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Congenital anomalies (CAs) are a leading cause of morbidity and mortality in early life. We aimed to assess the incidence, risk factors, and outcomes of major CAs in the State of Qatar. A population-based retrospective data analysis of registry data retrieved from the Perinatal Neonatal Outcomes Research Study in the Arabian Gulf (PEARL-Peristat Study) between April 2017 and March 2018. The sample included 25,204 newborn records, which were audited between April 2017 and March 2018, of which 25,073 live births were identified and included in the study. Maternal risk factors and neonatal outcomes were assessed for association with specific CAs, including chromosomal/genetic, central nervous system (CNS), cardiovascular system (CVS), facial, renal, multiple congenital anomalies (MCAs) using univariate and multivariate analyses. The incidence of any CA among live births was 1.3% (n = 332). The most common CAs were CVS (n = 117; 35%), MCAs (n = 69, 21%), chromosomal/genetic (51; 15%), renal (n = 39; 12%), CNS (n = 20; 6%), facial (14, 4%), and other (GIT, Resp, Urogenital, Skeletal) (n = 22, 7%) anomalies. Multivariable regression analysis showed that multiple pregnancies, parity ≥ 1, maternal BMI, and demographic factors (mother’s age and ethnicity, and infant’s gender) were associated with various specific CAs. In-hospital mortality rate due to CAs was estimated to be 15.4%. CAs were significantly associated with high rates of caesarean deliveries (aOR 1.51; 95% CI 1.04–2.19), Apgar

Background Intrahepatic cholestasis of pregnancy (ICP) is a complex liver disease with varying incidence worldwide. We compared ICP incidence and pregnancy outcomes with outcomes for normal pregnant controls. Methods We conducted a retrospective data analysis of perinatal registry data for the years 2011 and 2017 to compare the following outcome measures: stillbirths, labour induction, gestational diabetes, pre-eclampsia, antepartum haemorrhage, postpartum haemorrhage, preterm births, low Apgar score, acute neonatal respiratory morbidity, meconium aspiration and in-hospital neonatal death. Results The incidence of ICP was 8 per 1000 births from a total 31,493 singleton births with more cases in 2017 than in 2011. Women with ICP were almost six times more likely to have labour induced including significantly more moderate preterm births (defined as between 32 weeks and 36 weeks and 6 days of gestation)) seen more in 2011 than in 2017. Conclusion Women with ICP showed higher incidence of moderate preterm birth and induced labour but favourable maternal and neonatal outcomes.

We aimed to study the maternal characteristics and obstetric and neonatal outcomes in pregnant mothers with pre-eclampsia (PE) compared to normotensive.This was a population-based retrospective data analysis. Data were obtained from the PEARL-Peristat Study perinatal registry (Perinatal Neonatal Outcomes Research Study in the Arabian Gulf) Qatar. The birth periods ranged from January to December 2017 in the main Women's Hospital (now named Women's Wellness Research Center) and March to December 2017 in other hospitals. This study examined 19762 singleton births at 24 weeks of gestation and above. This analysis included only 19,194 births with complete data in the registry database at the time of this analysis, divided into normotensive women (The prevalence of hypertensive disorders among the 19,762 singleton pregnancies was 1027/19,762 (5.1%). The incidence of pre-eclampsia was 459/19,762 (2.3%) while gestational (341/19,762 (1.7%) and chronic hypertension 219/19,762 (1.1%)). A history of PE or eclampsia in past pregnancies was reported in 12.9% vs 0.9%Women with pre-eclampsia when compared to the normotensive women, they are older, nulliparous, diabetic and obese with an increased risk of preterm birth and cesarean deliveries. It was noted that PE was significantly associated with acute maternal morbidity, still births, cesarean section and preterm births. By taking preventive measures, prompt delivery and appropriate care we can reduce the risks associated with it or prolong the pregnancy to a gestational period which is considered safe for the neonatal survival. Therefore it's imperative to be aware of the population-based risk factors and its mode of presentation in order to give a timely appropriate care and to prevent severe maternal and fetal morbidities and mortalities.

Objectives To examine the impact of early term caesarean section (CS) on respiratory morbidity and early neonatal outcomes when elective caesarean section was carried out before 39 completed weeks gestation in our population. Methods A one-year population-based retrospective cohort analysis using routinely collected hospital data. Livebirths from women who had elective lower segment cesarean section (ELSCS) for uncomplicated singleton pregnancies at early term (ET) 37+0 to 38+6 weeks were compared to full term (FT)≥39+0 weeks gestation. Exclusion criteria included diabetes, antenatal corticosteroid use, stillbirths, immediate neonatal deaths, normal vaginal deliveries and emergency caesareans sections. The outcomes were combined respiratory morbidity (tachypnea [TTN] and respiratory distress syndrome [RDS]), Apgar Results Out of a total of 1,466 elective CS with term livebirths, the timing of CS was early term (ET) n=758 (52%) and full term (FT) n=708 (48%). There was a higher incidence of respiratory morbidities and neonatal outcomes in the ET in comparison to FT newborns. In the univariable analysis, significant risks for outcomes were: the need for oxygen support OR 2.42 (95% C.I. 1.38–4.22), respiratory distress syndrome and/or transient tachypnea of newborn (RDSF/TTN) OR 2.44 (95% C.I. 1.33–4.47) and neonatal intensive care unit (NICU) admission OR 1.91 (95% C.I. 1.22–2.98). Only the need for oxygen support remained (OR 1.81, 95% C.I. 1.0–3.26) in the multivariable analysis. These results were observed within the context of a significantly higher proportion of older, multiparous, and higher number of previous caesarean sections in the early term CS group. Conclusions There is a significant risk of respiratory morbidities in infants born by elective cesarean section prior to full term gestation. Obstetricians should aim towards reducing the high rate of women with previous multiple cesarean sections including balancing the obstetric indication of early delivery among such women with the evident risk of neonatal respiratory morbidity.

Preterm birth (PTB) and early term birth (ETB) are associated with high risks of perinatal mortality and morbidity. While extreme to very PTBs have been extensively studied, studies on infants born at later stages of pregnancy, particularly late PTBs and ETBs, are lacking. In this study, we aimed to assess the incidence, risk factors, and feto-maternal outcomes of PTB and ETB births in Qatar. We examined 15,865 singleton live births using 12-month retrospective registry data from the PEARL-Peristat Study. PTB and ETB incidence rates were 8.8% and 33.7%, respectively. PTB and ETB in-hospital mortality rates were 16.9% and 0.2%, respectively. Advanced maternal age, pre-gestational diabetes mellitus (PGDM), assisted pregnancies, and preterm history independently predicted both PTB and ETB, whereas chromosomal and congenital abnormalities were found to be independent predictors of PTB but not ETB. All groups of PTB and ETB were significantly associated with low birth weight (LBW), large for gestational age (LGA) births, caesarean delivery, and neonatal intensive care unit (NICU)/or death of neonate in labor room (LR)/operation theatre (OT). On the other hand, all or some groups of PTB were significantly associated with small for gestational age (SGA) births, Apgar &lt, 7 at 1 and 5 minutes and in-hospital mortality. The findings of this study may serve as a basis for taking better clinical decisions with accurate assessment of risk factors, complications, and predictions of PTB and ETB.

Background Qatar is a sovereign state in the Middle East. Our Neonatal Intensive care unit in Woman’s Wellness and Research Center(WWRC) is one of the largest Tertiary units in the Middle East with 20,000 deliveries per year and 4000 NICU admissions annually. Discharge process of preterm infants is a very complex issue that starts from the time of admission to discharge and follow-up post discharge. Preterm babies experience a much higher rate of hospital readmissions and death during the first year after birth compared with healthy term infants. Discharge plan should be individualized to address both parent and infant needs. Careful preparation for discharge and good follow-up arrangement after discharge may reduce these risks. Comprehensive discharge planning includes assessment of the neonate’s readiness for discharge and preparedness of families to care of their infant at home. Objectives Applying the concept of Family centered care increasingly offers families opportunity to participate in caregiving and decision making throughout their hospital stay, gradually building their confidence and competence. We aimed to improve the family participation in discharge process and reduce the percentage of cases being discharged post 4 hours from decision of discharge from 49%(our base line preintervention) to less than 20% in 12–18 months and reduce the readmission(in Methods A task force was formed to develop a comprehensive discharge readiness checklist. Discharge checklist contained various components to tick and sign by a team member/parent starting from 2 weeks prior to discharge till the day of discharge. It was reviewed daily during the ward rounds. As per the checklist parents were educated about medications, basic life support training, warning signs and symptoms of illness etc. This checklist was continuously audited with PDSA cycles and interventions introduced to correct the problems resulting in delayed/incomplete discharges. Parents were given a discharge folder that included all teaching handouts, medication sheets, growth charts, supplies, follow-up appointments with confirmed dates, relevant phone contacts and a copy of the discharge summary. Results We achieved >95% compliance with the discharge process checklist and a reduction in delayed discharges from 49% to 2%. we also achieved zero readmission rates Conclusions Discharge process requires a multi-disciplinary approach. Development of a comprehensive discharge planning toolkit facilitated the discharge process. This tool kit also enabled us in early identification of chronic cases nearing discharge. We recommend that NICU should form a discharge facilitation task force and develop a discharge checklist/toolkit according to their available resources. This will not only facilitate timely discharges but also has a positive impact on staff and parental satisfaction, bed occupancy rates, cost savings, and better patient flow. We believe this process makes parents a stakeholder in the care of the baby. We will be happy for any unit to contact us for further information and guidance.

Objectives A recent discussion surrounding the extension of antenatal corticosteroid (ACS) use beyond 34 weeks of gestation did not include the subgroup of infants of diabetic mothers (IDM). We aimed to examine the association between ACS exposure and outcomes in neonates born at term and at near-term gestation in a large cohort of IDMs. Methods We selected 13976 eligible near-term and term infants who were included in the PEARL-Peristat Perinatal Registry Study (PPS). We assessed the association of ACS exposure with neonatal outcomes in a multivariate regression model that controlled for diabetes mellitus (DM) and other perinatal variables. Results The incidence of DM was 28% (3,895 of 13,976) in the cohort. Caesarean section was performed in one-third of the study population. The incidence of ACS exposure was low (1.8%) and typically occurred>2 weeks before delivery. The incidence rates of respiratory distress syndrome (RDS)/ transient tachypnoea of newborns (TTN), all-cause neonatal intensive care unit (NICU) admissions, NICU admissions for hypoglycaemia, and low 5-min Apgar scores were 3.5, 8.8, 1.3, and 0.1%, respectively. In a multivariate regression model, ACS was associated with a slight increase in NICU admissions (OR: 1.44; 95% CI: 1.04–2.03; p=0.028), but not with RDS/TTN. Conclusions Although the low exposure rate was a limitation, ACS administration did not reduce respiratory morbidity in near-term or term IDMs. It was independently associated with an increase in NICU admissions. Randomized controlled trials are required to assess the efficacy and safety of ACS administration in diabetic mothers at late gestation.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder generally manifesting in the first few years of life and tending to persist into adolescence and adulthood. It is characterized by deficits in communication and social interaction and restricted, repetitive patterns of behavior, interests, and activities. It is a disorder with multifactorial etiology. In this chapter, we will focus on the most important and common epidemiological studies, pathogenesis, screening, and diagnostic tools along with an explication of genetic testing in ASD.

Background Abnormal fetal growth can be associated with factors during pregnancy and at postpartum. Objective In this study, we aimed to assess the incidence, risk factors, and feto-maternal outcomes associated with small-for-gestational age (SGA) and large-for-gestational age (LGA) infants. Methods We performed a population-based retrospective study on 14,641 singleton live births registered in the PEARL-Peristat Study between April 2017 and March 2018 in Qatar. We estimated the incidence and examined the risk factors and outcomes using univariate and multivariate analysis. Results SGA and LGA incidence rates were 6.0% and 15.6%, respectively. In-hospital mortality among SGA and LGA infants was 2.5% and 0.3%, respectively, while for NICU admission or death in labor room and operation theatre was 28.9% and 14.9% respectively. Preterm babies were more likely to be born SGA (aRR, 2.31; 95% CI, 1.45–3.57) but male infants (aRR, 0.57; 95% CI, 0.4–0.81), those born to parous (aRR 0.66; 95% CI, 0.45–0.93), or overweight (aRR, 0.64; 95% CI, 0.42–0.97) mothers were less likely to be born SGA. On the other hand, males (aRR, 1.82; 95% CI, 1.49–2.19), infants born to parous mothers (aRR 2.16; 95% CI, 1.63–2.82), or to mothers with gestational diabetes mellitus (aRR 1.36; 95% CI, 1.11–1.66), or pre-gestational diabetes mellitus (aRR 2.58; 95% CI, 1.8–3.47) were significantly more likely to be LGA. SGA infants were at high risk of in-hospital mortality (aRR, 226.56; 95% CI, 3.47–318.22), neonatal intensive care unit admission or death in labor room or operation theatre (aRR, 2.14 (1.36–3.22). Conclusion Monitoring should be coordinated to alleviate the risks of inappropriate fetal growth and the associated adverse consequences.

Urea cycle disorders (UCDs) still have a poor prognosis despite several therapeutic advancements. As liver transplantation can provide a cure, liver cell therapy (LCT) might be a new therapeutic option in these patients. Twelve patients with severe UCDs were included in this prospective clinical trial. Patients received up to six infusions of cryopreserved human heterologous liver cells via a surgically placed catheter in the portal vein. Portal vein pressure, portal vein flow, and vital signs were monitored continuously. Calcineurin inhibitors and steroids were used for immunosuppression. In four patients, ureagenesis was determined with stable isotopes. Number and severity of hyperammonemic events and side effects of immunosuppression were analyzed during an observation period of up to 2 years. No study-related mortality was observed. The application catheter dislocated in two children. No significant side effects of catheter application or cell infusion were noted in the other ten patients. The overall incidence of infections did not differ significantly from a historical control group, and no specific side effects of immunosuppression were found. Seven patients were treated per protocol and could be analyzed for efficacy. Severe metabolic crises could be prevented in all of these patients, moderate crises in four of seven. Ureagenesis increased after cell infusion in all patients investigated. We found a favorable safety profile with respect to catheter placement, intraportal liver cell infusion, and immunosuppression. More than half of the children treated per protocol experienced metabolic stabilization and could be safely bridged to liver transplantation.

Newborn screening is a precondition for early diagnosis and successful treatment of remethylation disorders and classical homocystinuria (cystathionine-s-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. 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 cut-offs were also retrospectively evaluated in newborn screening samples of 12 patients with remethylation disorders and vitamin B12 deficiency from Qatar and Germany. 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 cut-offs 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. 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”.

Background We aimed to study the maternal characteristics and obstetric and neonatal outcomes in pregnant mothers with chronic hypertension (CHTN) compared to non-CHTN. Methods The study was a population-based cohort study, and a PEARL-Peristat Study (PPS) for the year of 2017. There were 20,210 total births including 19,762 singleton and 448 multiple births. We excluded multiple gestations from the analysis as they differ in fetal growth, duration of gestation and have a higher rate of obstetric and neonatal complications. We compared the maternal characteristics of mothers with pre-existing HTN with non-hypertensive mothers and studied the obstetric and neonatal outcomes including cesarean section, stillbirths, prematurity, macrosomia and postpartum hemorrhage (PPH). Results We identified 223 births of mothers with essential HTN. The overall prevalence of CHTN in our population was 1.1% (223/20,210). In regard to maternal characteristics, women with CHTN were at or above 35 years of age at the time of delivery 58.9% compared to non-CHTN women 18.7%, P-value0.001. Pre-existing diabetes was found more in women with CHTN 15.1% compared to non-CHTN women 1.9%, P-value0.001; while obesity was found in 64% of women with CHTN compared to 32.5% in non-CHTN women, P-value0.001. Preterm birth was noted in 26% compared to 8% in CHTN compared to non-CHTN women, respectively, P-value0.001. The rate of stillbirth was similar between the two groups, 0.9% compared to 0.6% in CHTN compared to non-CHTN women, respectively, P-value 0.369. Conclusion Hypertensive mothers have multiple other comorbidities. When compared to the general population, they are older, parous, diabetic and obese with an increased risk of preterm birth and cesarean deliveries. Lifestyle modification, extensive pre-conceptional counseling and multidisciplinary antenatal care are required for such a high-risk group.

Classical homocystinuria (HCU) is the most common inborn error of metabolism in Qatar, with an incidence of 1:1800, and is caused by the Qatari founder p.R336C mutation in the CBS gene. This study describes the natural history and clinical manifestations of HCU in the Qatari population. A single center study was performed between 2016 and 2017 in 126 Qatari patients, from 82 families. Detailed clinical and biochemical data were collected, and Stanford-Binet intelligence, quality of life and adherence to treatment assessments were conducted prospectively. Patients were assigned to one of three groups, according to the mode of diagnosis: (a) late diagnosis group (LDG), (b) family screening group (FSG), and (c) newborn screening group (NSG). Of the 126 patients, 69 (55%) were in the LDG, 44 (35%) in the NSG, and 13 (10%) in the FSG. The leading factors for diagnosis in the LDG were ocular manifestations (49%), neurological manifestations (45%), thromboembolic events (4%), and hyperactivity and behavioral changes (1%). Both FSG and NSG groups were asymptomatic at time of diagnosis. NSG had significantly higher intelligence quotient, quality of life, and adherence values compared with the LDG. The LDG and FSG had significantly higher methionine levels than the NSG. The LDG also had significantly higher total homocysteine levels than the NSG and FSG. Regression analysis confirmed these results even when adjusting for age at diagnosis, current age, or adherence. These findings increase the understanding of the natural history of HCU and highlight the importance of early diagnosis and treatment. SYNOPSIS: A study in 126 Qatari patients with HCU, including biochemical, clinical, and other key assessments, reveals that patients with a late clinical diagnosis have a poorer outcome, hereby highlighting the importance of early diagnosis and treatment.

Retinopathy of prematurity (ROP) is a blinding morbidity affecting preterm infants. It currently represents the leading preventable cause of childhood blindness worldwide. Most data indicate an increasing incidence of ROP disease in both industrialized countries and in the developing world. There are neither symptoms of ROP nor can a specific visual behavior in a preterm infant herald a concern for ROP. Hence, an effective screening is essential for prompt diagnosis of ROP. The available evidence suggests that the majority of premature infants who go blind from ROP do so due to screening failure. Timely screening of premature infants at risk is as important as early treatment in the management of ROP. The screening protocol at each neonatal intensive care unit (NICU) should be evidence-based, should be based on preferences of neonatologists, ophthalmologists, and NICU nurses. All at-risk infants should be identified and receive adequate dilated retinal examinations at appropriate times. Appropriate screening and follow-up guidelines and timely treatment protocols need to be implemented in every NICU by pediatricians and ophthalmologists to reduce the ROP-related blindness in the community. The ultimate goals of treatment of ROP are prevention of retinal detachment or scarring and optimization of visual outcome. The standard treatment involves ablation of peripheral avascular retina preferably by indirect retinal laser photocoagulation when the ROP progresses to a stage which needs intervention since vascular endothelial growth factors (VEGF) are known to play a major role in ROP pathogenesis and its progression, injection of anti-VEGF drugs intravitreally has been found to be effective in arresting the ROP disease process. This newer emerging pharmacotherapeutic option has the potential to improve treatment outcomes.

Aspartylglucosaminuria is a rare autosomal recessive lysosomal storage disorder leading early to a progressive intellectual disability. Monozygous Qatari twins presented with an unusual perinatal manifestation characterized by severe muscular hypotonia, scarce spontaneous movements, multiple contractures, and respiratory insufficiency. Biochemical investigations suggested aspartylglucosaminuria, and a novel homozygous mutation c.439T>C (p.S147P) was found in the aspartylglucosaminidase gene. However, it cannot be excluded that the unusual neonatal presentation is due to an additional autosomal recessive disease in this multiply consanguineous family. The classical aspartylglucosaminuria phenotype (progressive speech delay, psychomotor retardation, and behavioral abnormalities) was observed in 3 Turkish siblings. Although aspartylglucosaminuria was suspected early, the definite diagnosis was not confirmed until the age of 18 years. A novel homozygous mutation c.346C>T (p.R116W) was found. These 5 cases emphasize that aspartylglucosaminuria is panethnic and may possibly present with prenatal manifestation. Screening for aspartylglucosaminuria should be done in all patients with unexplained psychomotor retardation.

Newborn screening is a precondition for early diagnosis and successful treatment of remethylation disorders and classical homocystinuria (cystathionine-ß-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.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 cut-offs were also retrospectively evaluated in newborn screening samples of 12 patients with remethylation disorders and vitamin BOver 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 BThe proposed strategy for samples from Qatar allows inclusion of remethylation disorders and vitamin B

Background: In classical homocystinuria (HCU, MIM# 236200) due to the deficiency of cystathionine β-synthase (EC 4.2.1.22) there is a clear evidence for the success of early treatment. The aim of this study was to develop and evaluate a two-tier strategy for HCU newborn screening.

Objective: To prospectively ascertain Qatar's national Neonatal Mortality Rate (NMR), Early Neonatal Mortality Rate (ENMR), and Late Neonatal Mortality Rate (LNMR) during 2011, compare it with recent data from high-income countries, and analyze trends in Qatar's NMR's between 1975 and 2011 using historic data. Study Design: A National prospective cohort-study. Materials and Methods: National data on live births and neonatal mortality was collected from all public and private maternity facilities in Qatar (1 st January-December 31 st 2011) and compared with historical neonatal mortality data (1975-2010) ascertained from the database of maternity and neonatal units of Women's Hospital and annual reports of Hamad Medical Corporation. For inter country comparison, country data of 2009 was extracted from World Health Statistics 2011 (WHO) and the European Perinatal Health report (2008). Results: A total of 20583 live births were recorded during the study period. Qatar's national NMR during 2011 was 4.95, ENMR 2.7, LNMR 2.2, and cNMR 3.33. Between 1975 and 2011, Qatar's population increased by 10-fold, number of deliveries by 7.2 folds while relative risk of NMR decreased by 87% (RR 0.13, 95% CI 0.10-0.18, P>0.001), ENMR by 91% (RR 0.09, 95% CI 0.06-0.12, P

In classical homocystinuria (HCU, MIM# 236200) due to the deficiency of cystathionine β-synthase (EC 4.2.1.22) there is a clear evidence for the success of early treatment. The aim of this study was to develop and evaluate a two-tier strategy for HCU newborn screening.We reevaluated data from our newborn screening programme for Qatar in a total number of 125,047 neonates including 30 confirmed HCU patients. Our hitherto existing screening strategy includes homocysteine (Hcy) measurements in every child, resulting in a unique dataset for evaluation of two-tier strategies. Reevaluation included methionine (Met) levels, Met to phenylalanine (Phe) ratio, and Hcy. Four HCU cases identified after database closure were also included in the evaluation. In addition, dried blood spot samples selected by Met valuesP97 in the newborn screening programs in Austria, Australia, the Netherlands, and Taiwan were analyzed for Hcy.Met to Phe ratio was found to be more effective for first sieve than Met, sorting out nearly 90% of normal samples. Only 10% of the samples would have to be processed by second-tier measurement of Hcy in dried blood spots. As no patient with HCU was found neither in the samples investigated for HCU, nor by clinical diagnosis in the other countries, the generalization of our two-tier strategy could only be tested indirectly.The finally derived two-tier algorithm using Met to Phe ratio as first- and Hcy as second-tier requires 10% first-tier positives to be transferred to Hcy measurement, resulting in 100% sensitivity and specificity in HCU newborn screening.

Severe protein C (PC) deficiency is a rare disorder caused by homozygous or compound heterozygous genetic anomalies. PC deficiency is inherited as autosomal dominant, and most patients are heterozygous for a genetic defect. Homozygous or compound heterozygous for a mutation or other genetic defect affecting PC is typically due to inheritance of an abnormal allele from both parents. In the neonatal period, homozygous PC deficiency is usually associated with the development of severe, and often fatal, purpura fulminans and disseminated intravascular coagulation and if untreated is incompatible with life. Here, we report a case of congenital PC deficiency due to novel homozygous mutation in the protein coding gene (PROC) in a term neonate which presented with severe purpura fulminans, perinatal right renal vein thrombosis (RVT), bilateral adrenal hemorrhage, and early neonatal central retinal venous occlusion with retinal detachment. Perinatal RVT and early neonatal central retinal vein occlusion have not been reported previously in the literature.

Background: An early discharge from postnatal policy has been practiced at Women's Hospital, Hamad Medical Corporation. Aim: This observational cohort study was conducted to evaluate the effect of early postnatal discharge practice on neonatal morbidity in the State of Qatar. Setting and Design: This is a data-based cohort study. All neonates ≤28 days visiting the Pediatric Emergency Centers (PEC) were evaluated for the need for re-hospitalization, referral for clinic appointments, or observation at the PEC setting. Materials and Methods: Differences in outcome rates were compared in neonates who visited in the first 24 hours postnatal discharge (2-3 days of life) and those who visited after the third day of life. Statistical Analysis: Crude differences in incidence rate assessed by χ2 or Fisher exact test were applicable. Results: Of 3528 PEC visits for 1915 neonates, 1.7% required admission (3.1% of neonates), 8.4% were observed, 1.1% were referred to a clinic, and the remaining were discharged home. There was no significant difference in re-hospitalization rates of neonates visiting PEC in the first 3 days and those visiting at a later age (OR 0.78, 95% CL 0.19-3.23, P=1). However, early presentations to PEC was more likely to result in periods of observation (OR 1.88, 95% CL 1.17-3.04, P=0.01), or clinic referral (OR 4.96, 95% CL 2.16-11.38, P=0.001) when compared to older neonates. Moreover, those who presented early were significantly more likely to revisit any of the PECs with in the 28 days period (OR 3.20, 95% CL 2.17-4.97, P

Background and Objectives: Neonatal mortality, a component of United Nations Millennium Development Goal 4 (MDG-4) (two thirds reduction in childhood mortality by 2015), has been a focus of all global health improvement strategies and plans of action since 1990. Our study aims to prospectively ascertain Qatar's neonatal mortality rate (NMR) during 2011, analyze trends between 1975 and 2011, and compare with recent data from high income countries. Methods: A PEARL study (perinatal neonatal outcomes research study in the Arabian Gulf), a joint collaborative research project between Hamad Medical Corporation (HMC), Qatar and University of Gloucestershire, United Kingdom, is Qatar's prospective national perinatal epidemiologic study funded by Qatar National Research Fund. The study quantifies maternal, neonatal and perinatal mortality, morbidities and their correlates by establishing a national neonatal perinatal registry for Qatar called Q-Peri-Reg. Data on live births and neonatal mortality was collected from all public and private maternity facilities in Qatar during 2011 and compared with historical neonatal mortality data (1975-2011) ascertained from the database of maternity and neonatal units of the Women's Hospital and annual reports of HMC. Inter-country comparisons were made using World Health statistics 2011 and the European perinatal health report 2008. Results: Total live births during the study period were 20,583 and neonatal deaths 102. NMR was 4.9, early neonatal mortality rate (ENMR) 2.7, late neonatal mortality rate (LNMR) 2.2 and corrected neonatal mortality rate (cNMR) 3.26. Between 1975 and 2011, relative risk of NMR decreased by 87% (RR 0.13, 95% CI 0.10-0.18, p

Background and Objectives: The State of Qatar has achieved maternal, neonatal and perinatal survival rates which are comparable to many high income countries, both from the West and East. Our study aims to analyze sociodemographic, economic and cultural determinants of Qatar's neonatal mortality rate (NMR) during 2011. Methodology: PEARL study (Perinatal Neonatal Outcomes Research Study in the Arabian Gulf), a joint collaborative research project between Hamad Medical Corporation (HMC), Qatar, and University of Gloucestershire, United Kingdom, is Qatar's prospective national perinatal epidemiological study funded by Qatar National Research Fund. The study is quantifying maternal, neonatal and perinatal mortality, morbidities and their correlates by establishing a national neonatal perinatal registry for Qatar called Q-Peri-Reg. Data on live births and neonatal mortality was collected from all public and private maternity facilities in Qatar during 2011. Data on sociodemographic, economic and cultural determinants was ascertained by direct interviews from the mothers using predesigned performas. Univariate and multivariate regression analysis was done using Epi Info and SPSS-20. Results: Qatar's NMR during 2011 was 4.9. Babies born to mothers with no or less than secondary level of education were twice at risk of death as compared to mothers with secondary or more level of education (RR 2.08, 95% CI 1.23-3.53, p= 0.009). The rate of maternal literacy was 90%. Nationality, gender, consanguinity, maternal occupation, family income and status, type and ownership of housing did not have any statistically significant correlation with the risk of neonatal mortality (Table1). Conclusion: High level of maternal literacy in Qatar appears to have contributed significantly to its improved neonatal survival rates. The outcome is independent of nationality, gender, social, economic and living status which supports the notion of an equitable health system in Qatar.

Background and Objective: The State of Qatar has achieved maternal, neonatal and perinatal survival rates which are comparable to many high income countries, both from the West and East. Our study aims to analyze fetal and perinatal determinants of Qatar's neonatal mortality rate (NMR) during 2011. Methodology: A PEARL Study (Perinatal Neonatal Outcomes Research Study in the Arabian Gulf), a joint collaborative research project between Hamad Medical Corporation (HMC) Qatar and University of Gloucestershire United Kingdom, is Qatar's prospective national perinatal epidemiological Study funded by Qatar National Research Fund. The study is quantifying maternal, neonatal and perinatal mortality, morbidities and their correlates by establishing a national neonatal perinatal registry for Qatar called Q-Peri-Reg. Data on live births and neonatal mortality were collected from all public and private maternity facilities in Qatar during 2011. Data on fetal and perinatal determinants was ascertained from maternal obstetric and delivery room record on predesigned performas. Univariate and multivariate regression analysis was done using Epi Info and SPSS-20. Results: Qatar's NMR during 2011 was 4.9. The incidence of low birth weight in Qatar is 11% and the incidence of preterm deliveries 10.7%. 10% of the babies required delivery room resuscitation. The relative risk of neonatal mortality was higher and statistically significant with fetal growth (p

Background and Objectives: Perinatal mortality, a combination of stillbirths and early neonatal mortality (day 0-6 of life), is a very strong indicator to assess healthcare during the perinatal period. Our study aims to prospectively determine Qatar's perinatal mortality rate (PMR) during 2011, analyze trends from 1990 to 2011 and compare the findings with recent data from selected high income countries. Methods: A PEARL study (perinatal neonatal outcomes research study in the Arabian Gulf), a joint collaborative research project between Hamad Medical Corporation, Qatar and the University of Gloucestershire, United Kingdom, is a prospective national perinatal epidemiologic study funded by Qatar National Research Fund. The study aims at quantifying maternal, neonatal and perinatal mortality, morbidities and their correlates by establishing a national neonatal perinatal registry for Qatar called Q-Peri-Reg. The data on live births, stillbirths and early neonatal mortality were collected from all public and private maternity units in Qatar during 2011 and compared with Qatar's historic perinatal mortality data (1990-2010) ascertained from maternity and neonatal unit databases of the Women's Hospital and annual reports of HMC. We used ICD-10 definitions both for reporting and comparison with selected high income countries (data from World Health Statistics 2011 and European Perinatal Health Report 2008). Results: The total births during the study period were 20,725 (live births 20,583 and 142 stillbirths) and perinatal deaths 198 (fetal deaths 142 and early neonatal deaths 56) giving a PMR of 9.55, ENMR 2.7 and SBR of 6.85 for reporting and 4.76 for international comparison. The trend of risk ratio (RR) between 1990 and 2011 was significantly down (p= 0.016). This significant improvement in PMR (RR 0.72, 95% CI 0.58-0.89, p= 0.002) since 1990 (13.2) was more marked in ENMR (p

Background and Objectives: The State of Qatar has achieved maternal, neonatal and perinatal survival rates which are comparable to many high income countries, both from the West and East. Our study aims to analyze obstetric determinants of Qatar's neonatal mortality rate (NMR) during 2011. Methodology: A PEARL study (Perinatal Neonatal Outcomes Research Study in the Arabian Gulf), a joint collaborative research project between Hamad Medical Corporation (HMC), Qatar, and University of Gloucestershire, United Kingdom, is Qatar's prospective national perinatal epidemiological study funded by Qatar National Research Fund. The study is quantifying maternal, neonatal and perinatal mortality, morbidities and their correlates by establishing a national neonatal perinatal registry for Qatar called Q-Peri-Reg. Data on live births and neonatal mortality was collected from all public and private maternity facilities in Qatar during 2011. Data on obstetric determinants was ascertained from maternal obstetric record on predesigned performas. Univariate and multivariate regression analysis was done using Epi Info and SPSS-20. Results: Qatar's NMR during 2011 was 4.9. The relative risk of neonatal mortality was higher and statistically significant with caesarean section delivery (p= 0.003), emergency caesarean section (p

Background and Objectives: The millennium development goals (MDG 5) mandate a three quarters reduction in maternal mortality ratio (MMR) by 2015. Hence, universal access to reproductive health and improvement in maternal survival remains the prime focus of all global health strategies and plans of action. Our study aims to analyze Qatar's performance in achieving MDG 5 by 2011. Methodology: A PEARL study (perinatal neonatal outcomes research study in the Arabian Gulf) is Qatar's prospective national perinatal epidemiologic study funded by Qatar National Research Fund. The study is a joint collaborative research project between Hamad Medical Corporation, Qatar and the University of Gloucestershire, United Kingdom. The project is establishing Qatar's national neonatal perinatal registry called Q-Peri-Reg which will quantify maternal, neonatal and perinatal outcomes and their correlates. Data on maternal health indicators and mortality was collected from all public and private maternity facilities during 2011. Results: During 2011, the total deliveries were 20,314 (normal vaginal 15,076 (74.22%) and caesarean sections 5238 (25.78%). 99.45% of deliveries were attended by a trained birth attendant in a maternity facility while 0.55% (n= 114) took place out of hospital. 100% of the mothers had made at least one antenatal visit. The total births were 20,725 (20,583 live births and 142 stillbirths). 100% of the births were examined by a pediatrician and entered in a national birth register. Qatar's MMR was 9.85 (n 2) as compared to global MMR of 260, Australia 8, UK 12 and USA 24. Conclusion: Qatar has achieved its target MDG 5 well before 2015. Qatar's 2011 MMR is comparable to most high income countries. Qatar's reproductive health system provides a unique model to study the correlates and associations of maternal survival which can form the basis of global health systems improvement strategies.

In this retrospective study we did a comparative analysis of the outcome of 28(+1) to 32(+0) weeks gestation babies between the State of Qatar and some high income countries with an objective of providing an evidence base for improving the survival of preterm neonates in low income countries. Data covering a five year period (2002-2006) was ascertained on a pre-designed Performa. A comparative analysis with the most recent data from VON, NICHD, UK, France and Europe was undertaken. Qatar's 28(+1) to 32(+0) weeks Prematurity Rate (9.23 per 1,000 births) was less than the UK's (p0.0001). Of the 597 babies born at 28(+1) to 32(+0) weeks of gestation, 37.5% did not require any respiratory support, while 31.1% required only CPAP therapy. 80.12% of the MV and 96.28% of CPAP therapy was required for96 hours. 86.1% of the mothers had received antenatal steroids. The 28(+1) to 32(+0) weeks mortality rate was 65.3/1,000 births with 30.77% deaths attributable to a range of lethal congenital and chromosomal anomalies. The survival rate increased with increasing gestational age (p0.001) and was comparable to some high income countries. The incidence of in hospital pre discharge morbidities in Qatar (CLD 2.68%, IVH Grade III 0.84%, IVH Grade IV 0.5%, Cystic PVL 0.5%) was less as compared to some high income countries except ROP/= Stage 3 (5.69%), which was higher in Qatar. The incidence of symptomatic PDA, NEC and severe ROP decreased with increasing gestational age (p0.05). We conclude that the mortality and in hospital pre discharge morbidity outcome of 28(+1) to 32(+0) weeks babies in Qatar are comparable with some high income countries. In two thirds of this group of preterm babies, the immediate postnatal respiratory distress can be effectively managed by using two facility based cost effective interventions; antenatal steroids and postnatal CPAP. This finding is very supportive to the efforts of international perinatal health care planners in designing facility-based cost effective options for low income countries.

To analyze and compare the current gestational age specific neonatal survival rates between Qatar and international benchmarks.An analytical comparative study.Women's Hospital, Hamad Medical Corporation, Doha, Qatar, from 2003-2008.Six year's (2003-2008) gestational age specific neonatal mortality data was stratified for each completed week of gestation at birth from 24 weeks till term. The data from World Health Statistics by WHO (2010), Vermont Oxford Network (VON, 2007) and National Statistics United Kingdom (2006) were used as international benchmarks for comparative analysis.A total of 82,002 babies were born during the study period. Qatar's neonatal mortality rate (NMR) dropped from 6/1000 in 2003 to 4.3/1000 in 2008 (p0.05). The overall and gestational age specific neonatal mortality rates of Qatar were comparable with international benchmarks. The survival of27 weeks and term babies was better in Qatar (p=0.01 and p0.001 respectively) as compared to VON. The survival of32 weeks babies was better in UK (p=0.01) as compared to Qatar. The relative risk (RR) of death decreased with increasing gestational age (p0.0001). Preterm babies (45%) followed by lethal chromosomal and congenital anomalies (26.5%) were the two leading causes of neonatal deaths in Qatar.The current total and gestational age specific neonatal survival rates in the State of Qatar are comparable with international benchmarks. In Qatar, persistently high rates of low birth weight and lethal chromosomal and congenital anomalies significantly contribute towards neonatal mortality.

We report the results of molecular neonatal screening for homocystinuria (cystathionine beta-synthase deficiency) in neonates of Qatari origin, developed in conjunction with a novel biochemical screening approach. DNA was extracted from dried blood spots (DBS); the prevalent Qatari CBS gene mutation p.R336C (c.1006C>T) and a second mutation were tested with specific TaqMan assays. Over a period of 2 years we screened 12,603 neonates and identified six affected neonates homozygous for p.R336C. There were 225 heterozygous carriers for p.R336C. One additional child with homocystinuria detected through biochemical screening was homozygous for a mutation not previously identified in Qatar. Homocystinuria in the Qatari population has an incidence of 1:1,800, the highest in the world and even higher than previously estimated. Allele frequency of the mutation p.R336C is approximately 1%, displaying a significant deviation from Hardy Weinberg equilibrium. In conclusion, first-line molecular neonatal screening is technically feasible and may be developed as an option for presymptomatic identification of genetic disorders caused by specific mutations or a limited number of prevalent mutations. However, sensitivity for the diagnosis of disorders caused by various mutations is limited even in a homogeneous population such as Qatar.

Objective To allow early recognition of cystathionine β-synthase by newborn screening. Study design Total homocysteine was determined in dried blood spots with a novel, robust high-performance liquid chromatography method with tandem mass spectrometry. Quantification of homocysteine was linear over a working range up to 50 μmol/L. For mutation analysis, DNA was tested for 2 mutations common in Qatar. Results Both methods proved to be suitable for high throughput processing. In 2 years, 7 infants with classic homocystinuria were identified of 12 603 native Qatari infants, yielding an incidence of 1:1800. Molecular screening would have missed 1 patient homozygous for a mutation not previously identified in the Qatari population. Over a period of 3 years, a total of 14 cases of classic homocystinuria were detected by screening of homocysteine from all newborn infants born in Qatar (n = 46 406). Homocysteine was always elevated, whereas methionine was elevated in only 7 cases. Conclusions The study offers a reliable method for newborn screening for cystathionine β-synthase deficiency, reaching a sensitivity of up to 100%, even if samples are taken within the first 3 days of life.