Screening for Down’s syndrome, Down’s syndrome screening should be tested

(Disclaimer: This article is for general science purposes only, and the information in the following content has been processed to protect patient privacy) Abstract: Down syndrome is a disease caused by chromosomal abnormalities, and affected children may have low nasal root, lateral upward slanting of the eyes, mental retardation, and developmental delays. Down’s syndrome screening is an important part of prenatal diagnosis. A preliminary diagnosis can be made by doing Down’s syndrome screening during pregnancy, and the next tests can be done according to the preliminary diagnosis to make the final diagnosis. The patient in this case was at high risk for Down’s screening, followed by screening for noninvasive DNA, which was still high risk, and eventually decided to undergo intra-amniotic puncture to induce labor. [Basic information] Female, 30 years old [Type of disease] Down’s syndrome [Attending hospital] Guangzhou Huadu District People’s Hospital [Date of consultation] January 10, 2022 [Treatment plan] Intra-amniotic puncture to induce labor [Treatment period] 42 days [Treatment effect] Termination of pregnancy I. Initial interview January 10, 2022, 15 weeks of pregnancy G2P0, i.e., 2 pregnancies, 0 births, 2 years ago The last menstruation was on September 25, 2021, usually regular, with a cycle of 28-30 days once, clean in 3-5 days. Previously healthy, this time unexpected pregnancy, no smoking or drinking habits, spouse smokes and does not drink, no hereditary diseases in family history. The physical examination was normal, she could answer questions correctly, her body temperature was 36.5°C, her weight was 60 kg, her pulse was 86 beats/min, her respiration was 20 breaths/min, her blood pressure was 126/74 mm Hg. There was no anemia, her breathing was stable, her heart and lungs were not abnormal on auscultation, there was no enlarged liver or spleen on palpation, her fundal height was 15 cm, her abdominal circumference was 88 cm, her fetal heart rate was 142 beats/min, and her limbs were normally developed. At 12 weeks of pregnancy, the ultrasound showed a biparietal diameter of 2.2 cm and a femoral diameter of 0.7 cm, and she came to the hospital for obstetric examination and Down’s syndrome screening. After 1 week, the results showed a MOM value of 2.6 for alpha-fetoprotein and 2.5 for free beta-chorionic gonadotropin, both of which were considered high risk; a non-invasive DNA test or amniocentesis was recommended. The pregnant woman indicated that she needed to discuss the decision with her family. On January 20, 2022, the pregnant woman returned to the hospital to sign the protocol for the non-invasive DNA test and then had her blood drawn for laboratory tests, which showed a high risk. She was induced by amniocentesis with Levanox on February 3, 2022 and the dead baby boy was expelled in the early hours of the 5th. And the placental membranes were expelled and the uterus was cleared on the morning of the 6th and discharged on the 8th. The patient was discharged from the hospital with normal temperature, blood pressure, pulse and respiration, good uterine regeneration and little vaginal bleeding. III. Treatment effect Down’s syndrome screening and non-invasive DNA test can provide a reliable clinical diagnosis, so when the clinical diagnosis of Down’s syndrome is confirmed after the family signed consent, timely termination of pregnancy mainly uses intra-amniotic injection of Levanox, which first kills the embryo and then promotes the induction of uterine contraction, and with the continuous enhancement of uterine contraction, the pregnancy products are expelled from the uterus to fully achieve the desired effect. Although the process of inducing labor is painful for pregnant women, prenatal checkups performed on time can help screen out children with Down syndrome, terminate the pregnancy in time, reduce the birth of Down’s syndrome children, reduce the burden on society as well as on families, and fully achieve eugenic reproduction. The result of successfully preventing the birth of a child with Down syndrome and reducing the burden on the family of this patient is gratifying. In addition, the following matters should be noted: 1. It is recommended that the pregnant woman should fully strengthen her nutrition and pay attention to rest after her discharge from the hospital so that her body can recover as soon as possible, and keep her vulva clean to reduce the possibility of reproductive tract infection. Secondly, during her next pregnancy, she should not only pay attention to her diet, but also to avoid contact with toxic and harmful chemicals. 2, the next pregnancy should pay more attention to the maternity check-ups, strictly follow the doctor’s instructions to come to the hospital for regular maternity check-ups, once the abnormalities found during the maternity check-ups should be actively dealt with. V. Personal insight 1. importance of maternity checkups: every maternity checkup is very important for pregnant women, the whole pregnancy time is 280 days, during the 280 days, the fetus in the womb may have abnormalities at any time, so it is very important to have the maternity checkups on time; 2. screening tests: throughout the pregnancy screening tests, including Down’s syndrome screening and 4D ultrasound, no matter which test, it is recommended to pay enough attention to it. Once the abnormalities appear, further examination is needed; 3. timely stop: once the abnormal fetal development is found in the course of the screening examination, decisive treatment is carried out, and the family’s opinion is obtained to terminate the pregnancy as soon as possible.