Congenital Anomaly Clinical Trial
Official title:
Screening For Critical Congenital Anomalies In NICU And Their Out Come in Assiut Universty
The congenital malformation (CMF) include disturbance in normal process of organogenesis
occurring before birth .
- The (CMF) are structural ,functional, or (biochemical Molecular) defect presenting at
birth.
- The structural defect resulting from prenatal insult during period of embryogeneses.
- The neonate with congenital malformation have differences in physiology, anatomy, in
response to stress.
- The (CMF) are important causes of infant disability , illness, deaths.
- (CMF) classified into mild, moderate, severe and lethal
The (CMF) may be structural abnormalities with significant effect on function (e.g) cleft
palate .
Or minimal effect on clinical function but may have cosmotic impact (e.g) pre-auricular pit .
In developed countries, outcome of neonatal congenital anomalies is favourable because of
availability of antenatal diagnosis, improved surgical skills and technologies, sophisticated
neonatal intensive care unit, availability of total parenteral nutrition and adequate staff.
In developing countries, however, neonatal surgery is still fraught with a lot of problems
including late presentation and lack of medical facilities and human resources, thereby,
making newborn surgery to be associated with unacceptably high morbidity and mortality.
Due to the burden of other neonatal and childhood diseases in developing countries, neonatal
surgery is often considered low priority in healthcare budget planning and allocation.
- Effective live , saving medical treatment is available for survival birth defects with
functional disorders .
- Neonatal with birth defect may be further referred to appropriate level of medical ,
surgical facilities .
Risk factors:
- Unknown cause
- Preconception causes are genetic and partially genetic, originating mostly before
conception. Birth defects are due to abnormalities of the genetic material-chromosomes
and genes including chromosomal abnormalities, single gene defects and multifactorial
disorders (which are caused by the interaction of genes and the environment).
- Post-conception causes develop after conception, but before birth. Birth defect is
caused by an intra-uterine environmental factor. This includes teratogens that interfere
with normal growth and development of the embryo or foetus, mechanical forces that
deform the foetus, and vascular accidents that disrupt the normal growth of organs.
- Socioeconomic and demographic factors:
Congenital anomalies are more frequently seen among low income families and countries.
- Maternal age: advanced maternal age increases the risk of chromosomal abnormalities,
such as Down syndrome.
- Infections:
Some Maternal infections during pregnancy can increase the risk of birth defects such as:
Rubella infection (German measles-a viral infection) to pregnant mother can result in to
miscarriage, deafness, intellectual disability, heart defects and blindness in newborn.
Toxoplasmosis (disease caused by parasite found in soil) infection during pregnancy can cause
birth defects such as hearing loss, vision problems and intellectual disability.
Sexually transmitted infections (STIs): such as syphilis, cytomegalovirus can cause serious
birth defects.
Zika virus infection: during pregnancy can cause certain birth defects (microcephaly and
other abnormalities).
• Environmental factors: Maternal exposure to certain medications, psychoactive drugs,
tobacco, radiation and pesticides during pregnancy may increase the risk of congenital
anomalies in foetus or neonate.
Working or living near, or in, waste sites, smelters or mines may also be a risk factor.
Certain drugs when taken during pregnancy may cause birth defects; these drugs are called
teratogenic drugs (Category 'X' drugs). Categories 'X' drugs are contraindicated during
pregnancy. (Drugs are categorized into 5 categories according to the development of adverse
effects on the foetus, category A, B, C, D and X.)
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