Population-Based Study of Prevalence of Cleft Lip/Palate in Southern Thailand.

INTRODUCTION: Oral cleft is a common craniofacial birth defect that leads to long-lasting adverse outcomes. In Thailand, there have been two studies of the prevalence of oral clefts using data from university hospitals during 1969 through 1978 and 1988 through 1999, which found prevalence rates of 1.23 and 1.22 per 1000 live births, respectively. OBJECTIVE: The primary outcome was to assess the prevalence of oral clefts from the birth defects registry during 2009 through 2013 in three provinces in southern Thailand. The secondary outcomes were to correlate the risk of oral cleft and maternal age. DESIGN: Population-based study. SETTING: Four hundred sixty-seven hospitals in three provinces in southern Thailand. PARTICIPANTS: Oral cleft cases and maternal data-including live births, stillbirths, and termination of pregnancy following a prenatal diagnosis-were collected from the birth defects registry. RESULTS: Of the total 186,393 births, there were 269 oral cleft cases, giving an average prevalence of 1.44 per 1000 births (95% CI, 1.22-1.63). The most common cleft type was cleft lip and palate (45.0%), followed by cleft palate (29.0%), with 15.6% syndromic cleft. The mean maternal age was 28.0 ± 6.4 years. There were no differences in prevalence of oral clefts among the different maternal age groups. However, advanced maternal age 35+ years was associated with syndromic cleft children. CONCLUSIONS: The prevalence of oral clefts was 1.44 per 1000 live births, with 15% of cases having an associated congenital anomaly or a recognized syndrome. Increased maternal age was associated with a higher prevalence of syndromic cleft.

Prevalence of neural tube defect in southern Thailand: a population-based survey during 2009-2012.

BACKGROUND: Neural tube defects (NTDs) are a group of congenital malformation of the central nervous system that leads to permanent physical disability and requires lifelong treatment. In Thailand, there have been three published articles on NTDs, all hospital-based studies, which found prevalence of NTDs of 4.8-6.7 per 10,000 live births. OBJECTIVE: It was our purpose with this study to determine the prevalence and type of NTDs in southern Thailand through a population-based survey. METHOD: Data were obtained through the population-based surveillance during 2009-2012 in three provinces (Songkhla, Phatthalung, Trang) in southern Thailand. Entries in the birth defects registry included all live births, all stillbirths after 24-week gestational age, and termination of pregnancy following the prenatal diagnosis at any gestational age of all congenital anomalies. RESULTS: During 2009-2012, 148,759 births were registered in the three provinces. Twenty-eight NTD cases were identified, giving an average of 1.88 per 10,000 births (95 % CI 1.20-2.51): 12 cases with anencephaly (42.8 %), 5 with occipital encephalocele (17.9 %), and 11 with myelomeningocele (39.3 %). The birth prevalence per 10,000 births of anencephaly, encephalocele, and myelomeningocele were 0.81, 0.33, and 0.74, respectively. Sixteen (57 %) were detected in live births, and 12 (43 %) were detected by prenatal diagnosis which later resulted in termination of pregnancy. CONCLUSIONS: The prevalence of NTDs based on the population-based study in southern Thailand was low. About 40 % of NTD cases were detected prenatally and later terminated. Hence, examining only registry live births will result in an inaccurately low NTD prevalence rate.

Septicemia, meningitis, and skull osteomyelitis complicating infected cephalhematoma caused by ESBL-producing Escherichia coli.

An infected cephalhematoma is a rare condition in neonates. We report a case of an 18-day-old neonate who was diagnosed with an infected cephalhematoma caused by an extended spectrum beta-lactamase (ESBL)-producing Escherichia coli complicated with septicemia, meningitis, and skull osteomyelitis. He was successfully treated with meropenem and surgical incision and drainage. ESBL-producing E. coli may cause infection of a cephalhematoma in neonates.

Comorbidities in Down syndrome livebirths and health care intervention: an initial experience from the birth defects registry in Southern Thailand.

BACKGROUND: Down syndrome (DS) is the most common chromosomal disorder causing mental retardation with a worldwide average prevalence of 1-2 cases per 1000 births. This study aimed to determine the comorbidities associated with DS and the coverage of health care services and developmental interventions for DS livebirths in Southern Thailand. METHODS: A total of 149 livebirth DS infants, recruited through the prospective birth defects registry system during 2009-2013 in 3 provinces in Southern Thailand, were regularly followed-up every 3-6 months. The data collection form included the infants' demographic data, associated congenital anomalies, and developmental interventions. RESULTS: The DS infants were born at an average gestational age of 38.5±2.3 weeks with average birth weight of 2760±478 g, length 48.5±2.2 cm, and head circumference 32.7±1.2 cm. Congenital heart diseases, gastrointestinal defects and congenital hypothyroidism were found in 43.0%, 6.7%, and 12.1% of the cases, respectively. The percentage of DS infants who received developmental interventions in this current study were significantly greater than in a previous study covering the years 1992-2002: early stimulation program 90.0% vs. 65.6% (P<0.01), and speech training program 74.8% vs. 38.9% (P<0.01), respectively, and the infants in our study began intervention programs significantly earlier, 0.58±0.39 years vs. 1.69±0.66 years, respectively. CONCLUSIONS: Congenital heart disease was the most common comorbidity associated with DS. The coverage of health care services and developmental interventions for DS children has generally improved in Southern Thailand. One hundred percent coverage of health services and interventions for children with special needs is expected in the near future.

A population-based study of prevalence of Down syndrome in Southern Thailand.

BACKGROUND: Down syndrome (DS) is the most common chromosomal disorder that causes mental retardation. In 2009, a population-based birth defects study was implemented in three provinces in southern Thailand. This study aimed to determine the prevalence of DS in the studied regions, and the proportion of DS fetuses detected by prenatal screening. METHODS: Data were obtained from a population-based surveillance study undertaken during 2009-2013. Entries in the birth defects registry included live births, stillbirths after 24 weeks gestational age, and terminations of pregnancy following prenatal diagnosis. Infants with clinical characteristics of DS had a chromosomal study to make a definite diagnosis. RESULTS: Of the total 186 393 births recorded during the study period, 226 DS cases were listed, giving a prevalence of 1.21 per 1000 births [95% confidence interval (CI) 1.05-1.37]. The median maternal age was 36.5 years with a percentage of maternal age ≥35 years of 60.6%. Seventy-seven cases (34.1% of all cases) were diagnosed prenatally and these pregnancies were terminated. The prevalence of DS per 1000 births was significantly higher in older women, from 0.47 (95% CI 0.28-0.67) in mothers aged <30 years to 0.88 (95% CI 0.59-1.17) in mothers 30-<35 years (P<0.01), and to 4.74 (95% CI 3.95-5.53) in mothers ≥35 years (P<0.001). CONCLUSIONS: The prevalence of DS significantly increased with maternal age. About 35% of DS cases were detected prenatally and later terminated. Hence, examining only registry live births will result in an inaccurate prevalence rate of DS.

Prevalence of congenital limb defects: Data from birth defects registries in three provinces in Southern Thailand.

This is the first population-based study in Thailand on the prevalence of congenital limb defects (CLD). Data were obtained from recently established birth defects registries in three southern Thailand provinces during 2009-2013. Entries in the birth defects registries included live births, stillbirths after 24 weeks gestational age, and terminations of pregnancy following a prenatal diagnosis of fetal anomaly. The total of 186 393 births recorded included 424 CLD cases, giving an average prevalence of 2.27 per 1000 births (95% CI, 2.05-2.49). The most common CLD was talipes equinovarus (44.1%), followed by polydactyly (13.9%) and syndactyly (9.4%). The prevalence significantly increased with maternal age from 1.81 in mothers aged <30 years to 2.75 in mothers 30 to < 35 years, and to 2.94 in mothers ≥35 years (P = 0.004). Overall 9.4% of the CLDs were syndromic CLD, again with significantly greater percentages in pregnant women aged ≥35 years than the non-syndromic CLD (32.5% vs 17.5% respectively, P = 0.03). In conclusion, the overall prevalence of CLD in the 3 southern Thailand provinces examined was 2.27 per 1000 births, and syndromic CLD was significantly higher in pregnant women aged ≥35 years than younger pregnant women.

De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation.

We report on a case of satellited 15q with subtelomeric deletion in a girl with delayed development and severe growth retardation. The patient also has a triangular face, downturned angles of the mouth, micrognathia, and minor limb malformations including mild talipes equinovarus, genu recurvatum, and increased dorsiflexion of both limbs. Cytogenetic analysis using standard GTG banding showed a female karyotype with a satellited-like structure at the distal long arm of one chromosome 15. Silver staining of the nucleolar organizing region (AgNOR) confirmed the presence of a satellite DNA translocation at the lesion. Analysis using fluorescent in situ hybridization (FISH) detected a subtelomeric deletion of the terminal 15q. Additional molecular analysis using microsatellite markers along the long arm of chromosome 15 defined a maximally deleted region at approximately 4.7 Mb. Haploinsufficiency of the IGF1R gene expression is thought to be the cause of growth delay in all 15q terminal deletion including our patient.