Fetal Alcohol Syndrome
Introduction
Introduction to fetal ethanol syndrome Fetalalcoholicsyndrome (FAS) refers to the mother's alcoholism during pregnancy, which causes the fetus to grow and develop in the uterus and after birth. The main clinical features of fetal alcohol syndrome are: low intelligence, special face and various deformities. The main clinical features of fetal alcohol syndrome are: low intelligence, special face and various deformities. Fetal alcohol syndrome is incurable because damage to the central nervous system is permanent, but treatment is still possible. Because the central nervous system is damaged, symptoms, secondary disorders, and needs vary from person to person, there is no uniform treatment. Conversely, a comprehensive and multi-model approach based on patient needs can be effective. basic knowledge Sickness ratio: 0.0001% Susceptible population: pregnant women Mode of infection: non-infectious Complications: no brain, brain swelling and meningocele, hydrocephalus, hemangioma, hirsutism, infant neuroblastoma, adrenal tumor, appendix teratoma, septal defect, ventricular septal defect
Cause
Causes of fetal ethanol syndrome
Causes:
The toxic effects of ethanol on embryos are mainly three sides:
(1) In the middle and late pregnancy, the division, migration and function of the tissues of the fetus, especially the brain tissue, are restricted, and fetal growth retardation and FAE appear.
(2) Direct toxicity damage to early embryonic cell nuclear protein can cause infertility and spontaneous abortion.
(3) In the first 3 months of human pregnancy, it affects the metabolism, differentiation and proliferation of cells, interferes with the occurrence and formation of fetal organs, causes abnormal structure and morphology of multiple organ systems, and causes various types of FAS malformations.
(4) The hyperplasia of the placenta of a large number of alcohol-promoting mothers may affect the fetus indirectly, causing fetal dysplasia or deformity. In addition, fetal alcohol syndrome may also be related to the toxic effects of aldehyde, a metabolite of alcohol oxidation, on cells, leading to developmental disorders of fetal nerve cells.
Pathogenesis:
Although this fetal syndrome is undoubtedly associated with severe alcohol abuse in the mother, it is not clear what mechanism the effects of alcohol are. In humans and animals alcohol can pass through the placenta, although the effects of toxic effects of acetaldehyde and smoking and nutrient deficiencies cannot be completely ruled out, and embryotoxicity and teratogenic effects in mice, rats, chickens, miniature pigs and beagle dogs. It has been suggested that blood containing alcohol through the placenta and elevated prostaglandins caused by alcohol is a mechanism for alcohol damage to embryo growth and development, but it has not been confirmed.
A typical child with FAS is seen only in infants born to women who are extremely alcohol abused and who continue to drink alcohol throughout pregnancy (most have tremors and liver lesions). The limits of the degree of alcohol abuse in the mothers who develop FAS syndrome and the critical period of FAS during pregnancy remain unclear. It is estimated that the above various teratogenic effects occur in the embryonic phase, mostly within the first two months of embryonic development. Other non-teratogenic effects are associated with exposure to extra-high alcohol levels in pregnant embryos.
Prevention
Fetal ethanol syndrome prevention
Alcohol abuse among women of childbearing age is the only measure to prevent this disease. Medical workers, families, schools, and the society should strengthen publicity and education for young women. The study found that parents who abuse alcohol and their children are affected by heredity and family environment, and are extremely susceptible to alcohol abuse. In particular, early screening should be noted. Identify and take effective interventions. In particular, it is necessary to strengthen the pre-marital and pre-pregnancy health education, and it is too late to stop drinking after the known pregnancy. It is best for hospitals to routinely ask women about their drinking history during premarital examinations. Because there is no absolute limit for absolute safety, as long as you have a history of drinking, you should be advised to abstain from alcohol.
Complication
Fetal ethanol syndrome complications Complications No brain brain swelling and meningocele hydrocephalus hemangioma hirsutism infant neuroblastoma adrenal tumors appendix teratoma atrial septal defect ventricular septal defect
Fetal ethanol syndrome in addition to clinical manifestations of special facial signs, as well as multiple organ system malformations, the performance and degree of each child are not consistent. This may include the following aspects:
(1) Malformations in the central nervous system
There may be microcephaly, no brain, no forebrain, hole brain, meningocele, hydrocephalus, enlarged ventricles, enlarged medial septum, corpus callosum or hypoplasia, enlarged corpus callosum, brain Dry deformity, cerebellum and other deformities.
(2) skin deformities
There may be hemangioma, hirsutism, subcutaneous nodules, palmprint abnormalities, etc.
(3) Embryon tumor
Neuroblastoma, ganglion neuroblastoma, adrenal tumor, hepatic blastoma, teratoma teratoma.
(4) Cardiovascular malformations
There may be atrial septal defect, ventricular septal defect, large vessel ectopic, and tetralogy of Fallot.
(5) Malformations of the genitourinary system
Kidney deficiency, renal hypoplasia or malaise, horseshoe kidney, hydronephrosis, ureteral division, ureteral dilatation, bladder diverticulum, vesicovaginal fistula, hypospadias, labial insufficiency.
Symptom
Symptoms of fetal alcohol syndrome Common symptoms Fetal alcohol syndrome, saddle nose, rounded upper lip, thinning, brain penetration, malformation, nostril, or nostril, fetal alcohol, affecting heart malformation, sleep disorder
1. Appearance features
Insufficient growth
Mainly manifested as insufficient growth before and after birth, its body weight, body length, head circumference is less than normal, mostly moderate physical growth, and no chromosome or congenital metabolism, endocrine abnormalities or intrauterine infection, bone age is usually normal . The body growth process in the future is also always lower than normal. It is characterized by small head and small eyeball.
2. Special face
Typical features are short eye fracture, short nose, upturned nostril, flat nasolabial fold, thin upper lip, flat upper jaw; associated features are internal epithelium, ptosis, wide eye distance, nodular erythema, myopia, small Eyeball, low bridge of the nose, cleft lip, splitting, small teeth, malocclusion, sacral protrusion, posterior rotation of the ear, abnormal ear shell, small mandibular, mandibular retraction, etc.
3. Various other malformations
(1) Skin aspects
Hemangioma, hirsutism, subcutaneous nodules, palmprint abnormalities.
(2) Embryonic tumor
Neuroblastoma, ganglion neuroblastoma, adrenal tumor, hepatic blastoma, teratoma teratoma.
(3) muscle
, umbilical hernia, inguinal hernia, rectum prolapse.
(4) bones
Klippel-Fail syndrome, such as congenital cervical spine lack or fusion, short neck, limited neck movement, sternal eccentricity, thoracic valgus, scoliosis, hemi-spine, ulnar and ulnar joint fusion, flexor contracture, finger (toe) Bone bending, short finger 5, nail hypoplasia, funnel chest, knee abnormalities and limb dyskinesia.
(5) cardiovascular aspects
Atrial septal defect, ventricular septal defect, valvular heart disease, atrial septal defect, large vessel ectopic, tetralogy of Fallot.
(6) Extrahepatic bile duct atresia.
(7) genitourinary system
Renal hypoplasia or malnutrition, horseshoe kidney, hydronephrosis, ureteral division, ureteral dilatation, bladder diverticulum, vesicovaginal fistula, hypospadias, labial insufficiency.
Second, the central nervous system dysfunction
1. Abnormal manifestations of the central nervous system:
Microcephaly, no brain, no forebrain, hole brain, meningocele, hydrocephalus, enlarged ventricles, enlarged medial septum, corpus callosum or hypoplasia, enlarged corpus callosum, brain stem deformity , cerebellar malformation, olfactory brain deficiency, pons dysplasia, hypoglycemic hypoplasia, lack of hippocampus commissure, decreased white matter, heterogeneous nerve cell population around the lateral ventricle, glial cell migration disorder.
2. Early manifestations were hyperactivity, crying, irritability, poor suction, trembling, restless sleep, excessive appetite, excessive sweating, and a few visible convulsions. Most of the future manifested as motor and mental retardation and abnormalities, such as hyperactivity, tremor, abnormal muscle tone, gripless force, uncoordinated eyes, slow movement and incoordination, difficult to complete precise movements; intelligence scale at different ages The upper part is mild to moderate IQ, the concentration is difficult to concentrate and easy to disperse, the sense of sight, hearing and language is poor, and there are different levels of education and learning difficulties in school age.
Examine
Fetal ethanol syndrome test
1. Imaging examination
Magnetic resonance imaging (MRI), CT, B-ultrasound, etc. are helpful for finding malformations of the brain, heart, and urinary tract. In particular, attention should be paid to the observation of the midline of the brain.
2. Laboratory examination
(1) Traditional test methods include mean red blood cell volume (MCV), serum -glutamyltranspeptidase (-GT), aspartate aminotransferase (AST), glutamate dehydrogenase (GDH), uric acid Salt (urate), etc., their specificity is 84% to 99%, but the sensitivity is very low, 2% to 33%, respectively, so it is not used for routine screening.
(2) using the quadruple method, that is, simultaneous detection of MCV, -GT, whole blood with acetaldehyde (WBAA) and glycoprotein transferrin (CDT), where the average daily intake of ethanol 30 ml, at least One of the mothers who were positive and 2 positives had a significantly smaller body length, weight, and head circumference than those who were negative. The mother who had a clear history of drinking could be further examined. The limitation is that only a history of alcohol abuse has been discovered in the near future.
American researchers have found that the fatty acid ethyl ester contained in the fetus's fetus is a very reliable biomarker that shows how much the fetus is exposed to the alcohol environment. This biomarker can also be used to study alcohol in the fetus. The influence on the brain during development.
When people drink alcohol, alcohol will combine with certain fatty acids in the body to form fatty acid ethyl esters. These biomarkers will deposit in human tissues and will also be present in fetal urine or fetus during fetal development. Fetal stools are collected. A dark green dregs in the small intestine of the abdomen that is excreted when the fetus is born or near birth.
Prenatal B-ultrasound may reveal some obvious deformities.
Diagnosis
Diagnosis and identification of fetal ethanol syndrome
Mainly according to the mother's history of alcohol abuse during pregnancy, children with mental retardation and special face, prenatal and postnatal developmental stagnation and other parts of the deformity and other performance, can be diagnosed.
If the child has only partial manifestations of the syndrome, the mother is a serious drinker, the diagnosis is more difficult, there is no comprehensive development of FAS syndrome, called fetal alcohol, the incidence is more difficult to determine.
Differential diagnosis
1. Identification with Noonan syndrome
Noonan syndrome is an autosomal dominant hereditary disease that is sporadic in the family. Mothers have no history of alcohol abuse. In addition to the similarities with fetal ethanol syndrome, there are often the main features of neck sac, posterior hairline, myopia, round vertebrae, small penis, cryptorchidism, etc. .
2. Identification with Delange syndrome
The disease may occur in the q2529 region of chromosome 3, and some characteristics of fetal ethanol syndrome may occur, but the mother has no history of alcohol abuse; the most obvious difference with fetal ethanol syndrome is short arm, small hand, small foot, Less finger (toe) and other deformities, other such as cryptorchidism, small penis, thick eyebrows, commissure eyebrows, eyelashes, marble skin, pale mouth, lack of expression, stereotypes, etc. all help identify.
3. Identification with congenital metabolism and endocrine diseases
With some congenital metabolism, endocrine diseases such as phenylketonuria, hypothyroidism, etc., through medical history and clinical manifestations and laboratory tests, can be identified.
