Patient’s question: Disease: do not want to do puncture amniotic fluid, does it matter? Can you do the Down syndrome again Description: high risk 1/125. screening results positive, do not want to do puncture amniotic fluid, can you do the Down syndrome again? Yang Yandong, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Jinan University, replied: Let me tell you a true story. A few years ago, there was a patient who had a high-risk mid-pregnancy serology screening, which was also about 1:100 risk. Her husband was also a doctor, and I was working in the UK at that time, so he asked a friend to write me an email asking me what to do. I replied by doing amniotic fluid. We didn’t contact each other after that until half a year later when my friend wrote me an email to tell me that she had given birth to a Down’s baby at full term and that she died of pneumonia 2 months after birth. I was shocked. It turned out that the pregnant woman didn’t want to have an amniocentesis at the time, so she bounced around from hospital to hospital repeating the Down’s screening, both high risk and low risk, and she preferred to believe in the low risk at the time, reasoning that she was young and there was no family history in either family. For her second pregnancy, she came to me at 12 weeks gestation for a combined early pregnancy screening, ultrasound + serology, which came back low risk, but the fetus had an absent nasal bone. According to the British Fetal Medicine Foundation’s criteria, we do not recommend invasive prenatal diagnosis for nasal bone absence but low risk. At 20 weeks, I screened her for mid-pregnancy anomalies and the fetal structure was good but the length of the nasal bone was still not up to the mark for hypoplasia, so that’s when I advised her that she would need an amniocentesis. She and her husband were very cooperative this time, and the day I drew her amniotic fluid, the couple later told me how they felt: they were so nervous the first day before the procedure that they couldn’t sleep well, and when the wife went into the puncture room, the husband, who was quite anxious outside, went to the restroom, and then was ready to sit down and wait. Before he had a chance to sit down, his wife was already done and came out. Both couples thought, why would the first child be so torn up about such a simple amniocentesis? Three weeks later the results came back with a normal chromosomal karyotype. Now they have a healthy and lovely child. What I want to say about telling such a story is two things. First, Down’s syndrome screening is only a screening test, not a diagnosis. Repeated screening is only a screening test, especially when the detection rate of serologic Down’s syndrome screening in middle pregnancy is only about 60%. The detection rate of mid-pregnancy serologic Down’s syndrome screening is only about 60%. You need to be extra vigilant when you find out that you are at high risk, and it’s not advisable to take a chance. 2. Amniocentesis is not as scary as you think, although many data say that the miscarriage rate of amniocentesis is 0.5%-1%, the latest research shows that, aside from the fact that you will have a preterm miscarriage if you don’t have the procedure done, the rate of amniocentesis miscarriages will be much lower than that. A few years ago, in your situation, I would have strongly recommended that the pregnant woman have a puncture to confirm the diagnosis. However, the advent of non-invasive genetic screening has given us another option, but the indications must be strictly controlled. In your case, with a high risk of Down’s serology in mid-pregnancy, a detailed mid-pregnancy anomaly screening is needed at 20 weeks to rule out fetal structural anomalies, in addition to careful evaluation of soft indicators of fetal chromosomal abnormalities, such as: nasal bone, cervical skin thickening, long bones, and renal pelvis……. If the fetus has neither structural anomalies, nor soft indicators that are normal, you have the option of If the fetus has neither structural abnormality nor normal soft indicators, you can choose to undergo non-invasive genetic screening (drawing the mother’s blood), and if the latter passes (detection rate of 99%), you can continue the pregnancy with more confidence. However, if the fetus is found to have problems with structural or soft indicators, a targeted invasive prenatal diagnosis is needed.