and skilled delivery attendance suggest that evidence-based newborn care practices can be promoted through improved coverage with existing health services.     

Anemia and undernutrition among preschool children in Uttar Pradesh, India

This study was conducted to assess the prevalence of anemia among preschool children (3-5 years) and its association with malnutrition in rural Barabanki district of Uttar Pradesh, India. Three out of 18 sub-centers in Nindura block, Barabanki, each with six villages, were randomly selected for this survey and 654 boys and 546 girls were included. Mean hemoglobin level in g/dL among boys and girls was 10.1 (SD: 1.66) and 9.9 (SD: 1.67) (P <0.06) respectively. The proportion of anemic children (Hb <11 g/dL) was 70%. Boys were heavier and taller as compared to girls. Among the 67.3% underweight children the mean hemoglobin level was 9.85 (SD: 1.67) as compared to 10.39 (SD: 1.62) in those without malnutrition (P <0.0001). Likewise, stunted children (87.6%) had statistically significantly lower mean hemoglobin levels than those not stunted. The odds ratio of an underweight and stunted child having moderate to severe anemia was 1.66. While more than half caretakers knew about the term "anemia " and associated physical weakness with it, only very few (2.5%) knew that iron intake will improve it. They relied on "doctors" (86.7%) for anemia prevention.     

Results of a pilot study of neonatal screening for congenital biotinidase deficiency

Biotinidase activity was determined in a pilot study of 78,000 dried blood samples on filter paper. In the assay the liberation of p-aminobenzoic-acid from biotinyl-p-aminobenzoic-acid by biotinidase is tested. One boy was identified to be with biotinidase deficiency. Transient reduction of biotinidase activity to virtually negative test results was observed in 8 preterm babies (recall: 0,01%). Specificity and sensitivity of the test were nearly 100%. We suggest that screening for biotinidase deficiency should be incorporated into existing neonatal screening programs for inborn errors of metabolism. This suggestion is based on the ease of testing, the necessity for presymptomatic laboratory diagnosis, and on the effectiveness of early treatment of the multiple carboxylase deficiency caused by defective biotinidase.     

Newborn screening in India

Expanded newborn screening (NBS) is aimed for early detection and intervention of treatable inborn errors of metabolism and also to establish incidence of these disorders in this part of the globe. The first expanded NBS programme initiated in the capital city of Andhra Pradesh to screen all the newborns born in four major Government Maternity Hospitals in Hyderabad by heel prick capillary blood collected on S&S 903 filter paper. Chromatographic (TLC and HPLC), electrophoretic (cellulose acetate and agarose) and ELISA based assays have been employed for screening of common inborn errors of metabolism. This study has shown a high prevalence of treatable Inborn errors of metabolism. Congenital hypothyroidsm is the most common disorder (1in1700) followed by congenital Adrenal Hyperplasia (1 in 2575) and Hyperhomocystenemia (1in100). Interestingly, a very high prevalence of inborn errors of metabolism to the extent of 1 in every thousand newborns was observed. The study reveals the importance of screening in India, necessitating nation wide large-scale screening.     

Neonatal screening for biotinidase deficiency in north eastern italy

Biotinidase deficiency satisfies all the criteria for incorporation into neonatal mass screening programmes for inborn errors of metabolism. We report our preliminary experiences with screening of 24300 newborns during a 6 monthperiod when 1 infant with biotinidase deficiency was detected. On the basis of these results, this disorder appears to be as common as other well known metabolic disorders for which mass screening is available.Abbreviation MCD multiple carboxylase deficiency     

Determinants of vitamin a deficiency amongst children in Aligarh district,Uttar Pradesh

Objectives  

To determine the prevalence and determinants of xerophthalmia among children aged 0–60 months.     

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??Congenital adrenal hyperplasia??CAH??is mainly caused by 21-hydroxylase deficiency??21-OHD??. Nationwide neonatal screening for CAH caused by 21-OHD in China is based on measurement of 17-hydroxyprogesterone ??17-OHP?? levels from heel-stick blood samples on filter paper. The situation and methods of neonatal screening??confirmed diagnosis and therapeutic rule for CAH in China and other countries are described for the standardization of screening.     

Neonatal screening for congenital hypothyroidism and phenylketonuria in China

Background  Neonatal screening is helpful to prevent serious disabitily and sufferings caused by congenital or inherited disease. This study was to review the status of neonatal screening for congenital hypothyroidism (CH) and phenylketonuria (PKU) in China. Methods  We analyzed data of neonatal screening for CH and PKU in the past two decades which were obtained from the national network of neonatal screening centers collected by the National Center for Clinical Laboratory. Results  Of 18.8 million newborns screened from 1985 to 2007, 9198 were identified with CH, giving a prevalence of 1/2047. In 19.0 million newborns screened in the same period, 1638 had PKU, with a prevalence of 1/11 572. An increasing number of neonates have been subjected to neonatal screening in China annually during this period. Data from Zhejiang Neonatal Screening Center showed that the recall rate of neonates suspected with CH and PKU was 95.52% in 2007. Confirmatory tests were performed and treatments were initiated in most of the neonates with CH and PKU within a month after birth. Conclusions  More governmental support at different levels is needed to make neonatal screening more efficient. The screening should be improved with a satisfactory control system including shorter time of report and a higher recall rate.