What is the next step for high risk of Down screening?

One pregnant mother had a Down screening and the result was high risk, then she broke down in tears and asked what to do. This is not an uncommon situation. Dear moms, did you have your screening? If you have a high risk result, does it feel like the sky is falling? Don’t be nervous, today to tell you how to do. Down screening is the abbreviation for prenatal screening for Down syndrome. The purpose is to determine the risk of the fetus having Down’s syndrome by testing the blood of the pregnant woman. What we now call Down’s syndrome screening, accurately referred to as prenatal screening, screens for three main target diseases, trisomy 21 (Down’s syndrome), trisomy 18 (Edward’s syndrome), and open neural tube defects. Trisomy 21 (Down syndrome), with an incidence of 1/700-1/800, Trisomy 18 (Edward syndrome), with an incidence of 1/6000-1/8000, and open neural tube defects, with an incidence of 1/1000-1/2000. First, the doctor will do a detailed genetic counseling for the mother-to-be on the dangers of screening target diseases, such as Down syndrome. After that, the mother-to-be decides whether to opt for the screening herself and needs to sign an informed consent form. The doctor will then confirm some basic information with the mother on the day of the blood collection (including date of birth, last menstrual period, weight, whether she has insulin-dependent diabetes, twin births, whether she smokes, history of abnormal pregnancies, etc.) and, if necessary, an ultrasound will be performed to ensure the accuracy of the gestational weeks. Since the calculation of the risk value for the screening test requires some correction based on the above information, it is important to fill out this information prior to the blood draw. The Down screening test can screen for 60-70% of children with Down’s syndrome. It is important to clarify that the screening test can only help determine the chance of the fetus having Down’s syndrome, but not whether the fetus has Down’s syndrome. This means that if the blood test is high, there is a higher chance of having a baby with Down’s syndrome, but it does not necessarily mean that the fetus has a problem. All young pregnant women under 34 years old should undergo Down’s syndrome screening, which can be done within 15-20 weeks of pregnancy, preferably between 16 and 18 weeks. Women who are older than 34 years old, have Down’s syndrome in their family, or have already had a child with Down’s syndrome are already at high risk, so they do not need to undergo Down’s screening and should instead undergo non-invasive DNA or amniocentesis testing or chorionic villus testing. At present, Down screening tests are performed to determine the concentration of alpha-fetoprotein (AFP) and human chorionic gonadotropin (β-hCG) in the blood of pregnant women, and to calculate the risk of having a child with Down’s syndrome by using a computer to calculate the risk for each pregnant woman in combination with her age. The normal value of alpha-fetoprotein should be 0.4-2.5 MoM, and the lower the value, the higher the chance of Down’s syndrome in the fetus. The higher the chorionic gonadotropin, the higher the chance of Down’s syndrome in the fetus. In addition, the doctor will enter the AFP and chorionic gonadotropin values, as well as the mother’s age, weight, and number of weeks of pregnancy into the computer, which will calculate the risk of Down’s syndrome in the fetus. If the test results show a risk of less than 1/270, the risk is low and the chance of the fetus developing Down’s syndrome is less than 1%. However, if the risk is higher than 1/270, the risk is higher and further amniocentesis or chorionic villus testing should be done. If the risk of Down’s syndrome is low, the mother is relieved, but if the risk is high, she is nervous. At this time, the pregnant mother must: 1) maintain a calm mood, because the result of Down screening is only a probability, not the final result of the test, the vast majority of fetuses through the review is no problem; 2) listen to the doctor’s advice, agree on the next step of the test, you can take non-invasive DNA, or amniocentesis; 3) wait for the test results at ease, optimistic face. So, the question arises again, should I choose non-invasive or amniocentesis for the recheck? This is based on the situation of the fetus and the pregnant woman, to assess a comprehensive. Amniocentesis is suitable for the following pregnant women: 1. family history (similar disease in close relatives); 2. history of carrying a deformed child; 3. one of the couple is a chromosomal disease patient; 4. ultrasound examination of the development of fetal abnormalities; 5. pregnant women with high collar, the first child is over 35 years old and the second child is over 40 years old. Non-invasive DNA is suitable for the following pregnant women: 1. Pregnant women who are not suitable for amniocentesis, including: central placenta praevia, RH-negative blood type, abnormal coagulation function, pre-eclampsia, history of recurrent spontaneous abortion, etc.; 2. No family history of similar diseases; 3. The age of the first child is below 34 years old. The difference between non-invasive DNA and amniocentesis is that the 99% accuracy rate of non-invasive is only for trisomy 21, trisomy 18 and trisomy 13, which are three common chromosomal disorders, while the 99% accuracy rate of amniocentesis analysis is for all chromosomal disorders. Please make a comprehensive assessment as to which one to use. Also be sure to be examined at a regular hospital.