Quick Guide To Birth Defects and Birth Defects Surveillance

FILIPINO ENGLISH

Brief Introduction

Guide on Birth Defects

What is a Birth Defect?

What causes Birth Defects?

Can Birth Defects be diagnosed, prevented or cured?

Birth Defects in the Philippines

Birth Defects Surveillance in the Philippines

In the Philippines, Congenital anomalies rank among the top 20 causes of death across the life span and are the third leading cause of death in the infancy period. Despite the magnitude of the problem, no formal systematic registration of birth defects was practised in the Philippines until 1999. Various attempts to gather data were made by study groups but there was no formal attempt to consolidate the information. However, hospitals now use the WHO International Statistical Classification of Diseases (ICD) and the Related Health Problems system, ICD-10 having been implemented in 1999.

The Philippine Birth Defects Surveillance Study Group

Congenital anomalies continue to be in the top 10 causes of infant mortality in the Philippines for the past 50 years. All newborns with single or multiple birth defects are all put under this category. Until the present times, there are no clear details on the types of birth defects and the causes are generally unknown. Establishing a surveillance program to provide incidence rates and other important information about birth defects are deemed necessary in determining the etiologies of birth defects in the local setting.

To address this need, the Philippine Birth Defects Surveillance Study Group was established in 2008. The study group is spearheading the establishment of a surveillance program for newborns with birth defects in every hospital in the country. The group started with 32 participating facilities and has expanded to another 42 facilities last January 2009. Another 64 facilities are targeted to be included in the study group by the year 2010. The Philippine Birth Defects Surveillance Project is envisioned to cover all babies born in health facilities and at home. The project is a collaboration of the IHG-NIH-UP and the National Center for Disease Prevention and Control of the Department of Health. It is partly supported by the March of Dimes Foundation, USA.

Previous efforts on Birth Defects Surveillance

Philippine Birth Defect Registry Project

This is a joint project conducted by the Department of Health and the Institute of Human Genetics of the National Institutes of Health (NIH)-UP Manila. It started in February 1999 with 79 hospitals nationwide participating. For 1999-2000, the project collected reports from 191 576 deliveries. This represents approximately 6.3% of the annual births in the country. A total of 1240 cases of birth defects have so far been tallied, the top 12 of which include:

• multiple congenital anomalies,
• congenital malformations of the tongue, mouth and pharynx (e.g., ankyloglossia),
• cleft lip and palate,
• Down syndrome,
• congenital deformities of the feet (e.g., talipes equinovarus),
• other congenital malformations of the face and neck (e.g., preauricular skin tags),
• anencephaly and similar neural tube defects,
• congenital malformations of the musculoskeletal system not elsewhere classified (e.g., diaphragmatic hernia, gastroschisis),
• hypospadias,
• congenital hydrocephalus,
• polydactyly and syndactyly, and
• cleft lip only.

Prenatal Inventory and Neonatal Outcome Study Group

This group was formed to determine the accuracy of detection and the effectiveness of perinatal and neonatal interventions on congenital anomalies. For the period 2000-2001, 73 mothers were enrolled after routine obstetric ultrasound examinations detected congenital anomalies on the fetus. Postnatal verification of the anomalies was assessed and 65.7% had confirmed abnormalities. The six top congenital anomalies were:

• multiple congenital anomalies,
• congenital hydrocephalus,
• neural tube defects,
• cleft lip and/or palate,
• hydrops foetalis, and
• congenital heart disease and omphalocoele.

Hospital Pathology Reports

Autopsy reports from 1995-1999 were reviewed at the Department of Pathology of the College of Medicine, University of the Philippines, Manila. A total of 68 cases were reported to have congenital malformations. The three most common malformations were:

• congenital heart disease (mostly patent ductus arteriosus),
• multiple congenital anomalies, and
• Down syndrome, with or without other congenital anomalies.

Hospital In-patient and Out-patient Records

The Philippine General Hospital (PGH) is the largest tertiary government hospital in the Philippines. In 2000, it serviced 639 760 patients either as inpatients, out-patients, or emergency patients. The hospital offers more than 1400 beds distributed throughout 12 departments. A review of records from 1996-2000 at the PGH revealed a total of 6742 cases with diagnoses of birth defects. The top 20 were:

• congenital malformation of the heart, unspecified,
• Hirschsprung’s Disease,
• congenital absence, atresia, and stenosis of anus without fistula,
• unspecified cleft lip and palate, bilateral,
• congenital hydrocephalus, unspecified,
• cleft lip and palate,
• cleft lip and multiple congenital malformations, not elsewhere classified,
• patent ductus arteriosus,
• spina bifida, unspecified,
• congenital cataract,
• hypospadias, unspecified,
• cleft palate, unspecified, unilateral,
• cleft palate only
• atresia of bile ducts,
• Down syndrome, unspecified,
• cleft lip only, unilateral,
• undescended testicle, unspecified,
• talipes equinovarus,
• encephalocele, unspecified, and
• peripheral arteriovenous malformation.

Community Outreach Programs

To augment health services in the country, voluntary medical and surgical missions are conducted all year round. Operation Smile is one of the organizations that has been conducting free surgical missions with the main purpose of repairing oral clefts in various provinces of the Philippines since 1992. As of 2000, Operation Smile had served 1633 Filipino children aged 10 years and below. Data from Operation Smile indicates that the Philippines has one of the highest rates of oral clefting in the world, with an incidence of 1:500. Studies are under way to determine the genetics of oral clefting in the Philippines.

References:

Institute of Human Genetics, National Institutes of Health- UP Manila (http://www.humangenetics.com.ph)

Mossey P. and E. Castilla (eds.). 2003. Global Registry and Database on Craniofacial Anomalies: Report of a Registry Meeting on Cranio-facial Anomalies. World Health Organization. Switzerland: Geneva.

Padilla CD, Cutiongco EM, Sia JM. Birth defects ascertainment in the Philippines. Southeast Asian J Trop Med Public Health. 2003; 34 Suppl 3:239-43 [PDF].

Padilla CD, Cutiongco EM, Cavan BC, Abarquez C et al. Establishment of the Philippine Birth Defects Surveillance. Acta Medica Philippina 2011; 45(4):12-19 [PDF]