Birth problems – or by according to the World Health Company's (WHO) term: inherited flaws – are architectural, efficient and/or biochemical-molecular problems present at beginning whether recognized at that time or not (Figure 1). Among different groups of beginning problems, inherited irregularities, i.e. structural-morphological problems signify the biggest one.
Congenital irregularities can be separated into three groups:
Lethal if the problems (such as anencephaly or hypoplastic left heart syndrome) cause stillbirth (late baby death) or baby deaths or child birth are ended after the prenatal analysis of baby problems in more than 50% of cases.
Severe if the problems (such as cleft lip or inherited pyloric stenosis) without healthcare involvement cause disability or deaths.
Mild if problems (such as inherited dislocation of the hip or undescended testis) require healthcare involvement but life span is good.
Lethal and serious problems together signify significant inherited irregularities.
Minor flaws or morphological versions (such as epicanthal creases, ocular hypotelorism, preauricular labels and sets, low-set hearing, simian wrinkle, clino- and camptodactyly, limited syndactyly between feet 2 and 3, hydrocele, umbilical hernia, sacral dimple, etc) without serious healthcare or cosmetic repercussions are omitted from the type of inherited irregularities.
In general we cannot measure the occurrence of inherited irregularities due to the prenatal loss of fetuses such as blighted ova, miscarriages and ectopic child birth. Thus we used the phrase beginning (live- and stillbirths) occurrence in the past. However, recently the different methods of prenatal determines have been used widely for the recognition of baby problems and child birth are frequently ended if the unborn infant is seriously impacted. Thus, the amount of problems is measured for useful children such as stay born babies, stillborn fetuses, and prenatal clinically diagnosed and ended impacted fetuses and the phrase complete (birth and fetal) occurrence of inherited irregularities is used. Of course, the complete occurrence of inherited irregularities relies on the variety of inherited irregularities analyzed, the interval of research (only at beginning or in early neonatal interval or prenatal or the whole baby interval are included), the completeness of ascertainment, the analytic skill of experts, market and inherited features of the research population, etc.
The causes of inherited irregularities can be classified into three primary groups:
Genetic such as genetic aberrations (e.g. Down syndrome) and Mendelian single-gene problems (e.g. achondroplasia or Holt-Oram syndrome). The percentage of inherited source is approximated about 25 % of complete inherited irregularities. Mainly two circumstances may give rise to a higher complete occurrence of inherited irregularities with inherited origin: women having a baby after 35 years of age and great amount of consanguineous weddings.
Environmental such as contagious illnesses (e.g. rubella), expectant mothers illnesses (e.g. diabetes or illnesses with great fever), teratogenic drugs, alcohol, smoking and ecological contaminants. The percentage of ecological source may be about 15% of complete inherited irregularities.
Complex (multifactorial) source caused by gene-environmental connections when the so-called polygenic responsibility (predisposition) is activated by ecological 'risk' factors. Most common inherited irregularities (such as separated neural-tube problems, orofacial clefts, heart malformations, inherited pyloric stenosis, inherited dislocation of the hip, undescended testis, hypospadias, etc) are part of this etiological team. The percentage of complicated source is approximated about 60% of complete inherited irregularities, if inherited irregularities with unknown source are also involved in this team.
Congenital irregularities have two primary healthcare characteristics: problem circumstances with a limited chance for complete restoration and the first (fetal-birth) beginning. Thus, there is only one maximum healthcare solution and it is the avoidance.
