■ Pregnant women: prenatal examination to prevent fetal malformation
Nowadays, fewer people do premarital check-ups, so the importance of prenatal check-ups is self-evident. Most children's congenital diseases are discovered when their mothers are pregnant. Chief physician Mu Shigang, who has been engaged in prenatal examination for many years, told the reporter that there are many factors leading to fetal malformation, such as pregnant women with hereditary high-risk factors, pregnant women over 35 years old, people with family history or having deformed children before, couples with congenital defects, couples with diabetes, exposure to pesticides and other chemical factors, alcoholism, taking contraceptives, antiepileptic drugs, maternal infection during pregnancy, etc., which may all cause congenital diseases of children. Screening is a necessary experiment for pregnant women before prenatal diagnosis. Through prenatal screening technology, high-risk groups can be screened out as soon as possible to prevent birth defects.
Prenatal check-up: Check-up of different items in the hospital at1-14 weeks, 18-24 weeks, 30-34 weeks and 38-40 weeks.
Main screening items: Down syndrome and neural tube defects (preferably in 15~ 19 weeks). ■ Newborns: Early detection of disease screening The person in charge of the genetic diagnosis room of a hospital reported that the department receives several defective newborn babies every month, among which there are many congenital fools. Among the causes of birth defects, genetic factors account for about 25%, and environmental factors account for about 10%. In order to find children's diseases early, it is necessary to screen newborns for diseases.
Newborn screening refers to screening some serious congenital metabolic diseases and endocrine diseases through blood tests, so that they can be diagnosed early before clinical symptoms appear or when their biochemical and hormonal changes are obvious. Therefore, early treatment can be carried out to avoid irreversible damage to important organs such as brain, liver and bone, which will lead to death or backwardness in growth and intellectual development.
At present, there are hypothyroidism and phenylketonuria in neonatal screening in our province. Blood should be collected 48~72 hours after birth and lactation, otherwise there will be no protein load and phenylalanine in blood will not rise, which will easily lead to false negative. When screening for congenital hypothyroidism (CH), thyroid stimulating hormone (TSH) in blood is mainly determined. If the blood is found too late, it may cause mental retardation. Symptoms are not obvious at birth, but gradually appear after a few months. Timely and early treatment, except for a few difficult cases, the physical and intellectual development of most children will reach basically normal.
Important screening items: hypothyroidism and phenylketonuria.