Inborn malformation (birth-defect) is any persistent anatomical deviation in development of organ or part of the body. It is caused by teratogenic factors or genetic mutations. Causes of intrauterine fetal anomalies. All the known causes of the development of inborn fetal abnormalities can be divided into two groups:
Hereditary (pathology is transferred to a child with a mutated genes from either one or both of the parents).
Occurring due to the teratogenic factors:
- Consumption of medicine (uncontrolled consumption of particular kinds of medicine may lead to various malformations of development).
- Mothers harmful habits ( smoking, alcohol, drugs)
- Infection deceases (measles, rubella, cytomegalovirus)
- Exposure of ionizing radiation
- Exposure of the chemicals (benzene, mercury)
- Mechanical factors (tumors of the uterus, malposition of the fetus)
- Injury that took place during the first trimester
- Occupational hazards affecting
Classification of inborn malformations of fetal development.
There are several classifications of inborn abnormalities of the fetus known nowadays
- According to the cause.
- According time period
- According to intensity
- According to frequency
- According to the spreading in the body
- According to the anatomical feature
Classification of the inborn abnormalities according to the cause of development.
- Hereditary – Appear as a result of changing in genotype of sex cells.
- Teratogenic – Are caused by influence of harmful factors during various periods of pregnancy.
- Multifactorial – Caused by both hereditary and teratogenic factors.
- Abnormalities without any particular cause.
Classification of malformations according to the time of appearance.
- Gametopathies. Appear as a result of sperm cells abnormalities, aging of the ovules, or mutations of the sex cells (chromosome or genetic deceases)
- Blastopathies. Develop during two weeks after fertilization.
- Embryopathies. Develop during the period since 2-8 weeks the pregnancy began.
- Fetopathies. Appear during the 9th week of the pregnancy till the child-birth. (Cryptorhysm, organs hypoplasia)
Classification according to the degree of difficultness of the development malformation.
- Moderately – severe. To such malformations carried abnormalities that require treatment but is not dangerous to the life of the child and does not affect his life.
- Severe. Malformations that require immediate treatment as might be dangerous for child life.
- Lethal. Development malformations that are not incompatible with survival.
Classification according to frequency.
- ( 1 or more out of 1000 pregnant)
- Moderately-frequent. ( up to 10 cases out of 1000)
- ( up to 10 cases out of 100000)
- Very rare ( less than 10 cases out of 100000)
Classification according the spreading in the body.
- Isolated ( abnormality of only one organ)
- System ( combination of several malformations in one system)
- Multiple ( combination of several organ malformations in various systems)
Classification according to the anatomical feature.
- Malformations of the respiratory system;
- Malformations of the nervous system;
- Malformations of the cardiovascular system;
- Malformations of the digestive system;
- Malformations of urinary system;
- Malformations of reproductive system;
- Malformations of muscle-skeletal system;
- Palatal and labial malformations;
- Malformations of neck, face, ears and eyes;
Common birth defects (Ascending)
|Development abnormality and definition||Main symptoms||Treatment||Prognosis for living and health|
|Agenesis of lungs (pulmonary) The complete absence of one of the lungs and main bronchus.||Dead-birth with the absence of both lungs. Signs of respiratory distress (shortness of breath at rest, cough), susceptibility to inflammatory diseases due to the absence of one lung.||No specific treatment exists. Supportive therapy (additional oxygen inhalation, antibiotics)||In the absence of both lungs, the fetus is not viable. When aplasia of lung prognosis is variable (depending on the development of complications)|
|Kidney agenesis. The complete absence of one or both of the kidneys.||Stillbirth in the case of absence of both kidneys. Signs of kidneys failure in case of kidney aplasia.||Surgical treatment ( kidney transplantation)||In the case of agenesis of both kidneys, the fetus is not viable. In case one kidney aplasia, everything depends on the treatment efficiency.|
|Acrania. Partial or complete absence of the skull bones, skin and abnormal brain development||Pronounced outward signs||No treatment exists||A fetus is not viable.|
|Albinism. The inborn absence of pigment melanin in the skin, hair and iris of the eye.||The white color of the skin, hair, red iris of the eyes, vision defects.||Specific treatment does not exist. It is recommended to avoid sun radiation.||If all prescriptions are followed the prognosis is positive.|
|Anencephaly. The complete absence of cerebral hemispheres.||Deformation of skull bones, the absence of the brain||Specific treatment does not exist||The fetus is not viable and the abortion is prescribed at any period of pregnancy|
|Aproctia. The absence of anus hole.||Visual symptoms. Symptoms of intestinal obstruction in a few hours after feeding||Surgery||The prognosis may be positive in case the treatment took place in time|
|Esophageal atresia. Inborn obstruction of the esophagus||The lack of cross-probe|
Signs of respiratory failure
|Surgery||The prognosis may be positive in case the treatment took place in time|
|Down syndrome. Chromosomal abnormalities, leading to the rejection of the physical and mental development in different degrees of severity||Delayed mental and physical development. Characteristic appearance||Specific treatment does not exist||Increased susceptibility to many diseases. If the proper teaching is performed partial compensation of mental abilities may take place|
|Cleft palate.||External signs|
inability to suck
|Surgery should be performed not earlier than a child turns 6 months||If the treatment is adequate and is performed at right time the child considered completely cured|
|Inborn cloaca. The merging of the rectum, vagina, urethra into one channel||External signs||Surgery||The results can be various. In the severe form, incontinence may still take place|
|Congenital dislocation of the hip|
Congenital deficiency of the hip joint
|The asymmetry of the hip skin folds.|
The shortening of the leg.
Limitation of hip abduction.
Positive slipping symptom
|Wide diapering, wearing tavern, surgery||If the treatment is performed in time the prognosis is positive|
|Inborn cretinism. A significant delay of mental and physical development due to lack of thyroid hormones.||Stunting (dwarfism, disproportionate body)|
Mental retardation up to the idiocy
|Lifelong thyroid hormone treatment||If the treatment is performed on earlier stages the prognosis is positive enough, but the complete recovering does not take place|
|Inborn megacolon (Hirschsprung’s disease)|
Pathological thickening and lengthening of the large intestine
|Conservative treatment (diet, laxatives, enemas),|
|Prognosis depends on the degree of abnormalities and the efficiency of the treatment|
|Inborn heart defects|
Anomalies in the structure and development of the heart and great vessels
|Depends on the degree of damage||Surgery||Prognosis depends on the type of the defect and on the efficiency of treatment|3