Congenital abnormalities and chromosomal abnormalities of the fetus

As , the congenital anomaly of is the pathology of embryo development from the moment of conception to the onset of labor and, depending on the timing of its onset, the following forms are distinguished:

gametopathies( pathological changes in germ cells that occurred before fertilization and which can lead to an unexpectedinterruption of pregnancy, congenital malformations, hereditary diseases), blastopathy( damage to the zygote in the first two weeks after fertilization, leading to the death of the embryo, vnemat), embryopathy( damage to the embryo from day 15 after fertilization to the formation of the placenta - day 75, congenital malformations of individual organs and systems may occur, termination of pregnancy), fetopathy( pathology that occurs from 76 days until delivery, manifested by a delay in intrauterine development, congenital malformations, preservation of the original arrangement of organs, underdevelopment of organs, congenital diseases, as well as premature birth, birth asphyxia).

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Causes of developmental anomalies.

These reasons are very diverse. But most often these are diseases of the mother of various organs and systems, endocrine pathologies, infectious diseases, both chronic and pre-pregnancy, and those that developed during pregnancy;obstetric and gynecological pathology of the mother( abortions that were before pregnancy, prolonged threats of abortion, especially in the early periods, prolonged or severe toxicosis, and others).

Ecological factors and other harmful effects on the organism of the pregnant woman and the fetus also play an enormous role: physical( different radiation, temperature), chemical( industrial and household chemicals, medicines - more about them below, alcohol, nicotine and other drugs), biologicalfactors( infection and their toxins).Also, the role of hereditary factors( various chromosomal aberrations and gene mutations) is great.

It should also be noted the especially important role of balanced nutrition without deficiency of not only basic food ingredients( proteins, fats, carbohydrates, minerals, vitamins), but also micronutrients( micronutrients, polyunsaturated omega-fatty acids, etc.) both during pregnancy andthe moment of pregnancy planning. For example, iodine deficiency in a woman before conception and in the early stages of pregnancy can lead to fetal hypothyroidism, impaired brain development. Risk factors and possible pathology of newborns, from the mother:

age over 35 years - chromosomal abnormalities, intrauterine growth retardation;
age younger than 16 years - prematurity;
low socioeconomic status - prematurity, intrauterine growth retardation, infection;
deficiency of folic acid - congenital malformations;
smoking - intrauterine growth retardation, increased prenatal mortality;
use of alcohol or drugs - intrauterine growth retardation, fetal alcohol syndrome, withdrawal syndrome, sudden death syndrome;
diabetes mellitus - stillbirth, large body mass, congenital malformations;
thyroid disease - goitre, hypothyroidism, thyrotoxicosis;
kidney disease - intrauterine growth retardation, stillbirth, nephropathy;
lung and heart disease - intrauterine growth retardation, prematurity, congenital heart disease;
arterial hypertension - intrauterine growth retardation, asphyxia;
anemia - intrauterine growth retardation, stillbirth;
polyhydramnios - congenital malformations of the kidneys, central nervous system, gastrointestinal tract;
low level of estriol in urine - intrauterine growth retardation;
bleeding - prematurity, stillbirth, anemia;
infection, especially toxoplasmosis, rubella, herpes - intrauterine growth retardation, congenital malformations, encephalopathy, pneumonia.

From fetal side:

multiple pregnancy - prematurity, fetofetal transfusion, asphyxia;
intrauterine growth retardation - asphyxia, stillbirth, congenital malformations;
anomalies of fetal presentation - trauma, hemorrhage, congenital malformations.

In childbirth:

premature birth - asphyxia;
delayed delivery( for 2 or more weeks) - stillbirth, asphyxia;
prolonged labor - stillbirth, asphyxia;
prolapse of the cord - asphyxiation.

Placental abnormalities:

small placenta - intrauterine growth retardation;
large placenta - edema of the fetus, heart failure;
premature placental abruption - blood loss, anemia;
placenta previa - hemorrhage, anemia.

Effect on fetus and newborn medications used by a woman during pregnancy:

aloe enhances intestinal motility, aminoglycosides( streptomycin, gentamicin, kanamycin and others) have toxic effects on the ear and kidneys, androgens cause various developmental anomalies, antihistamines lower blood pressure,cause tremors, indirect anticoagulants cause hypoplasia of the nose, disrupt the fetal bone formation, can cause encephalopathy, atropine depresses breathing, barbiturates can becomeother minor brain dysfunction, belladonna preparations - tachycardia, blood pressure lowering agents - worsen the blood flow between the baby and the placenta, diazepam - muscle hypotension, hypothermia, apnea, lip and nasal cleavage, isoniazid - seizures, indomethacin - pulmonary hypertension, premature closure of the arterial duct, corticosteroids- encephalopathy, suppression of adrenal function of the fetus, caffeine - liver damage, xanthines - tachycardia, lithium - lethargy, congenital heart defects, burnt magnesia - kidney damage, nitrofurans - hemolysis of erythrocytes, obzidan - lengthening of labor, opiates - depress respiration, small brain dysfunction, anticonvulsants - retardation of fetal development, malformation, reserpine disrupts nasal breathing, salicylates bleed, seduxen causes respiratory depression, lowers blood pressure, theophylline - disrupts blood coagulability, phenothiazines - muscle hypotension, tetracyclines - multiple anomalies of bones and skeleton.

Possible developmental defects, depending on the time of exposure of the above factors:

in the third week of pregnancy, the fetus can develop ectopia of the heart, a hernia of the umbilical cord, congenital absence of limbs, fusion of the feet;
on the fourth week from the moment of fertilization, there may appear a hernia of the umbilical cord, congenital absence of feet, tracheoesophageal fistula, gemivertebra;
at the fifth week of development - tracheoesophageal fistula, hemivertebras, central cataracts, microphthalmia, splitting of facial bones, lack of brush and foot;
in the sixth week - lack of brush and foot, microphthalmia, congenital absence of the mandible, lens cataract, congenital heart defects( septum and aorta);
the seventh week - congenital heart defects( interventricular septum, pulmonary artery), lack of fingers, cleft of the upper palate, micrognathia, epicanthus, round head;
on the eighth week - congenital heart defects( atrial septal defect), epicanthus, round head, absence of nasal bone, shortening of fingers.

As can be seen, the causes and the anomalies themselves can be very diverse.

Diagnosis of congenital anomalies.

The main task of diagnosis during pregnancy is to identify the chromosomal pathology or malformations of the fetus. There are many diagnostic medical genetic methods for recognizing one or other malformations, these are non-invasive diagnostic methods: the

ultrasound method of the study( which is performed by all pregnant women not earlier than 3 times during pregnancy: at 10-12 weeks, 20-22 weeks, 30-32 weeks, thus it is possible to diagnose ancephaly, undivided fruits, amelia and many others),
determination of various biochemical markers in the mother's blood serum: plasma protein A, human chorionic gonadotropin( with extra-mastitis(increase of its level increases the risk of developing open defects of the central nervous system, if its level is lower, the risk of Down's syndrome development is possible), estriol(it should grow with the course of pregnancy).

The following are invasive:

biopsy of the chorion( collection of a part of the cells of the fetal egg for the study, is carried out at the 11th-12th week, genetic pathology is revealed),
amniocentesis( fetal fluid extraction, in the first trimester of pregnancy, hyperplasia of the adrenal cortex is revealed, in the second trimester - chromosomal pathology, diseases of the nervous system),
placententesis( placenta particle study, 12 to 22 weeks, genetic pathology),
cordocentesis( fetal cord sampling for examination, blood diseases, infectionfetal s),
fetal skin biopsy( for diagnosis of possible skin diseases).

For the diagnosis of anomalies after birth, all known methods of research can be used:

radiation( radiography, computed tomography, magnetic resonance imaging, radioisotope, ultrasound, angiography and others), endoscopic( bronchoscopy, gastroscopy), various studies of blood, urine and otherbiological fluids, multiple functional tests and tests, genetic, molecular, immune methods and much, much more. Since anomalies of different systems and organs will require different methods of investigation.

Indications for abortion.

Various malfunctions in the functioning of the mother's organs and systems can cause interruption of pregnancy, and this is due not only to the risk to the health and life of the mother, but also to the future child, since these diseases and their treatment can adversely affect it. But the final decision is always made individually.

Here are some diseases that can cause abortion:

infectious( active form of tuberculosis, severe forms of viral hepatitis, syphilis, rubella), malignant neoplasms( almost all, they are not only an indication for interruption, but a contraindication to pregnancy in general),diseases of the endocrine system( severe form of thyrotoxicosis, uncompensated hypothyroidism, severe form of diabetes mellitus), diseases of the blood and blood-forming organs( aplastic anemia, hemoglobinopathies, l(diseases of the optic nerve and retina), diseases of the cardiovascular system( deep vein thrombosis, thromboembolism, heart defects), kidney disease( acute glomerulonephritis, urolithiasis), diffuse diseasesconnective tissue, gynecological diseases, obstetric indications( gestational trophoblastic disease, excessive vomiting of pregnant women, gestosis, non-treatable, congenital malformations and hereditary diseases thatiagnostirovali during pregnancy, high risk of having a baby with a congenital, hereditary diseases).

But it should be noted that abortion for medical reasons requires the consent of the patient.

If any fetal malformations are found, the pregnant woman makes a decision herself, to keep a pregnancy or to have an abortion.

Prevention of congenital anomalies.

Here the main activity should be family planning and pregnancy. The quality of this activity depends not only on the success of the conception itself, but also on the development of the child's pregnancy, childbirth and health throughout his later life. It is necessary to pass tests for the presence of sexually transmitted diseases, for hidden infections, to identify all possible chronic diseases, not only for the future mother, but for the father, to undergo genetic testing( to find out what diseases a child may have, to reveal various genetic diseases in previous generations).

Naturally, the main factor in the development of a healthy, full-fledged fetus is a healthy lifestyle, not only during pregnancy, but also before its onset. Rejection of bad habits, nutrition, exclusion of all harmful factors of physical, chemical, biological nature. Timely treatment of existing diseases to avoid complications during pregnancy. During the very pregnancy, undergo the necessary examinations, for the timely detection of any deviations in the normal development of the fetus.