Maternal Body Mass Index and Recommended Gestational Weight Gain in a Middle Eastern Setting.

OBJECTIVE: Maternal body mass index (BMI) and gestational weight gain (GWG) are modifiable risk factors that influence pregnancy outcomes. We examined the association between the two factors in pregnant women in Qatar with regard to the GWG recommendations by the Institute of Medicine (IOM) in 2009. METHODS: We performed a population-based retrospective cohort analysis of 3547 singleton births, using routinely collected data from a Middle Eastern hospital database. RESULTS: The mean maternal age was 29.7 ± 5.5 years, prepregnancy BMI was 27.5 ± 5.8 kg/m2, GWG was 9.58 kg ± 6.87 kg and gestational age at birth was 38.5 ± 1.9 weeks. In line with IOM recommendations, we found that higher BMI was correlated with decreased GWG and BMI was significantly associated with GWG even after adjusting for maternal age, parity, and infants' gestational age at birth. Nonetheless, GWG in more than one-third of women who were overweight or obese exceeded the IOM recommendation.

Impact of bariatric surgery on maternal gestational weight gain and pregnancy outcomes in women with obesity: A population-based cohort study from Qatar.

BACKGROUND: Bariatric surgery is performed in obese women of reproductive age to help achieve a healthy prepregnancy weight to reduce the complications associated with obesity in pregnancy. However, these procedures can impact maternal nutrition and gestational weight gain (GWG). This study evaluates the maternal and neonatal outcomes in women with prepregnancy bariatric surgery and determines the impact on GWG. METHODS: This study included 24 weeks gestation or more pregnancies, with a maternal BMI at delivery of 30 kg/m2 or more. It was categorized into two groups based on whether they had prepregnancy bariatric surgery (exposed) or not (unexposed). The outcomes included gestational diabetes (GDM), gestational hypertension (GHT), mode of delivery, preterm birth (PTB), GWG, birthweight (BW) and customized BW centiles, low birthweight (LBW), congenital anomalies, and admission to the neonatal intensive unit (NICU). Categorization was also done based on the adequacy of GWG (low, adequate, and excess). RESULTS: A total of 8,323 women were included in the study, 194 of whom had prepregnancy bariatric surgery. After adjusting for confounders, the exposed group had a mean GWG 1.33 kg higher than the unexposed group (95% CI 0.55-2.13, p = 0.001). The exposed group had higher odds of PTB (aOR 1.78, 95% CI 1.16-2.74, p = 0.008), CD (aOR 6.52, 95% CI 4.28-9.93, p < 0.001), LBW in term babies (aOR 2.60, 95% CI 1.34-5.03, p = 0.005), congenital anomalies (aOR 2.64, 95% CI 1.21-5.77, p = 0.015), low APGAR score (aOR 3.75, 95% CI 1.12-12.5, p = 0.032) and 80.4g lesser birthweight (95% CI -153.0, -5.8; p = 0.034). More women in the low GWG category had LBW babies (28.6% versus 6.7% in the high GWG group, p = 0.033), lowest mean BW and median BW centiles (2775 grams versus 3289 grams in the high GWG group, p = 0.004 and 57.5% versus 74.5% in the high GWG group, p = 0.040, respectively). CONCLUSION: The findings of this study highlight differences in perinatal outcomes such as preterm birth, low birth weight, congenital anomalies, cesarean deliveries, and gestational weight gain between post-bariatric women and controls. These insights can help inform the planning and provision of appropriate maternity care to enhance patient safety and outcomes. The results of this study can also guide the counseling of reproductive age-group women who are planning to undergo bariatric surgery.

Maternal and neonatal outcomes associated with multiple repeat cesarean deliveries: A registry-based study from Qatar.

BACKGROUND: Cesarean delivery (CD) is associated with increased maternal and neonatal morbidity compared to vaginal delivery, particularly in cases classified as emergency procedures or when there are multiple CDs. This retrospective cohort study aims to examine the incidence of maternal and neonatal complications in women with multiple CDs. METHODS: This study used data from a national perinatal database obtained from a single tertiary maternity care hospital. Women who delivered a singleton live birth after 24 weeks of gestation by CD were stratified into five groups based on the number of CDs, with the last group having five or more CDs. The women were divided into those with five or more CDs (Group 5) versus those with fewer than five (Groups 1 to 4). The maternal outcomes included intra-operative surgical complications, blood loss, and intensive care unit (ICU) admission. The neonatal outcomes included preterm birth, neonatal ICU (NICU) admission, respiratory distress syndrome (RDS), and perinatal death. RESULTS: Of the 6,316 women in the study, 2,608 (41.3%) had a primary CD. 30.3%, 17.5%, and 7.3% of the cohort had their second, third, and fourth CDs, respectively. Women undergoing the 5th CD and above formed the remaining 3.5% (227). Women in Group 5 had the highest risk of suffering a surgical complication (3.1%, p = 0.015) and postpartum hemorrhage (7.5%, p = 0.010). 24% of babies in Group 5 were born preterm (p < 0.001). They also had a 3.5 times higher risk of having a surgical complication (RR = 3.5, 95% CI 1.6-7.6, p = 0.002), a 1.8 times higher risk of developing postpartum hemorrhage (RR = 1.8, 95% CI 1.1-2.9, p = 0.014), a 1.7 times higher risk of delivering between 32-37 weeks of gestation (RR = 1.7, 95% CI 1.3-2.2, p < 0.001), a higher risk of the baby getting admitted to NICU (RR = 1.3, 95% CI 1.0-1.6, p = 0.038), and developing RDS (RR = 1.5, 95% CI 1.2-2.0, p = 0.002) compared to Groups 1-4. The risks of neonatal outcomes such as NICU admission (RR 2.9, 95% CI 2.1-4.0) and RDS (RR 3.5, 95% CI 2.3-5.5) were much higher in elective CDs performed at term compared to preterm births (p < 0.001 for both). CONCLUSION: Maternal morbidity significantly increases with the increasing number of CD. The increased risk of RDS and NICU admissions in the neonate with multiple CDs reflects lower gestational age and birthweight in these groups-consideration of preoperative steroids for lung maturation in these women to reduce neonatal morbidity warrants further discussion.

The impact of abnormal maternal body mass index during pregnancy on perinatal outcomes: a registry-based study from Qatar.

OBJECTIVES: Abnormal body mass index (BMI) during pregnancy, a growing public health concern, increases maternal and neonatal complications. This study aimed to investigate the impact of abnormal BMI on perinatal outcomes compared to normal BMI. METHODS: A total of 14,624 women having singleton births were categorized as underweight (BMI<18.5 kg/m2), overweight (25.0-29.9 kg/m2), obesity class I (30.0-34.9 kg/m2), obesity class II (35.0-39.9 kg/m2), and obesity class III (≥40.0 kg/m2) and compared to those with normal BMI (18.5-24.9 kg/m2). Outcomes included gestational diabetes (GDM), gestational hypertension (GHT), postpartum haemorrhage (PPH), cesarean delivery (CD), preterm birth (PTB), low birth weight (LBW), congenital anomalies and neonatal intensive care unit admission. RESULTS: Women with increasing BMI had increasingly higher odds of developing specific adverse outcomes, the highest being in the class III obesity group (GDM-aOR 2.71, 95 % CI 2.25-3.27, p<0.001, GHT-aOR 5.32 95 % CI 3.49-8.11, p<0.001, CD-aOR 2.33 95 % CI 1.85-2.94, p<0.001, PPH-aOR 1.77 95 % CI 1.35-2.33, p<0.001). On the other hand, being underweight during pregnancy was associated with increased odds of PTB (aOR 2.09, 95 % CI 1.37-3.20, p=0.001), LBW (OR 1.88, 95 % CI 1.27-2.79, p=0.002) and congenital anomalies (aOR 2.52 95 % CI 1.12-5.64, p=0.025). Majority in the underweight category gained less than expected gestational weight gain during the pregnancy. CONCLUSIONS: The findings of this study have important implications for the clinical management of pregnant women with abnormal BMI. Interventions to improve maternal and neonatal outcomes must focus on enhancing pre-pregnancy BMI and maintaining adequate gestational weight gain.

The neonatal respiratory morbidity associated with early term caesarean section - an emerging pandemic.

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 <7 at 5 min of age, respiratory support, duration of respiratory support and NICU admission. 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.

Antenatal corticosteroids and short-term neonatal outcomes in term and near-term infants of diabetic mothers. Analysis of the Qatar PEARL-peristat registry.

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.

Maternal characteristics and pregnancy outcomes of women with chronic hypertension: a population-based study.

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-value <0.001. Pre-existing diabetes was found more in women with CHTN 15.1% compared to non-CHTN women 1.9%, P-value <0.001; while obesity was found in 64% of women with CHTN compared to 32.5% in non-CHTN women, P-value <0.001. Preterm birth was noted in 26% compared to 8% in CHTN compared to non-CHTN women, respectively, P-value <0.001. 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.

Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

Perinatal outcomes in women with class IV obesity compared to women in the normal or overweight body mass index categories: A population-based cohort study in Qatar.

Background: The prevalence of childhood and adult obesity is rising exponentially worldwide. Class IV obesity (body mass index, BMI ≥50 kg/m2) is associated with a higher risk of adverse perinatal outcomes. This study compared these outcomes between women with class IV obesity and women in the normal or overweight categories during pregnancy. Methods: A retrospective cohort study was performed in Qatar, including women having singleton live births beyond 24 weeks of gestation, classified into two class IV obesity and normal/overweight (BMI between 18.5 and 30.0 kg/m2). The outcome measures included the mode of delivery, development of gestational diabetes and hypertension, fetal macrosomia, small for date baby, preterm birth and neonatal morbidity. Adjusted odds ratios (aOR) with 95% confidence intervals (95% CI) were determined using multivariable logistic regression models. Results: A total of 247 women with class IV obesity were compared with 6797 normal/overweight women. Adjusted analysis showed that women with class IV obesity had 3.2 times higher odds of cesarean delivery (aOR: 3.19, CI: 2.26-4.50), 3.4 times higher odds of gestational diabetes (aOR: 3.39, CI: 2.55-4.50), 4.2 times higher odds of gestational hypertension (aOR: 4.18, CI: 2.45-7.13) and neonatal morbidity (aOR: 4.27, CI: 3.01-6.05), and 6.5 times higher odds of macrosomia (aOR 6.48, CI 4.22-9.99). Conclusions: Class IV obesity is associated with more adverse perinatal outcomes compared with the normal or overweight BMI categories. The study results emphasized the need for specialized antenatal obesity clinics to address the associated risks and reduce complications.

Review of socioeconomic risk factors for cesarean births: a population-based study.

OBJECTIVES: The reasons for increased cesarean section (CS) rates are complex and multifactorial. The goal of this study was to look at different social and economic factors that might be causing more cases of CS in the population. STUDY DESIGN: A retrospective population-based cohort study. Data was taken from the Perinatal Neonatal Outcomes Research study in the Arabian Gulf (PEARL study) registry. Data from 60,728 live births ≥ 24 weeks of gestation were analyzed. In this study, various socioeconomic factors, such as maternal nationality, religion, educational level, employment status, parental income, consanguinity, housing, preterm birth, and tall stature, were examined for women undergoing cesarean section (CS) and their economic outcomes. Women who underwent vaginal delivery (VD) were compared. There are risks associated with pregnancy, smoking, assisted conception, and prenatal care. RESULTS: 60,728 births ≥ 24 weeks gestation were included in the analysis. 17,535 women delivered by CS (28.9%). Women with university-level -education and above were more likely to deliver by CS (61%), as compared to illiterate women or women with basic education at elementary or secondary levels (OR 0.73, CI 95%: P: <0.0001). Working women were more likely to deliver by CS (OR 1.40, CI 95%, P value <0.0001). Women living in rented houses were less likely to achieve a normal delivery (71.8%) (OR 1.40, CI 95%; P: <0.0001) as compared to women living in owned houses (74.7%). Women over 20 years old tended to achieve more VD compared to women less than 20 years old. P value <0.0001. Smoking was associated with lower chances of VD, with 42.4% of smokers delivered by CS compared to 28.3% of non-smokers (OR 1.87, CI 95%; P: <0.0001). Assisted conception was associated with higher CS rates as compared to spontaneous conceptions (OR 0.39; P: <0.0001). We found no statistically significant differences in how babies were born based on the mother's nationality, the father's job, or the mother's income. CONCLUSIONS: Higher education, employed mothers, smoking, and living in rented houses were socioeconomic factors associated with a higher rate of CS in our population. Furthermore, women who had regular antenatal care were more at risk for delivery by cesarean section, which could be related to other comorbidities increasing the likelihood of cesarean birth rather than antenatal care itself. In our population, assisted reproduction was associated with a higher probability of cesarean delivery.

Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study.

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations and deletions in SMN1 at exon 7. The carrier frequency for SMN1 mutations ranges from 2 to 4% in the general population. METHODS: We examined allelic, genotypic relatedness and copy number (CN) variations and frequencies of SMN1 and SMN2, in 13,426 samples from Qatar biobank (QBB) to provide a precise estimation of SMA carrier frequency in Qatar in comparison to other populations. RESULTS: The SMA carrier frequency was found to be (2.8%) and the rs143838139 was found in 491/13426 (3.66%) of individuals. The SNP rs121909192, which is a pathogenic risk factor, was found in 321/13500 (2.38%). In Addition 242/11379 (2.13%) had two copies of SMN1 and the rs143838139, which may explain the (2 + 0) silent carrier. Additionally, two participants were found to be SMA type 4 with 0 and 4 copy numbers in SMN1 and SMN2, respectively. CONCLUSION: The SMA carrier frequency in Qatar was found to be comparable to Saudi Arabia and Caucasians. The likely pathogenic variant, rs121909192, was found to be significantly higher when compering with other in our study. The rs143838139 variant, which has a strong association with the silent carrier genotype, has been found. Consequently, testing for this SNP may enhance the precision of evaluating the likelihood of a patient having an affected child. We conclude that the frequency of SMA carriers varies within the Qatar population and other ethnic groups.

Impact of timing and severity of COVID-19 infection in pregnancy on intrauterine fetal growth- a registry-based study from Qatar.

BACKGROUND: The novel coronavirus disease (COVID-19) pandemic has impacted pregnant women, increasing maternal and neonatal morbidity. The placenta is a potential target for the pathophysiological processes due to the increased thrombotic inflammatory activation and inadequate uteroplacental perfusion and oxygenation, potentially causing intrauterine growth restriction. This study investigates the impact of gestational age at diagnosis of COVID-19 and the presence of symptoms on intrauterine fetal growth in pregnant women. METHODS: A retrospective review of COVID-19 positive pregnant women in Qatar from March 2020 to March 2021 was conducted. They were divided based on trimester of pregnancy in which they were infected. The outcomes included birthweight, customised fetal birthweight centiles, small for gestational age (SGA) baby and daily growth increments, compared between the trimesters and between symptomatic and asymptomatic women. RESULTS: In our cohort, 218 women (20.5%) were infected in the first trimester, 399 (37.5%) in the second and 446 (42%) in the third. Women in the second trimester were significantly younger and symptomatic. Women infected in the first trimester were least likely to have diabetes. The mean birthweight, risk of SGA (11.5% vs 10% vs 14.6%, p = 0.302), and median customized growth centiles (47.6% vs 45.9% vs 46.1%)were similar between the groups. Symptomatic women had significantly lower mean birthweight (3147 gms vs 3222 gms) and median birthweight centiles (43.9% vs 54.0%)compared to the asymptomatic (p<0.05 for both). In women infected within 20 weeks of gestation, a delay in daily fetal growth increments was noted with symptomatic disease, although not statistically significant. CONCLUSION: This study shows that women with symptomatic disease had lower birth centiles and birth weights. This was regardless of the gestational age at which they were infected. Early symptomatic disease seems to have an impact on fetal growth velocity; however, larger studies are needed to corroborate these findings.

Prevalence, predictors, and outcomes of major congenital anomalies: A population-based register study.

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 < 7 at 1 min (aOR 5.44; 95% CI 3.10-9.55), Apgar < 7 at 5 min (aOR 17.26; 95% CI 6.31-47.18), in-hospital mortality (aOR 76.16; 37.96-152.8), admission to neonatal intensive care unit (NICU) or perinatal death of neonate in labor room (LR)/operation theatre (OT) (aOR 34.03; 95% CI 20.51-56.46), prematurity (aOR 4.17; 95% CI 2.75-6.32), and low birth weight (aOR 5.88; 95% CI 3.92-8.82) before and after adjustment for the significant risk factors. This is the first study to assess the incidence, maternal risk factors, and neonatal outcomes associated with CAs in the state of Qatar. Therefore, a specialized congenital anomaly data registry is needed to identify risk factors and outcomes. In addition, counselling of mothers and their families may help to identify specific needs for pregnant women and their babies.

Association of single nucleotide polymorphisms with dyslipidemia and risk of metabolic disorders in the State of Qatar.

BACKGROUND: Dyslipidemia is recognized as one of the risk factors of cardiovascular diseases (CVDs), type 2 diabetes mellitus (T2DM), and non-alcoholic fatty liver disease (NAFLD). OBJECTIVE: The study aimed to investigate the association between selected single nucleotide polymorphisms (SNPs) with dyslipidemia and increased susceptibility risks of CVD, NAFLD, and/or T2DM in dyslipidemia patients in comparison with healthy control individuals from the Qatar genome project. METHODS: A community-based cross-sectional study was conducted among 2933 adults (859 dyslipidemia patients and 2074 healthy control individuals) from April to December 2021 to investigate the association between 331 selected SNPs with dyslipidemia and increased susceptibility risks of CVD, NAFLD and/or T2DM, and covariates. RESULTS: The genotypic frequencies of six SNPs were found to be significantly different in dyslipidemia patients subjects compared to the control group among males and females. In males, three SNPs were found to be significant, the rs11172113 in over-dominant model, the rs646776 in recessive and over-dominant models, and the rs1111875 in dominant model. On the other hand, two SNPs were found to be significant in females, including rs2954029 in recessive model, and rs1801251 in dominant and recessive models. The rs17514846 SNP was found for dominant and over-dominant models among males and only the dominant model for females. We found that the six SNPs linked to gender type had an influence in relation to disease susceptibility. When controlling for the four covariates (gender, obesity, hypertension, and diabetes), the difference between dyslipidemia and the control group remained significant for the six variants. Finally, males were three times more likely to have dyslipidemia in comparison with females, hypertension was two times more likely to be present in the dyslipidemia group, and diabetes was six times more likely to be in the dyslipidemia group. CONCLUSION: The current investigation provides evidence of association for a common SNP to coronary heart disease and suggests a sex-dependent effect and encourage potential therapeutic applications.

Perinatal outcomes of intrahepatic cholestasis of pregnancy from two birth cohorts: A population-based study.

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.

Pre-eclampsia: incidence, determinants, and pregnancy outcomes from maternity hospitals in Qatar: a population-based case-control study.

BACKGROUND: We aimed to study the maternal characteristics and obstetric and neonatal outcomes in pregnant mothers with pre-eclampsia (PE) compared to normotensive. METHODS: 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 (n = 18,735) and women with PE (n = 459) excluding women with gestational hypertension and chronic hypertension without superimposed PE(n = 568). We compared the maternal characteristics of mothers with PE with normotensive mothers and studied the obstetric and neonatal outcomes including cesarean section, stillbirths, prematurity, fetal growth restriction and postpartum hemorrhage (PPH). RESULTS: 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% p < .001 of PE vs normotensive women, respectively. After adjusting for significant maternal risk factors using multivariate logistic regression anlaysis, it was noted that PE was significantly associated with a higher odds for cesarean section (odds ratio (OR), 2.67 (95% CI, 2.19-3.25); p < .001), acute maternal morbidity (OR, 16.42 (95% CI, 5.58-48.30); p < .001), still births (OR, 3.27 (95% CI, 1.56-6.83); p < .001), preterm births (OR, 8.67 (95% CI, 7.05-10.65); p < .001), NICU admissions (OR, 4.41 (95% CI, 3.61-5.38); p < .001) and low birth weight (OR, 7.93 (95% CI, 6.43-9.29); p < .001). CONCLUSION: 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.

Incidence, risk factors, and feto-maternal outcomes of inappropriate birth weight for gestational age among singleton live births in Qatar: A population-based study.

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.

Incidence, Risk Factors, and Outcomes of Preterm and Early Term Births: A Population-Based Register Study.

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 < 7 at 1 and 5 min 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.

Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards.

OBJECTIVE: To allow early recognition of cystathionine beta-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 micromol/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 beta-synthase deficiency, reaching a sensitivity of up to 100%, even if samples are taken within the first 3 days of life.

Overview and Introduction to Autism Spectrum Disorder (ASD).

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.