Congenital malformations and chromosomal abnormalities of the fetus - Causes, Symptoms and Treatment .MF .

August 12, 2017 17:52 | Pregnancy And Childbirth

Under congenital anomalies implied pathology fetal development from fertilization to the onset of labor, and, depending on the timing of its occurrence, distinguish the following forms:

gametopatii (pathological changes in the germ cells, which occurred before fertilization, and which maylead to an unexpected termination of pregnancy, congenital malformations, hereditary diseases), blastopatii (damage zygote during the first two weeks after fertilization, leading to the death of the embryo, ectopic pregnancy, congenital malformations) embryopathy (damage to the fetus from the 15 days after fertilization to formplacenta - 75 day, there may be congenital malformations of individual organ systems, interruption of pregnancy), fetopathy (pathology, arising from 76 days before giving birth, manifested intrauterine growth retardation, congenital malformations, preserving the original organ location, underdeveloped organs, congenital diseasesas well as premature birth, asphyxia at birth).

Causes of malformations.

These reasons are very diverse.But most often it is the mother of the disease of various organs and systems, endocrine pathology, infectious diseases, such as chronic and existing prior to pregnancy, and those that have developed during pregnancy;Obstetric Pathology mother (abortion, which were before pregnancy, long-term threat of termination of pregnancy, especially in the early stages, long or heavy toxemia, etc).

also play a huge role environmental factors and other harmful effects on the pregnant woman and the fetus: physical (different light, temperature), chemical (products, industrial and household chemicals, medicines - more about them below, alcohol, nicotine and other drugs)biological factors (infection and toxins).Also plays an important role of hereditary factors (various chromosomal aberrations and gene mutations).

More note particularly important part of a balanced diet without deficiency not only the main food ingredients (proteins, fats, carbohydrates, minerals, vitamins), and micronutrients (trace elements, polyunsaturated omega - fatty acids and other) both during pregnancy andat the time of pregnancy planning.For example, iodine deficiency in women before conception and in early pregnancy can cause fetal hypothyroidism, disorders of brain development.

Risk factors and possible pathology of newborn, maternal:

  • age over 35 years - chromosomal abnormalities, intrauterine growth retardation;
  • age younger than 16 years - prematurity;
  • low socio-economic status - prematurity, intrauterine growth retardation, infection;
  • folic acid deficiency - congenital malformations;
  • smoking - intrauterine growth retardation, increased prenatal mortality;
  • use of alcohol or drugs - intrauterine growth retardation, fetal alcohol syndrome, the syndrome, sudden death syndrome;
  • diabetes - stillbirth, a large body weight, congenital malformations;
  • thyroid disease - goiter, hypothyroidism, thyrotoxicosis;
  • kidney disease - intrauterine growth retardation, stillbirth, nephropathy;
  • lung disease and heart - intrauterine growth retardation, prematurity, congenital heart disease;
  • hypertension - intrauterine growth retardation, asphyxia;
  • anemia - intrauterine growth retardation, stillbirth;
  • polyhydramnios - congenital kidney development of the central nervous system, gastrointestinal tract;
  • low levels of estriol in the urine - intrauterine growth retardation;
  • bleeding - prematurity, stillbirth, anemia;
  • infections, particularly toxoplasmosis, rubella, herpes - intrauterine growth retardation, congenital malformations, encephalopathy, pneumonia.

the part of the fetus:

  • multiple pregnancy - prematurity, transfusion fetofetalnaya asphyxia;
  • intrauterine growth retardation - asphyxia, stillbirth, congenital malformations;
  • fetal abnormalities previa - a trauma, hemorrhage, congenital malformations.

in childbirth:

  • prematurity - asphyxia;
  • delayed delivery (for 2 or more weeks) - stillbirth, birth asphyxia;
  • prolonged labor - stillbirth, birth asphyxia;
  • prolapsed cord - asphyxia.

placental anomalies:

  • small placenta - intrauterine growth retardation;
  • large placenta - fetal hydrops, heart failure;
  • premature detachment of the placenta - blood loss, anemia;
  • placenta previa - blood loss, anemia.

Effect on Fetus and Newborn drugs used by women during pregnancy:

aloe increases peristalsis, aminoglycosides (streptomycin, gentamicin, kanamycin, etc.) have a toxic effect on the ear and kidney, androgens cause various malformations, antihistamineslower blood pressure, cause tremors, indirect anticoagulants cause nasal hypoplasia, disrupt fetal bone formation can cause encephalopathy, atropine inhibits breathing, barbiturates can cause minor brain dysfunction, drugs belladonna - tachycardia, means lowering the pressure - impair blood flow between the child and the placenta, diazepam -muscular hypotonia, hypothermia, apnea, cleft lip and nose, isoniazid - convulsions, indomethacin - pulmonary hypertension, premature closure of the ductus arteriosus, corticosteroids - encephalopathy, depression fetal adrenal function, caffeine - liver damage, xanthine - tachycardia, lithium - lethargy, birth defectsheart, magnesia burnt - kidney damage, nitrofurans - hemolysis, obzidan - lengthening delivery, opiates - respiratory depression, minor cerebral dysfunction, anticonvulsants - intrauterine growth retardation, malformations, reserpine violates nasal breathing, salicylates - bleeding, seduksen cause respiratory depression,lowers blood pressure, theophylline - violates the blood clotting, phenothiazines - muscle hypotonia, tetracyclines - multiple anomalies of the bones and the skeleton.

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

  • the third week of pregnancy, the fetus may develop ectopic heart, umbilical cord hernia, congenital absence of limbs, fusion feet;
  • in the fourth week after fertilization can occur hernia umbilical cord, congenital absence of feet, tracheoesophageal fistula, gemivertebra;
  • the fifth week of development - tracheoesophageal fistula, gemivertebra, central cataract, microphthalmia, facial bones splitting, lack of hands and feet;
  • the sixth week - no hands and feet, microphthalmia, congenital absence of the lower jaw, hrustalikavaya cataract, congenital heart defects (partitions and the aorta);
  • seventh week - congenital heart disease (interventricular septum, pulmonary artery), the lack of fingers, cleft palate, micrognathia, epicanthus, round head;
  • the eighth week - congenital heart defects (atrial septal defect), epicanthus, round head, the absence of the nasal bone, the shortening of the fingers.

As you can see, the causes themselves anomalies can be very diverse.

diagnosis of congenital anomalies.

main objective diagnosis during pregnancy is to identify chromosomal abnormalities or fetal malformations.There are many diagnostic medical genetic methods for detection of certain defects is non-invasive methods of diagnosis:

  • ultrasonic method of research (which is carried out for all pregnant women not earlier than 3 times during pregnancy: 10-12 weeks, 2022 weeks, 30-32 weeks, and you can diagnose antsefaliyu, undivided fruits, Amelia and many others),
  • determination of serum biochemical markers of different mothers: plasma protein A, human chorionic gonadotropin (ectopic pregnancy rate of increase of this marker willnot correspond to the norm, and change this hormone may indicate chromosomal disorders), alpha-fetoprotein (increasing its level increases the risk of open defects of the central nervous system, while reducing its level of possible risk of Down's syndrome), estriol (it should increase with pregnancy).

invasive include:

  • chorionic villus sampling (sampling of the cells of the ovum to the study, conducted at 11 - 12 weeks, revealed a genetic abnormality),
  • amniocentesis (sampling the amniotic fluid in the first trimester of pregnancy is detected adrenal hyperplasiain the second trimester - chromosomal pathology, nervous system diseases),
  • platsentotsentez (study of the placenta particles, from 12 to 22 weeks, a genetic abnormality),
  • cordocentesis (blood sampling from the umbilical cord of the fetus for research revealed a blood disease, infection of the fetus),
  • fetal skin biopsy (for the diagnosis of possible diseases of the skin).

    radiation (X-ray, computed tomography, magnetic resonance imaging, radionuclide, ultrasound, angiography, and other), endoscopy (bronchoscopy, gastroscopy), and various blood tests,:

To diagnose abnormalities after birth, all known research methods can be appliedurine and other biological fluids, functional tests and multiple tests, genetic, molecular, immune techniques and much, much more.As for the anomalies of different systems and organs will require different methods of investigation.

Indications for abortion.

various malfunctions of organs and systems of the mother may be cause for termination of pregnancy, and this is not only a risk to the health and life of the mother, but also for the future of the child, since these diseases and their treatment may affect it.But the final decision is always individual.

Here are some diseases that can cause abortion:

infectious (active tuberculosis, severe forms of viral hepatitis, syphilis, rubella), malignant neoplasms (almost all, they are not the only indication for the interruption, but a contraindication to pregnancy in general), endocrine disorders (severe thyrotoxicosis, uncompensated hypothyroidism, severe diabetes), diseases of the blood and blood-forming organs (aplastic anemia, hemoglobinopathies, leukemias), neurological diseases (multiple sclerosis, myasthenia gravis), eye diseases (diseases of the optic nerve and retina), diseases of the cardiovascular system (deep venous thrombosis, thromboembolism, valvular heart disease), kidney disease (acute glomerulonephritis, urolithiasis), diffuse connective tissue diseases, gynecological diseases, obstetric indications (gestational trophoblastic disease, excessive vomiting in pregnancy, preeclampsia, unrecoverabletreatment, congenital and hereditary diseases that are diagnosed during pregnancy, high risk of having a child with a congenital, hereditary diseases).

But it should be noted that therapeutic abortion necessarily require the consent of the patient.

At detection of any fetal malformations, pregnant she decides to keep the pregnancy or have an abortion.

prevention of congenital anomalies.

where the main event should be a family planning and pregnancy.The quality of this event depends not only on the success of the conception, but the development itself of pregnancy, childbirth and child health throughout his later life.It should be tested for the presence of sexually transmitted diseases, the presence of latent infections, to identify all possible chronic diseases, not only for the expectant mother, but the father, undergo genetic testing (to find out what may appear the disease in a child, to identify different genetic diseases in earlier generations).

course, a major factor in the development of healthy, high-grade fruit is a healthy way of life, not only during pregnancy but also before its onset.Refusal of bad habits, nutrition, elimination of all harmful factors of physical, chemical and biological nature.Early treatment of existing disease to avoid complications during pregnancy.During the pregnancy itself has to pass the necessary examinations for early detection of any deviation in the normal development of the fetus.