Terdepan dalam Pelayanan Kesehatan
Perempuan, Perinatal dan Anak

tolak gratifikasi

Birth defect, beyond the BIG three

By Jo Edy Siswanto
* Dipresentasikan pada “Jakarta Neonatal Meeting SYMPHONIC 2015”, Hotel Borobudur, 22 Maret 2015

As we know  from 2.7 million of neonatal mortality (193 countries, 2010), birth defects contribute 10% of neonatal mortality etiology. This number consist of: 1.08 million pretem birth complication, 830,000 neonatal infection, 720,000 intrapartum related, 270,000 congenital anomalies, and 181,000 other neonatal condition. The major cause of mortality, neonatal death is 44% and over 60% of this group associated with LBW (WHO Global Health Observatory). In this report, congenital abnormalities account is 4%. Data U5MR from SEAR (South East Asia region), the major causes of mortality were neonatal death 52%, pneumonia 15%, diarrhoea 10% Neonatal death as the biggest cause of mortality consist of  pretem births complications (37%), birth asphyxia (19%),  neonatal sepsis (15%). World Health Statistics 2011 data: birth defects, pretem births and birth asphyxia together account for 35% to 55% of under-5 mortality. Birth Defects account for 3% to 20% U5MR, (Myanmar 3%, Thailand 20%, Indonesia around 10%). As management for preterm, infection and asphyxia -three major causes of neonatal deaths- improve, the child mortality levels decline and ensued the causal factor of mortality shift. In this situation we thought that birth defect was the important issue as a cause of neonatal mortality. Decrease in the mortality rate is not followed by a decrease in death due to congenital abnormalities. In other words, congenital abnormalities is still a challenge that must be faced in some countries (WHO-SEAR). The trends of figure under-5, infant and neonatal mortality rates in Indonesia from 1987 to 2012, during the last 10 years, the decline has been slowed  down, while NMR was stagnant.  As a result, the proportion of neonatal mortality to under-5 mortality is increasing from 30% in 1991 to 48% in 2012.  The etiology of neonatal mortality in Indonesia were preterm birth complication 45%, asphyxia 21%, sepsis 11%, diarrhoea, congenital abnormality, and pneumonia. Birth defects contributed 13% of neonatal death and third largest neonatal death (WHO, Cheng 2012, countdown to 2015 report). Three major problems in the neonatal period were obtained through RISKESDAS 2007 i.e asphyxia , premature and infections. Those neonatal problems take portions 46.2 % of the data  infant 0-11 months, despitefully in this data show a role of congenital abnormality around 5.7 %. A given time period birth defects/congenital abnormality problem is hidden and not be put forward. It might be caused by the opinion that all of this is something that cannot be changed at all. However after neonatal mortality rate has begun to shift down and difficult to move much farther away, it start arise as a problem which to be reckoned and are given the necessary attention for decreasing the infant mortality rate. Problems that arise will be higher if we also take the number of Stillbirth and ETOPFA (elective termination of pregnancy for fetal anomaly) into account. 

The terminology of birth defect is an abnormality of structure, function or metabolism (body chemistry) present at birth as the results of physical or mental disabilities or death. WHO report 2006, Health impact of birth defects are (1) Mortality: Serious birth defects can be lethal during newborn period and infancy, at least 3.3 million children under five years of age die from birth defects each year (global) (2) Disability: an estimated 3.2 million of those who survive may have lifelong mental, physical, auditory or visual disability. Contribution to foetal wastage (abortion, still births) is not known. Social and economic impact of birth defects: poor quality of life , lifelong impairment and diminished productivity, social stigma and discrimination, economic burden such as costly medical or surgical treatment (drugs, diagnosis and treatment),  transport to and from medical facilities, long-term care of the families, communities and health systems. In this era, birth defects are the leading cause of worldwide infant mortality, and affected children who survive infancy often struggle with lifelong physical and mental disabilities. Congenital defects arise for a variety of reasons: some defects are genetic, others are caused by environmental factors, and still others involve a combination of genetics and environment. Can anything be done to limit the frequency and impact of birth defects? In some cases -especially those that involve inherited conditions- the answer is no. However, in other cases, favorable prenatal environment and early treatment can prevent or reduce the phenotypic effects of birth defects, including a variety of defects that have a genetic basis. Although many birth defects cannot be prevented, the probability of some such conditions can be reduced through awareness of the effects of various prenatal factors, including nutrients, teratogens, and mutagens. Furthermore, early detection and/or treatment of congenital defects can sometimes reduce the long-term impact of these conditions, perhaps even alleviating them completely. As a medical staff and researchers learn even more about the environmental and genetic factors that contribute to birth defects, it is likely that they will continue to reduce the prevalence of these conditions, thereby improving the quality of life for millions of people throughout the world. State birth defects tracking programs provide one way to identify and refer children as early as possible for services they need. Early intervention is vital to improve outcomes for these babies. The goal of Birth Defects care is NOT survival alone, but survival with an acceptable quality of life.