<strong>Objectives: </strong><span><span><span style="font-family:""><span style="font-family:Verdana;">This study aims to describe birth weight and its var...<strong>Objectives: </strong><span><span><span style="font-family:""><span style="font-family:Verdana;">This study aims to describe birth weight and its variations concerning maternal characteristics as well as to standardize birth weight curves for Qatari and expatriate’s newborn population born in the state of Qatar.</span><b><span style="font-family:Verdana;"> Methods: </span></b><span style="font-family:Verdana;">PEARL-Peristat registry is a National maternal-neonatal observation epidemiologic database project where both maternal and neonatal cohort data are collected to evaluate specified outcomes for a population defined by a disease, conditions, or exposures.</span><b><span style="font-family:Verdana;"> Results: </span></b><span style="font-family:Verdana;">Out of 50</span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">,</span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">535 singleton deliveries, only 44</span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">,</span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">178 live-born infants were included in this study. The LBW rate has remained constant since 2011 and was reported as 2.4% in males and 3.5% in females. The average total LBW was 3%. The lowest incidence of LBW was seen in maternal age between 30</span></span></span><span><span><span style="font-family:""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">-</span></span></span><span><span><span style="font-family:""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">45 years. There was a marginal increase in the incidence of LBW among mothers less than 20 years of age. The incidence of LBW among Qatari mothers was reported as 2.6%, 2.2%, and 2.4% in years 2011,</span></span></span><span><span><span style="font-family:""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">2012, 2017 respectively with a significant difference when compared to expatriates’ newborns particularly in the year 2017 (p-value < 0.001). Moreover, among Qatari newborns, there is a significant rise in the rate of LBW from 2011 to 2017, 2.9</span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">%</span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"> to 4.1% (p-value</span></span></span><span><span><span style="font-family:""> </span></span></span><span><span><span style="font-family:""><span style="font-family:Verdana;">≥ 0.007). The expatriate’s population received 69 % of all maternal hospital services offered in government hospitals.</span><b><span style="font-family:Verdana;"> Conclusion: </span></b><span style="font-family:Verdana;">The birth weight of newborns delivered in the state of Qatar is to a large extent consistent with the international birth weight figures for both Qatari and expatriate newborns delivered in Qatar. Low birth weight is increasing particularly among young mothers. The lowest rate of LBW was reported among mothers aged above 29 years old. Large for the date was observed among mothers older than 29 years of age.</span></span></span></span>展开更多
Background:Newborn screening is a precondition for early diagnosis and successful treatment of remethylation disorders and classical homocystinuria (cystathionine-β-synthase deficiency).Newborn screening for classica...Background:Newborn screening is a precondition for early diagnosis and successful treatment of remethylation disorders and classical homocystinuria (cystathionine-β-synthase deficiency).Newborn screening for classical homocystinuria using total homocysteine measurement in dried blood spots has been very successfully performed for many years for newborns from Qatar.Methods:A new optimized newborn screening strategy for remethylation disorders and homocystinuria was developed and evaluated for newborns from Qatar using total homocysteine measurement as first-tier and methionine,methionine-phenylalanine-ratio and propionylcarnitine as second-tiers.Proposed cnt-offs were also retrospectively evaluated in newborn screening samples of 12 patients with remethylation disorders and vitamin B12 deficiency from Qatar and Germany.Results:Over a 12 months period,the proposed strategy led to a decrease in the recall rate in homocysteine screening for Qatar from 1.09% to 0.68%,while allowing for additional systematic inclusion of remethylation disorders and vitamin B12 deficiency into the screening panel for Qatar.In the evaluated period the applied strategy would have detected all patients with classical homocystinuria identified by the previous strategy and in addition 5 children with maternal nutritional vitamin B12 deficiency and one patient with an isolated remethylation disorder.Additional retrospective evaluation of newborn screening samples of 12 patients from Germany and Qatar with remethlyation disorders or vitamin B12 deficiency showed that all of these patients would have been detected by the cutoffs used in the proposed new strategy.In addition,an adapted strategy for Germany using methionine,methionine-phenylalanine-ratio and propionylcarnitine as first-tier,and homocysteine as a second-tier test was also positively evaluated retrospectively.Conclusions:The proposed strategy for samples from Qatar allows inclusion of remethylation disorders and vitamin B12 deficiency in the screening panel,while lowering the recall rate.An adapted second-tier strategy is presented for screening in Germany and will be prospectively evaluated over the next years in a pilot project named 'Newborn Screening 2020'.展开更多
文摘<strong>Objectives: </strong><span><span><span style="font-family:""><span style="font-family:Verdana;">This study aims to describe birth weight and its variations concerning maternal characteristics as well as to standardize birth weight curves for Qatari and expatriate’s newborn population born in the state of Qatar.</span><b><span style="font-family:Verdana;"> Methods: </span></b><span style="font-family:Verdana;">PEARL-Peristat registry is a National maternal-neonatal observation epidemiologic database project where both maternal and neonatal cohort data are collected to evaluate specified outcomes for a population defined by a disease, conditions, or exposures.</span><b><span style="font-family:Verdana;"> Results: </span></b><span style="font-family:Verdana;">Out of 50</span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">,</span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">535 singleton deliveries, only 44</span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">,</span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">178 live-born infants were included in this study. The LBW rate has remained constant since 2011 and was reported as 2.4% in males and 3.5% in females. The average total LBW was 3%. The lowest incidence of LBW was seen in maternal age between 30</span></span></span><span><span><span style="font-family:""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">-</span></span></span><span><span><span style="font-family:""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">45 years. There was a marginal increase in the incidence of LBW among mothers less than 20 years of age. The incidence of LBW among Qatari mothers was reported as 2.6%, 2.2%, and 2.4% in years 2011,</span></span></span><span><span><span style="font-family:""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">2012, 2017 respectively with a significant difference when compared to expatriates’ newborns particularly in the year 2017 (p-value < 0.001). Moreover, among Qatari newborns, there is a significant rise in the rate of LBW from 2011 to 2017, 2.9</span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">%</span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"> to 4.1% (p-value</span></span></span><span><span><span style="font-family:""> </span></span></span><span><span><span style="font-family:""><span style="font-family:Verdana;">≥ 0.007). The expatriate’s population received 69 % of all maternal hospital services offered in government hospitals.</span><b><span style="font-family:Verdana;"> Conclusion: </span></b><span style="font-family:Verdana;">The birth weight of newborns delivered in the state of Qatar is to a large extent consistent with the international birth weight figures for both Qatari and expatriate newborns delivered in Qatar. Low birth weight is increasing particularly among young mothers. The lowest rate of LBW was reported among mothers aged above 29 years old. Large for the date was observed among mothers older than 29 years of age.</span></span></span></span>
文摘Background:Newborn screening is a precondition for early diagnosis and successful treatment of remethylation disorders and classical homocystinuria (cystathionine-β-synthase deficiency).Newborn screening for classical homocystinuria using total homocysteine measurement in dried blood spots has been very successfully performed for many years for newborns from Qatar.Methods:A new optimized newborn screening strategy for remethylation disorders and homocystinuria was developed and evaluated for newborns from Qatar using total homocysteine measurement as first-tier and methionine,methionine-phenylalanine-ratio and propionylcarnitine as second-tiers.Proposed cnt-offs were also retrospectively evaluated in newborn screening samples of 12 patients with remethylation disorders and vitamin B12 deficiency from Qatar and Germany.Results:Over a 12 months period,the proposed strategy led to a decrease in the recall rate in homocysteine screening for Qatar from 1.09% to 0.68%,while allowing for additional systematic inclusion of remethylation disorders and vitamin B12 deficiency into the screening panel for Qatar.In the evaluated period the applied strategy would have detected all patients with classical homocystinuria identified by the previous strategy and in addition 5 children with maternal nutritional vitamin B12 deficiency and one patient with an isolated remethylation disorder.Additional retrospective evaluation of newborn screening samples of 12 patients from Germany and Qatar with remethlyation disorders or vitamin B12 deficiency showed that all of these patients would have been detected by the cutoffs used in the proposed new strategy.In addition,an adapted strategy for Germany using methionine,methionine-phenylalanine-ratio and propionylcarnitine as first-tier,and homocysteine as a second-tier test was also positively evaluated retrospectively.Conclusions:The proposed strategy for samples from Qatar allows inclusion of remethylation disorders and vitamin B12 deficiency in the screening panel,while lowering the recall rate.An adapted second-tier strategy is presented for screening in Germany and will be prospectively evaluated over the next years in a pilot project named 'Newborn Screening 2020'.