Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011

The national neonatal screening programme in the United Arab Emirates currently includes 16 disorders: congenital hypothyroidism, sickle-cell diseases, congenital adrenal hyperplasia, biotinidase deficiency and 12 amino acid, organic acid and fatty acid disorders. This paper reports data since the programme started in January 1995 up to December 2011 on the incidence of screened disorders and the molecular basis of positive screened cases. Screening used a combination of tandem mass spectrometry, molecular technologies and biochemical analysis. A total of 750 365 infants were screened and 717 babies saved from associated morbidity and/or mortality. The incidence of screened disorders were 1:1 873 for congenital hypothyroidism, 1:14 544 for phenylketonuria, 1:3 526 for amino acid, organic acid and fatty acid disorders, 1:9 030 for classical congenital adrenal hyperplasia, 1:8 300 for biotinidase deficiency, 1:2 384 for sickle-cell disease and 1:121 for sickle-cell traits. Coverage of neonatal screening in the population reached 95% in 2010

Challenges on percutaneous nephrolithotomy in pregnancy: supine position approach through ultrasound guidance

Urolithiasis in pregnancy represents a major diagnostic and therapeutic challenge to the obstetrician, urologist, radiologist and anesthetist. It is a cause of major concern, considering the potential adverse effects of radiation exposure and of any invasive surgical procedure and anesthesia on the mother and fetus. Fortunately, with conservative management, 70-80% of symptomatic calculi pass spontaneously with no sequel. However, fever, infection, uncontrolled pain and progressive hydronephrosis are indications for surgical intervention when retrograde placements of a ureteral stent or a percutaneous nephrostomy tube are the most traditional options. The recent technological advances in stone fragmentation devices and the administration of safe anesthesia have forced clinicians to embark on more definitive stone management techniques in pregnancy. Ureteroscopy is considered the first definitive treatment of obstructive ureteral calculi during all trimesters of pregnancy, but also has limitations. Although generally avoided during pregnancy, percutaneous nephrolithotomy can be a good treatment choice in selected patients.

National Congenital Anomalies Register in the United Arab Emirates

The National Congenital Anomalies Register is a population-based register covering all births in the United Arab Emirates. We evaluated the progress of the register and determined the prevalence of congenital anomalies [CAs] and associated maternal and neonatal risk factors. Total prevalence of CAs for 1999-2001 was 7.89/1000, 10.95/1000 and 7.92/1000 for live births, stillbirths and total births respectively. Rates were comparable to international rates for all districts except Dubai, Fujairah and Ras Al Khaimah. According to the International classification of diseases, the cardiovascular system was the most affected followed by CAs of chromosomal and the musculo-skeletal system. Birth defects were more common with older maternal age, gr and multiparity, male babies, low-birth-weight babies and premature babies

Prevalence of iodine deficiency disorders in the United Arab Emirates measured by raised TSH levels

The United Arab Emirates National Screening Programme for Congenital Hypothyroidism was established in January 1998. The programme measures neonatal thyroid-stimulating hormone [TSH] levels of blood samples collected on filter paper on day 5 by heel prick. The prevalence of raised TSH levels [> 5 microU/mL whole blood] during 1998 and 1999 was used to evaluate the degree of iodine-deficiency disorders [IDD] in the population in different regions. The ratio of TSH profile in the present study and goitre rate in schools in a 1994 study were discrepant, although there was good correlation between the ratio of TSH profile and urinary iodine. The prevalence of raised TSH levels was < 3% in the Emirates overall, which is normal, and IDD varied from mild to normal problems in different regions

United Arab Emirates National Newborn Screening Programme: an evaluation 1998-2000

To evaluate the United Arab Emirate National Newborn Screening Programme we compared coverage, timeliness of programme indicators [age at sampling, recall and treatment initiation, timing of specimen delivery and laboratory results] and specimen quality with international st and ards. Recall rate, sensitivity, specificity, positive predictive values and relative incidence rates for phenylketonuria [PKU] and congenital hypothyroidism [CH] were calculated. Investigations for hypothyroidism included thyroid function studies [T3, T4, fT4 and TSH], technetium-99m thyroid scan when possible and thyroglobulin and thyroid antibodies when indicated. PKU investigations included plasma amino acids and measurement of biopterin defects. In the 6 years before December 2000, 138,718 neonates were screened. Relative incidences for CH and for classic PKU were 1:1570 and 1:20,050 respectively