Birth prevalence of non-syndromic orofacial clefts in Saudi Arabia and the effects of parental consanguinity

Objectives: To describe the characteristics and prevalence of non-syndromic orofacial clefting (NSOFC) and assess the effects of parental consanguinity on NSOFC phenotypes in the 3 main cities of Saudi Arabia. Methods: All infants (114,035) born at 3 referral centers in Riyadh, and 6 hospitals in Jeddah and Madinah between January 2010 and December 2011 were screened. The NSOFC cases (n=133) were identified and data was collected through clinical examination and records, and information on consanguinity through parent interviews. The diagnosis was confirmed by reviewing medical records and contacting the infants’ pediatricians. Control infants (n=233) matched for gender and born in the same hospitals during the same period, were selected. Results: The prevalence of NSOFC was 1.07/1000 births in Riyadh, and 1.17/1000 births overall; cleft lip (CL) was 0.47/1000 births, cleft lip and palate (CLP) was 0.42/1000 births, and cleft palate (CP) was 0.28/1000 births. Cleft palate was significantly associated with consanguinity (p=0.047, odds ratio: 2.5, 95% confidence interval: 1 to 6.46), particularly for first cousin marriages. Conclusion: The birth prevalence of NSOFC in Riyadh alone, and in the 3 main cities of Saudi Arabia were marginally lower than the mean global prevalence. While birth prevalence for CLP was comparable to global figures, the CL:CLP ratio was high, and only CP was significantly associated with consanguinity

Outcomes of Isolated Antenatal Hydronephrosis at First Year of Life

Objectives: To compare the grade of hydronephrosis between the antenatal and first postnatal ultrasound (US) and their clinical outcomes. Methods: This retrospective study included all cases of isolated hydronephrosis detected by antenatal US from August 2005 to February 2011. Hydronephrosis was classified based on the standard criteria into mild, moderate, or severe. Cases associated with other major congenital anomalies were excluded. All patients were followed-up postnatally and outcomes available were analyzed at one year of age. Results: A total of 105 cases were included out of which 83 (79.0%) were males and 22 (20.9%) were females with a median gestational age of 38 weeks. First postnatal US of 105 cases showed that 20 (19.0%) were free of hydronephrosis, 39 (37.1%) had mild, 29 (27.6%) moderate, and 17 (16.1%) had severe hydronephrosis. Half (50.4%) of hydronephrosis cases improved in their clinical presentation while 13.3% showed deterioration and 36.3% remained the same. Almost half of all cases (52 cases) were diagnosed by US at the end of first year without any effect on renal function. Conclusions: Antenatal and postnatal US are sensitive tools for detecting hydronephrosis as well as for postnatal counseling. Fetal anatomy US is usually done at 18 weeks gestation and if this reveals any evidence of hydronephrosis, the patient is followed according to the severity. Postnatal US is not done routinely for cases where hydronephrosis resolves completely during pregnancy. Although newborns with antenatal hydronephrosis due to secondary causes are at greater risk for renal impairment, surgical intervention reserves renal function

Effectiveness of Prophylactic Cervical Cerclage in Prolonging Higher-Order Multiple Pregnancies

Objectives: This study aimed to assess the value of prophylactic cervical cerclage in prolonging higher-order multiple pregnancies. Methods:This retrospective study included all women with higher-order multiple pregnancies beyond 24 gestational weeks treated at the King Abdullah University Hospital in Irbid, Jordan, and King Fahad Medical City in Riyadh, Saudi Arabia, between February 2014 and January 2015. Selected maternal characteristics and obstetric outcomes were compared between women who received prophylactic cervical cerclage and those who did not. Results: A total of 146 women with higher-order multiple pregnancies were included in the study; of these, 94 (64.4%) underwent a prophylactic cervical cerclageinsertion procedure and 52 (35.6%) women did not. No significant difference was found between the two groups with regards to maternal age, parity or number of fetuses. However, the mean gestational age at delivery was significantly higher for women without compared to those with prophylactic cervical cerclage (32.9 weeks versus 31.7 weeks) according to both univariate and multivariate analyses (P = 0.013 and 0.046, respectively). Additionally, 40.4% of women without and 14.9% of women with prophylactic cervical cerclage gave birth after 34 gestational weeks (P = 0.003). Conclusion: Overall, prophylactic cervical cerclage was not associated with prolongation of the pregnancy among women with higher-order multiple pregnancies in the current study

Incidence of non-syndromic orofacial cleft during the COVID-19 pandemic in Saudi Arabia

Abstract Objectives This is the first national study to investigate the incidence of non-syndromic oro-facial clefts (NSOFC) and Pierre-Robin-Sequence in Saudi Arabia over the Covid-19 pandemic period. Methods All maternity hospitals (30-hospitals) in the major regions and cities of Saudi from November 2020-to-2021 were included in the study. Patients were evaluated for cleft phenotype using the LASHAL-classification system. The incidence of NSOFC in Saudi Arabia was calculated by comparing the number of NSOFCs cases born out of all live births during the study period at the included hospitals. Clinical examination was performed and information was gathered using a validated data collection form. Results In one year, 140,380 live-infants were born at the selected hospitals. Of these, 177 were diagnosed with NSOFC giving an incidence of 1.26/1,000 live-births in Saudi Arabia and the highest incidence in Medina city (2.46/1000 live-births). The incidence of cleft lip-and-palate (0.67/1000 live-births) was higher than that of cleft-palate (0.37/1000 live-births) and cleft-lip (0.22/1000 live-births). Pierre-Robin Sequence incidence was (0.04/1000 live-births). There were 21(12.1) or 23(13.2%) of NSOFC’s mothers exposed or vaccinated with Covid-19, respectively. Conclusion The national incidence of NSOFC in Saudi Arabia was 1.26/1000 live births with variation between phenotypes and regions in the country. In addition, to reporting Covid-19 infection prevalence and vaccine exposure among NSOFC's mothers, this study represents the first of its type to evaluate NSOFC prevalence in Saudi Arabia on a national level

Household income, fetal size and birth weight:an analysis of eight populations

International audienceBackground The age at onset of the association between poverty and poor health is not understood. Our hypothesis was that individuals from highest household income (HI), compared to those with lowest HI, will have increased fetal size in the second and third trimester and birth. Methods. Second and third trimester fetal ultrasound measurements and birth measurements were obtained from eight cohorts. Results were analysed in cross-sectional two-stage individual patient data (IPD) analyses and also a longitudinal one-stage IPD analysis. Results The eight cohorts included 21 714 individuals. In the two-stage (cross-sectional) IPD analysis, individuals from the highest HI category compared with those from the lowest HI category had larger head size at birth (mean difference 0.22 z score (0.07, 0.36)), in the third trimester (0.25 (0.16, 0.33)) and second trimester (0.11 (0.02, 0.19)). Weight was higher at birth in the highest HI category. In the one-stage (longitudinal) IPD analysis which included data from six cohorts (n=11 062), head size was larger (mean difference 0.13 (0.03, 0.23)) for individuals in the highest HI compared with lowest category, and this difference became greater between the second trimester and birth. Similarly, in the one-stage IPD, weight was heavier in second highest HI category compared with the lowest (mean difference 0.10 (0 .00, 0.20)) and the difference widened as pregnancy progressed. Length was not linked to HI category in the longitudinal model. Conclusions The association between HI, an index of poverty, and fetal size is already present in the second trimester

Molecular autopsy in maternal-fetal medicine

Purpose: The application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe Mendelian disorders, has been limited.& para;& para;Methods: In this study, we employed exome sequencing as a molecular autopsy tool in a cohort of 44 families with at least one death or lethal fetal malformation at any stage of in utero development. Where no DNA was available from the fetus, we performed molecular autopsy by proxy, i.e., through parental testing.& para;& para;Results: Pathogenic or likely pathogenic variants were identified in 22 families (50%), and variants of unknown significance were identified in further 15 families (34%). These variants were in genes known to cause embryonic or perinatal lethality (ALPL, GUSB, SLC17A5, MRPS16, THSD1, PIEZO1, and CTSA), genes known to cause Mendelian phenotypes that do not typically include embryonic lethality (INVS, FKTN, MYBPC3, COL11A2, KRIT1, ASCC1, NEB, LZTR1, TTC21B, AGT, KLHL41, GFPT1, and WDR81) and genes with no established links to human disease that we propose as novel candidates supported by embryonic lethality of their orthologs or other lines of evidence (MS4A7, SERPINA11, FCRL4, MYBPHL, PRPF19, VPS13D, KIAA1109, MOCS3, SVOPL, FENI, HSPB11, KIF19, and EXOC3L2).& para;& para;Conclusion: Our results suggest that molecular autopsy in pregnancy losses is a practical and high-yield alternative to traditional autopsy, and an opportunity for bringing precision medicine to the clinical practice of perinatology