Materiały źródłowe

• #1 Primary prevention of Down’s syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1168873/

  Background: Antenatal screening has the capacity to detect more than 90% of Down’s syndrome pregnancies leading to therapeutic abortion. Successes in recent years with such so-called 'secondary’ prevention have not been matched with progress in primary prevention. Despite considerable research over many decades the principle cause of the disorder is unknown. […] This paper considers three potential primary prevention strategies, (1) avoiding reproduction at advanced maternal age, (2) pre-implantation genetic diagnosis for couples who are at high risk of Down’s syndrome, and (3) folic acid supplementation. The principle aetiological hypotheses are also reviewed. […] A strategy of completing the family before a maternal age of 30 could more than halve the birth prevalence of this disorder.

• #2 Primary prevention of Down’s syndrome

  https://www.medsci.org/v02p0093.htm

  Antenatal screening has the capacity to detect more than 90% of Down’s syndrome pregnancies leading to therapeutic abortion. […] Despite considerable research over many decades the principle cause of the disorder is unknown. […] This paper considers three potential primary prevention strategies, (1) avoiding reproduction at advanced maternal age, (2) pre-implantation genetic diagnosis for couples who are at high risk of Down’s syndrome, and (3) folic acid supplementation. […] A strategy of completing the family before a maternal age of 30 could more than halve the birth prevalence of this disorder. […] Women with a high a priori risk should have access to pre-implantation genetic diagnosis, which can lead to a reasonably high pregnancy rate with an extremely low risk of a Down’s syndrome.

• #3 Down Syndrome: Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/17818-down-syndrome

  You cant prevent Down syndrome since its a genetic condition. […] To learn more about your risk of having a child with a genetic condition, talk to your healthcare provider about genetic testing.

• #4 Down syndrome – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977

  There’s no way to prevent Down syndrome. If you’re at higher risk of having a child with Down syndrome or you already have one child with Down syndrome, you may want to talk with a genetic counselor before becoming pregnant. […] A genetic counselor can help you understand your chances of having a child with Down syndrome. The counselor also can explain the prenatal tests that are available and help explain the pros and cons of testing.

• #5 Down syndrome Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/down-syndrome

  Experts recommend genetic counseling for people with a family history of Down syndrome who wish to have a baby. […] A woman’s risk of having a child with Down syndrome increases as she gets older. The risk is significantly higher among women age 35 and older. […] Couples who already have a baby with Down syndrome have an increased risk of having another baby with the condition. […] Tests such as nuchal translucency ultrasound, amniocentesis, or chorionic villus sampling can be done on a fetus during the first few months of pregnancy to check for Down syndrome.

• #6 Primary prevention of Down’s syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1168873/

  Women with a high a priori risk should have access to pre-implantation genetic diagnosis, which can lead to a reasonably high pregnancy rate with an extremely low risk of a Down’s syndrome. […] The evidence suggesting an aetiological role for defective folate and methyl metabolism is not sufficient to justify an active preventative strategy of folic acid supplementation without performing a large clinical trial. Current supplementation policies designed to prevent neural tube defects may incidentally prevent Down’s syndrome, provided a sufficiently high dose of folic acid is used. […] Further progress in primary prevention is hampered by limited aetiological knowledge and there is an urgent need to refocus research in that direction. […] From the beginning of their reproductive life women have the option to reduce the DS risk by completing their family by age 30. On a population level this strategy could more than halve the birth prevalence of this disorder.

• #7 Down Syndrome Prevention | Can Down Syndrome be prevented

  https://www.patientsengage.com/conditions/down-syndrome/prevention?page=5

  You can do nothing to prevent Down’s syndrome. If you already have a child with Down’s syndrome, you are definitely at high risk of having another child with Down syndrome. You may want to consult your gynaecologist or genetic counselor before becoming pregnant again. […] Your gynaecologist or a genetic counselor can help you understand your chances of having a child with Down syndrome. He or she can also explain the prenatal tests that are available and help explain the pros and cons of testing. […] Similarly if you are slightly older, your risk factor increases. You should consult a gynaecologist before becoming pregnant.

• #8 Down Syndrome: Symptoms, Causes And Warning Signs To Look Out For

  https://www.thehealthsite.com/diseases-conditions/down-syndrome/

  Down syndrome cannot be prevented; however, parents can take measures to reduce the risk of the disorder in children. Since the age of the women at the time of pregnancy is a potential risk factor, women can reduce the risk by planning the pregnancy before the age of 35 years. […] Women who are at risk of having a child with Downs syndrome are usually referred to a genetic counsellor. They will explain the risk of future pregnancies and discuss the various diagnostic tests that are available to detect the disorder. […] Down syndrome has no cure and prevention is only possible through prenatal screenings and diagnosis. Know more about this developmental disorder.

• #9 Primary prevention of Down’s syndrome

  https://www.medsci.org/v02p0093.htm

  The evidence suggesting an aetiological role for defective folate and methyl metabolism is not sufficient to justify an active preventative strategy of folic acid supplementation without performing a large clinical trial. […] Current supplementation policies designed to prevent neural tube defects may incidentally prevent Down’s syndrome, provided a sufficiently high dose of folic acid is used. […] Further progress in primary prevention is hampered by limited aetiological knowledge and there is an urgent need to refocus research in that direction. […] From the beginning of their reproductive life women have the option to reduce the DS risk by completing their family by age 30. […] Women with a high a priori DS risk because of an inherited translocation or a previous pregnancy with a non-inherited form of DS should have access to PGD.

• #10 How to Prevent Down Syndrome During Pregnancy

  https://ivfpatiala.com/how-to-prevent-down-syndrome-during-pregnancy/

  Managing Existing Health Conditions: Women with certain health conditions, such as diabetes, obesity, or thyroid disorders, may be at an increased risk of having a child with Down syndrome. Managing these conditions before and during pregnancy can help reduce the risk. […] During IVF treatment, there are several strategies to reduce the risk of having a child with Down syndrome. […] Preimplantation Genetic Testing (PGT): PGT which involves screening embryos for chromosomal abnormalities, including Down syndrome, before they are transferred to the uterus. This screening helps select embryos that are free of such abnormalities, increasing the chances of a successful pregnancy and reducing the risk of having a child with Down syndrome. […] Donor Egg or Sperm: Using donor eggs or sperm from screened donors can reduce the risk of passing on chromosomal abnormalities, including Down syndrome.

• #11 Primary prevention of Down’s syndrome

  http://www.medsci.org/v02p0093

  Antenatal screening has the capacity to detect more than 90% of Down’s syndrome pregnancies leading to therapeutic abortion. […] This paper considers three potential primary prevention strategies, (1) avoiding reproduction at advanced maternal age, (2) pre-implantation genetic diagnosis for couples who are at high risk of Down’s syndrome, and (3) folic acid supplementation. […] A strategy of completing the family before a maternal age of 30 could more than halve the birth prevalence of this disorder. Women with a high a priori risk should have access to pre-implantation genetic diagnosis, which can lead to a reasonably high pregnancy rate with an extremely low risk of a Down’s syndrome. […] The evidence suggesting an aetiological role for defective folate and methyl metabolism is not sufficient to justify an active preventative strategy of folic acid supplementation without performing a large clinical trial. Current supplementation policies designed to prevent neural tube defects may incidentally prevent Down’s syndrome, provided a sufficiently high dose of folic acid is used. Further progress in primary prevention is hampered by limited aetiological knowledge and there is an urgent need to refocus research in that direction.

• #12 Primary prevention of Down’s syndrome

  https://www.medsci.org/v02p0093.htm

  However, only about 1% of DS pregnancies are in women with a family history of the disorder so the impact of this activity on birth prevalence is minimal. […] Biochemical, molecular and epidemiological evidence suggests a link between DS and a defect in folate and methyl metabolism. […] A large trial of folic acid and possibly cobalamin supplementation would be needed before DS prevention can be established and a public health policy on the matter is justified.

• #13 Primary prevention of Down’s syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1168873/

  Biochemical, molecular and epidemiological evidence suggests a link between DS and a defect in folate and methyl metabolism. This is not sufficient to justify an active preventative strategy of folic acid supplementation without performing a large clinical trial. However, current supplementation policies designed to prevent NTDs may incidentally prevent DS, although the higher 5mg dose would probably be needed. […] Further progress in the primary prevention of DS is hampered by limited knowledge of the cause of this disorder. There is an urgent need to refocus research in that direction.

• #14 Prevention of Congenital Abnormalities ~ Can Trisomy 21 (Down Syndrome) Be Prevented? | Hiro Clinic | (EN)

  https://www.hiro-clinic.or.jp/nipt/prevention-of-congenital-anomalies/?lang=en

  Learn about the prevention of congenital abnormalities, including whether Trisomy 21 (Down Syndrome) can be prevented. Explore the role of folic acid, vaccinations, and other measures in reducing the risk of congenital conditions. […] Can Congenital Abnormalities be Prevented? Some congenital abnormalities are said to be preventable. For example, congenital rubella syndrome can be prevented by receiving the rubella vaccine. […] It is said that taking folic acid may help prevent Trisomy 21 (Down Syndrome). Mothers who have previously given birth to a child with neural tube defects are 5.8 times more likely to have a child with Trisomy 21 (Down Syndrome) compared to those who have not. Neural tube defects are caused by a deficiency in folic acid, so taking folic acid may help prevent Trisomy 21 (Down Syndrome).

• #15 Down syndrome and genetics | EBSCO Research Starters

  https://www.ebsco.com/research-starters/health-and-medicine/down-syndrome-and-genetics

  Down syndrome cannot be prevented. However, women at risk of giving birth to a child with this condition may seek genetic counseling before becoming pregnant. […] Some commentators were concerned that the information given may be negatively swaying mothers toward choosing abortion, leading to action such as the passing of the Down Syndrome Prenatal Education Act in the state of Pennsylvania in 2014, which requires healthcare workers to ensure that women making the prenatal decision about whether to abort a baby with Down syndrome will receive a thorough range of supportive information through the state’s health department.

• #16 Down Syndrome Guide: Causes, Symptoms and Treatment Options

  https://www.drugs.com/health-guide/down-syndrome.html

  There is no way to prevent Down syndrome. However, the chance of having a child with Down syndrome increases as the age of the mother increases. […] Parents who already have a child with Down syndrome are more likely to have another child with the same problem in future pregnancies. Genetic testing can help to determine the amount of risk.

• #17 How to Reduce the Risk of Down Syndrome in Pregnancy

  https://www.bajajallianz.com/blog/wellness/prevent-down-syndrome-during-pregnancy.html

  Women over 35 should be aware of the increased risk of Down syndrome and consult a healthcare provider about specialised care during pregnancy. […] Regular exercise, stress management, and avoiding exposure to harmful chemicals or radiation can contribute to a healthy pregnancy environment. […] Staying updated on the latest medical advancements and guidelines related to Down syndrome can empower parents to make well-informed decisions. […] Prospective parents are encouraged to seek regular medical advice, undergo prenatal screenings, and adopt a healthy lifestyle to reduce risks.

• #18 Down syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/down-syndrome/diagnosis-treatment/drc-20355983

  The American College of Obstetricians and Gynecologists recommends offering the option of screening tests and diagnostic tests for Down syndrome to all who are pregnant, no matter what age. […] Screening for Down syndrome is offered as a routine part of care before the baby’s birth, called prenatal care. […] For those at risk of having an infant with Down syndrome, the test can be done starting at 10 weeks of pregnancy. If the test is positive, diagnostic testing is usually needed to confirm that the baby has Down syndrome. […] If your screening test results are positive or uncertain, or you’re at high risk of having a baby with Down syndrome, you might consider more testing to confirm the diagnosis. […] Couples who are being treated for infertility through in vitro fertilization (IVF) who know that they are at increased risk of passing on certain genetic conditions to their children may choose to have the embryo tested for genetic changes before it’s implanted in the womb.

• #19 Trisomy 21 (Down Syndrome) | Embryo Project Encyclopedia

  https://embryo.asu.edu/pages/trisomy-21-down-syndrome

  There is no cure for or way to prevent Trisomy 21, but there are ways to detect it during pregnancy. […] Women over the age of thirty-five have a higher chance of carrying a fetus with Trisomy 21 and can select to have Trisomy 21 screening. […] There are two separate types of detection methods available for Trisomy 21, which are screening tests and diagnostic tests. […] The second category of tests for Trisomy 21 is diagnostic tests, which more accurately diagnose a genetic abnormality.

• #20 Down syndrome – Causes, Symptoms, and treatments | MedPark Hospital

  https://www.medparkhospital.com/en-US/disease-and-treatment/down-syndrome

  What is the prevention of Down syndrome? Preventing high-risk and low-risk babies with Down syndrome in both young and aging mothers is as simple as getting a pre-marital checkup or enrolling in a prenatal care program with a specialist obstetrician-gynecologist to screen for Down syndrome from the mother’s blood (NIPT test) and having an appropriate treatment plan in place if the fetus is diagnosed with Down syndrome. […] Presently, advanced medical technology in screening aids in a high-precision diagnosis of Down syndrome, enabling parents to know abnormalities in advance before giving birth and helping them to plan treatment with a team of medical specialists appropriately.

• #21 Down syndrome primary prevention – wikidoc

  https://www.wikidoc.org/index.php/Down_syndrome_primary_prevention

  Confirmation of screen positive is normally accomplished with amniocentesis. This is an invasive procedure and involves taking amniotic fluid from the mother and identifying fetal cells. The lab work can take several weeks but will detect over 99.8% of all numerical chromosomal problems with a very low false positive rate. […] A 2002 literature review of elective abortion rates found that 9193% of pregnancies with a diagnosis of Down syndrome were terminated. […] The American Academy of Pediatrics, among other health organizations, has issued a series of recommendations for screening individuals with Down Syndrome for particular diseases. These guidelines enable health care providers to identify and prevent important aspects of DS. All other typical newborn, childhood, and adult screening and vaccination programs should also be performed.

• #22 Down syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/down-syndrome/diagnosis-treatment/drc-20355983

  Early intervention for infants and children with Down syndrome can make a major difference in improving their quality of life. […] For people with Down syndrome, ongoing services, including healthcare, education and life skills support, are important throughout life. […] If your child has Down syndrome, you’ll likely rely on a team of specialists that can provide medical care and help your child develop skills as fully as possible. […] Ask your healthcare professional about early intervention programs in your area. […] People with Down syndrome can live fulfilling lives.

• #23 Guide | Physical Therapy Guide to Down Syndrome | Choose PT

  https://www.choosept.com/guide/physical-therapy-guide-down-syndrome

  Physical therapists can help prevent or reduce many of the physical symptoms and functional concerns linked with DS. Due to differences in their muscles and joints, babies and young children often adopt alternative ways to move and position their bodies. These different movement patterns put added stress on bones and joints as a person ages. Physical therapists teach children with DS more efficient ways to use their bodies to help prevent future problems. They help children learn how to move with more symmetry (balance) and without using extreme postures. […] Most children with DS benefit from starting physical therapy as newborns (NDSS, 2021).

• #24 Down syndrome secondary prevention – wikidoc

  https://www.wikidoc.org/index.php/Down_syndrome_secondary_prevention

  The American Academy of Pediatrics, among other health organizations, has issued a series of recommendations for screening individuals with Down Syndrome for particular diseases. These guidelines enable health care providers to identify and prevent important aspects of DS. All other typical newborn, childhood, and adult screening and vaccination programs should also be performed. […] […] Persons with Down syndrome need to be closely screened for certain medical conditions. They should have: Eye exam every year during infancy, Hearing tests every 6 – 12 months, depending on age, Dental exams every 6 months, X-rays of the upper or cervical spine between ages 3 – 5 years, Pap smears and pelvic exams beginning during puberty or by age 21, Thyroid testing every 12 months. […] […] At birth, an ultrasound of the heart (echocardiogram) should be done immediately in order to identify congenital heart disease (this should be carried out by someone with experience in pediatric cardiology). A complete blood count should be done in order to identify pre-existing leukemia. A hearing test using brainstem auditory evoked responses (BAERS) testing should be performed and any hearing deficits further characterized. The thyroid function should also be tested. Early Childhood Intervention should be involved from birth to help coordinate and plan effective strategies for learning and development. […]

• #25 Down syndrome secondary prevention – wikidoc

  https://www.wikidoc.org/index.php/Down_syndrome_secondary_prevention

  Thyroid function testing should be performed at 6 months and 12 months of age as well as yearly thereafter. Evaluation of the ears for infection as well as objective hearing tests should be performed at every visit. Formal evaluation for refractive errors requiring glasses should be performed at least every two years with subjective vision assessments with each visit. After the age of three, an x-ray of the neck should be obtained to screen for atlanto-axial instability. As the child ages, yearly symptom screening for obstructive sleep apnea should be performed.

• #26 Medical Care for Adults With Down Syndrome: Guidelines From the Global Down Syndrome Foundation | AAFP

  https://www.aafp.org/pubs/afp/issues/2022/0400/p436.html

  Assess adults with Down syndrome annually for dementia starting at 40 years of age. […] Screen adults with Down syndrome and obesity for type 2 diabetes mellitus with an A1C level every two to three years starting at 21 years of age and earlier if other diabetes risk factors are present; in adults with Down syndrome at a healthy weight, start screening at 30 years of age. […] Screen adults with Down syndrome for hypothyroidism with a thyroid-stimulating hormone test every one to two years starting at 21 years of age. […] Diabetes rates in adults with Down syndrome are four times those of unaffected adults younger than 30 years and twice those of unaffected adults 30 years and older. […] Despite limited evidence, GLOBAL recommends diabetes screening with an A1C level every three years beginning at 30 years of age in those without obesity, at 21 years of age in those with obesity, and earlier if other risk factors are present. […] Screening with serum thyroid-stimulating hormone testing every one to two years starting at 21 years of age is recommended. […] Annual clinical assessment for celiac disease is recommended, with laboratory evaluation if indicated.

• #27 P549 Should children with down syndrome receive prophylactic antibiotics to prevent recurrent respiratory infections? | Archives of Disease in Childhood

  https://adc.bmj.com/content/104/Suppl_3/A373.1

  Should children with down syndrome receive prophylactic antibiotics to prevent recurrent respiratory infections? […] Our project investigated whether there is evidence supporting or refuting the use of antibiotic prophylaxis for recurrent respiratory infections in the DS population. […] Given the dearth of evidence in this area, we formulated a clinical trial to investigate the utility of prophylactic antibiotics for current respiratory infections in the DS population. […] There is a current lack of evidence supporting or refuting the use of prophylactic antibiotics for recurrent respiratory infections in DS. […] Clinical trials are needed to elucidate whether prophylactic antibiotics are useful in this cohort and to investigate the optimal timing and combination of antibiotics.

• #28 Healthcare Guidelines | National Down Syndrome Society (NDSS)

  https://ndss.org/resources/healthcare-guidelines

  The healthcare guidelines mentioned below help define the standards of quality care for individuals with Down syndrome. They include specific recommendations for screening tests, information about common medical conditions, suggestions for early intervention, diet and exercise and other issues across the lifespan. […] Reinforce the need for subacute bacterial endocarditis prophylaxis (SBE) in susceptible adults with cardiac disease. […] The GLOBAL Medical Care Guidelines for Adults with Down Syndrome provide first-of-kind, evidence-based medical recommendations to support clinicians in their care of adults with Down syndrome.

• #29 Down Syndrome

  https://www.kumc.edu/research/alzheimers-disease-research-center/community-outreach/brain-health-in-down-syndrome.html

  Learn about our Brain Health in Down Syndrome program. […] The University of Kansas Alzheimer’s Disease Research Center launched the Brain Health in Down Syndrome Program to drive efforts to prevent or delay Alzheimer’s disease in individuals with Down syndrome. […] We also want to explore what drugs or other treatments, like what we eat and how much we move, work to delay or even prevent the disease process. […] Be part of the progress to prevent Alzheimer’s disease in people with Down syndrome. […] This study investigates why certain individuals are more predisposed to developing Alzheimer’s disease, which could inform future treatments. […] The study aims to understand how dietary changes and weight impact the risk of Alzheimer’s disease in adults with Down syndrome. […] The HERO study is testing an investigational drug that aims to prevent or delay the development of Alzheimer’s disease. […] The HERO study will test an investigational drug to see if it is safe to be used to prevent amyloid buildup in the brain.

• #30 How to Prevent Down Syndrome During Pregnancy | Motherhood Hospitals

  https://www.motherhoodindia.com/how-to-prevent-down-syndrome-during-pregnancy/

  Preventing Down syndrome is a complex issue that involves a combination of genetic, environmental, and lifestyle factors. While it’s not entirely preventable, understanding the risk factors and taking proactive steps can significantly reduce the risks. Regular prenatal check-ups, genetic counseling, and advanced screenings are essential components of a proactive healthcare approach.

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