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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.

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.

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.

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.

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

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.