2007 Sep;81(3):475-91. Test Result for Y . We take your privacy seriously.
Chromosome 21 - an overview | ScienceDirect Topics `63H6qL__ _m
Chromosome 21, which represents about 1 percent of the entire genome, was expected to be gene-poor, but not as impoverished as it now seems. by . http://www.uptodate.com/home. Prenatal testing for trisomy 21, 18, and 13 can help determine whether your baby has a genetic abnormality. British physician John Langdon Down first described the physical features of Down syndrome in 1866, and thus the disorder was later named for him. Cookies used to enable you to share pages and content that you find interesting on CDC.gov through third party social networking and other websites. You can specify conditions of storing and accessing cookies in your browser. include protected health information. Thank you guys. %%EOF
Make a donation. Karyotype is needed for counselling and for estimating recurrence risk (risk in future pregnancies). However, if you have any questions regarding your pregnancy or your child's growth and development, talk with your doctor. That night, as we sat down to dinner, I said to our four boys, "I have some big news for you. This option is dependent on Family Size and Income Level. reciprocal translocation t(12;21)(p12;q22) in the children suffering from acute Q{~T'W4zmM^&l )PZYWE?m'gL. There are 23 pairs of chromosomes, for a total of 46. National Human Genome Research Institute: Chromosome Abnormalities. This test is not diagnostic, but it can be reassuring. Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA - ScienceDirect American Journal of Obstetrics and Gynecology Volume 211, Issue 4, October 2014, Pages 365.e1-365.e12 Research Obstetrics The DNA sequence of human chromosome 21. RUNX1 and RUNX1-ETO: roles in hematopoiesis and Cookies used to make website functionality more relevant to you. This rearrangement occurs in approximately 7 percent of acute myeloid leukemia cases in adults. All rights reserved. theft being redefined as a "c xmTkLW\evagXEE`] Prenatal. Chromosomes allow DNA to be accurately copied throughout these cell divisions. For one, there are "false positives" -- results indicating a fetus has a chromosome problem when in fact the chromosomes are normal.
Chromosomal Abnormalities: Trisomy 21 (Down Syndrome) Lubec G, Engidawork E. The brain in Down syndrome (TRISOMY 21). There is a problem with It is important to be able to recognize characteristic features of these conditions in order to initiate the most appropriate evaluations. Valero R, Marfany G, Gil-Benso R, Ibanez MA, Lopez-Pajares I, Prieto F, Rullan a`a`07eb@ !V68s" 11 junio, 2022.
What does "Clinical correlation is recommended" mean? Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, No trisomy 18, 13 or 21. Front Biosci (Landmark Ed). Facts about Down syndrome. privacy practices. I knew well that a pair of red lines on a pregnancy test held no guarantee of a baby to hold in nine months. Omissions? To use the sharing features on this page, please enable JavaScript. lymphoblastic leukaemia. Early on, I'd kept my pregnancy news a secret, held it at bay. Language is delayed, and both short and long-term memory is affected.
, I am SO happy I found this because I just got my results back and they say the same thing and of course it's Friday after hours so I won't reach my DR til Monday but thank god this made me feel so much better, My job use to be typing these reports. and down syndrome: from genomics to pathophysiology. information highlighted below and resubmit the form. Review/update the I was still, if barely, in my regular jeans, nobody knew anything. Find other ways to confirm the same results. The American College of Medical Genetics was concerned enough that they proposed a new acronym -- "NIPS" (non-invasive prenatal screening) since the word "screening" implies that further testing is needed to confirm a diagnosis -- that NIPS (or NIPT) is better understood as a first step. These proteins perform a variety of different roles in the body. Because insurance coverage (deductibles, coinsurance, copays, etc.) Risk factors include: People with Down syndrome can have a variety of complications, some of which become more prominent as they get older. Clinical correlation is suggested. NIPT seems to detect almost all cases of Down syndrome, and most Trisomy 13 or 18; those it misses will usually be detected by ultrasound. Your post will be hidden and deleted by moderators. Children and adults with Down syndrome have distinct facial features. Diagnosing and Coding Congenital Anomalies, 4.1 Lists of selected external and internal congenital anomalies to consider for monitoring, 4.2 Congenital Malformations of the Nervous System: Neural tube defects, 4.3 Congenital anomalies of the nervous system: Microcephaly, 4.5a Overview Congenital heart defects: Prenatal diagnosis and postnatal confirmation, 4.7 Congenital malformations of the digestive system, 4.8 Congenital Malformations of Genital Organs, 4.9a Congenital malformations and deformations of the musculoskeletal system: Talipes Equinovarus, 4.9b Congenital malformations and deformations of the musculoskeletal system: Limb reduction defects/limb deficiencies, 4.9d Limb Deficiency: Transverse Intercalary, 4.9e Limb Deficiency: Longitudinal Preaxial (Tibia, Radius, First Ray), 4.9f Limb Deficiency): Longitudinal Postaxial (Fibula, Ulna, Fifth Ray), 4.9g Limb Deficiency: Longitudinal Postaxial, 4.9h Limb Deficiency: Longitudinal Axial Limb Deficiency Split Hand and Foot, 6.2 International Classification of Diseases, 6.3 Personnel Responsible for Diagnosing and Coding, 6.4 Effect of the Certainty of Diagnosis on Coding, 6.6 Use of Codes for Surveillance, Data Analysis and Presentation, 7. Chromosome Results Chromosome Tested Results Trisomy 21 (T21) Negative Trisomy 18 (T18) Negative Trisomy 13 (T13) Negative Fetal Sex Result Consistent with a female fetus. Human cells normally contain 23 pairs of chromosomes. It also commonly causes other medical abnormalities, including heart and gastrointestinal disorders. AML. The proteins of human chromosome 21. Thank you for easing my mind. It's caused by a mistake in cell division during early development of the fetus. hb```f``
This content does not have an English version. Identifying genes on each chromosome is an active area of genetic research. Previous work in the area is presented in Section 2. All rights reserved.
expected representation of chromosome 21, 18 and 13 material When a chromosome has trisomy 21, 18, or 13, it has three copies rather than two. Oncogene. expected representation of chromosome 21, 18 and 13 material An allele is a variant form of a gene. Z5:Kszw?m&;9s{\1ec^;?Z;SSL?Yk$q&f 1997-1998;1(4):301-6. doi: 10.1089/gte.1997.1.301. What is Down syndrome? Nat Rev Genet. 1997-2023 BabyCenter, LLC, a Ziff Davis company. In 2000, researchers working on the Human Genome Project announced that they had determined the sequence of base pairs that make up this chromosome. In 2000, researchers working on the Human Genome Project announced that they had determined the sequence of base pairs that make up this chromosome. Abnormal karyotype approximately 95% of cases result from chromosomal non-disjunction of chromosome 21 (47,XX,+21 or 47,XY,+21) at conception. http://www.ndss.org/down-syndrome/what-is-down-syndrome/. Girls are XX and boys are XY, so no Y means only Xs. Seminars in Perinatology. Cookies used to track the effectiveness of CDC public health campaigns through clickthrough data. Trisomy 13,also known as Patau syndrome, is caused by an extra copy of chromosome 13. Contributors control their own work and posted freely to our site. Saving Lives, Protecting People, Division of Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1.2 Purpose of congenital anomalies surveillance, 3.5 Description formats for congenital anomalies, 3.9 Potential inclusion/exclusion criteria, 4. If you need to flag this entry as abusive. Note, it does not state trisomy anywhere in the report, but to your point it is possible it can mean it is negative for trisomy. There's no way to prevent Down syndrome. https://ghr.nlm.nih.gov/condition/down-syndrome. 2002 Here is where NIPT comes in. Any use of this site constitutes your agreement to the Terms and Conditions and Privacy Policy linked below. Down syndrome. Am J Med Genet C Studies suggest that many who get this information wish they didn't have it -- experience it as "toxic" rather than reassuring, a source of enduring uncertainty for those who terminate pregnancies, of enduring worry for those who do not. Advertising revenue supports our not-for-profit mission. G, Sarret E, Gonzalez-Duarte R. Molecular characterisation of partial chromosome I literally just had my NIPT test. Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, oaMu&JYCr^cXmC>^]%a>&Q O:I,nvm~`5=f7oq&q9rxFF'$h3r9o|^}|
w59Ms~0oq{?=|wsglD)llMGi~J0$P,icR9. Chromosome 21 has an additional copy in people with Down syndrome. a2&JO6ISUY4zAu1i^Z4|fl.~X5R"@4)IEWR> R6DX !H2 (trisomies 21, 18, 13). Clinical diagnosis should be confirmed by genetic testing (typically, karyotype from infants blood or tissue). Frequently asked questions. x+TT(T0 B3C#sK#Tp}\C|@
He or she can also explain the prenatal tests that are available and help explain the pros and cons of testing. 10.1186/gb-2000-1-2-reviews0002. Translocations of genetic material between chromosome 21 and other chromosomes have been associated with several types of cancer. chromosome 21, 18 and 13 material negative mean. Panorama and harmomy blood tests are good but not 100% because they rely on the fetal blood available in the mother's blood there are documented cases where placenta and fetus do not share the se DNA, the NIPT tests cant tell placenta DNA from fetal DNA, so the test will likely always say clinical correlation is suggested. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule.
PDF SAMPLE LAB REPORTS - inqaba biotec I only know this stuff because I sat through her presentation for 40 minutes. Jan;46(1):89-96. The way I read it you are having a girl and she's negative for all three trisomy's. Mine also shows this but my doctor called and said all was good ?
expected representation of chromosome 21, 18 and 13 material Trisomy is a genetic condition where a chromosome has three copies instead of the normal two. But now, at 11 weeks gestation, I was ready to tell. They are making me wait almost a month and Im going absolutely crazy. syndrome: impact on disease phenotypes. Genes are grouped into larger structures within the cells called chromosomes. Changes involving chromosome 21 can include a missing segment of the chromosome in each cell (partial monosomy 21) and a circular structure called ring chromosome 21. Trisomy 21, 18, or 13 means there are three copies of that particular chromosome instead of two. Most children with Down syndrome have mild to moderate cognitive impairment. h%_e_J8G -8-v
@h;"gl}Q;bEFqN)S)S)4X)r=4J:FZM?uVfSKP^L5#e+tSJ[6Zk Genes, alone or in combination, determine many of the genetic traits that a person inherits, including risks of developing certain diseases or conditions. Some of the micro-organism are not single cells how are they arranged? NIPT is new, commercially available for just over a year, rapidly appearing in doctors' offices around the country. See our, URL of this page: https://medlineplus.gov/genetics/chromosome/21/. endstream
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I Found the 'Holy Grail' of Prenatal Testing | HuffPost Life As a Bryophyte this organism sits midway along the evolutionary path between unicellular aquatic algae and flowering land plants. 4H|jiP(4 -eqq 2]"1P@*O {`l Vnf3 jxT3p10fg4- ste``?3'"C3\!66xHiXX0p% iF ` d
The translocation, written as t(8;21), fuses part of the RUNX1 gene from chromosome 21 with part of the RUNX1T1 gene (also known as ETO) from chromosome 8. Antonarakis SE. The risk to have a child with Down syndrome does increase with the mothers age, but mothers of all ages can have a child with Down syndrome and it can occur in people of all races. Medicaid is accepted with zero patient responsibility and uninsured patients may utilize the Patient Assistance Program. This would surely be a disappointment. The fusion protein produced from the t(8;21) translocation, called RUNX1-ETO, retains some functions of the two individual proteins. Mosaicism occurs in about 2% of cases (post-zygotic non-disjunction or more rarely from trisomic rescue). think twice before sharing personal details, foster a friendly and supportive environment, remove fake accounts, spam and misinformation, delete posts that violate our community guidelines, reviewed by our medical review board and team of experts. Ostermaier KK. If you are a Mayo Clinic patient, this could Trisomy 21, also known as Down syndrome, is a condition characterized by a distinctive pattern of minor and major anomalies associated with excess chromosome 21 material. hbbd```b``"aDl@$K8|& DrH|9! I've never been more eager to roll up my sleeve. http://www.uptodate.com/home. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. Be sure to include at least five specific places that the carbon atom can be found as it makes its cycle. The RUNX1-ETO fusion protein forms CBF and attaches to DNA, but instead of turning on genes that stimulate the development of blood cells, it turns those genes off. Lam K, Zhang DE. I would probably have done the same as you and try to analyze it, I think this is "lab speak" for your results. Typically, NIPT will tell you when you exceed your age related risk for trisomy 21, 13, or 18, as we know that risk for these chromosome abnormalities (and some sex chromosome abnormalities) go up with moms age. Corrections? Can changes in the structure of chromosomes affect health and development?
Question about nipt results : r/pregnant - reddit.com SOOO my questions are.. 1. Genetics Home Reference. Y CHROMOSOME Not Detected Y CHROMOSOME INTERP Consistent with a female fetus. Any one of three genetic variations can cause Down syndrome: There are no known behavioral or environmental factors that cause Down syndrome. Researchers believe that having extra copies of genes on chromosome 21 disrupts the course of normal development, causing the characteristic features of Down syndrome and the increased risk of health problems associated with this condition. But microarray also detects genetic variations whose clinical significance is unknown. The human body has 23 distinct chromosome pairs or copies. 2004 119 0 obj
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6nZ A Group Owner is a member that has initiated the creation of a group to connect with other members to share their journey through the same pregnancy & baby stages. Butler Tobah YS (expert opinion).
Women's Health & Genetic Testing | Labcorp Women's Health
What is Trisomy? Difference Between 21, 18, & 13 | Prenatal Test It means to compare with other data to prove the already gathered data . No wonder many of us hold onto our news until we have some assurance -- the passage of a particular week, a heartbeat heard in clinic, a test result. https://www.acog.org/-/media/For-Patients/faq164.pdf?dmc=1&ts=20161216T1208042192. Life spans have increased dramatically for people with Down syndrome. Sawinska M, Ladon D. Mechanism, detection and clinical significance of the 0
Note that once you confirm, this action cannot be undone. 1) Updates?
Chromosome 21 | genetics | Britannica Down syndrome. It's the most common genetic chromosomal disorder and cause of learning disabilities in children. And the rest means all is good! In these people, the condition is called mosaic Down syndrome. The timing is similar to CVS, but the key difference is that NIPT is physically "non-invasive," meaning blood is taken from a woman's arm. Oh - y chromosone not detected means no extra Y - so negative on the Trisomys. National Down Syndrome Society. Mayo Clinic does not endorse companies or products. However, the significance of this difference was dependent on which outgroup was used to standardize diversity levels. Trisomy 21 may be diagnosed through direct analysis of fetal chromosomes, by karyotype or DNA microarray, obtained from amniocentesis, chorionic villus sampling, or percutaneous umbilical blood sampling. 2004 Jan;28(1):35-42. doi: the unsubscribe link in the e-mail. This type of genetic change, called a somatic mutation, is not inherited. With non-invasive prenatal testing (NIPT), it is now possible through a single blood sample to determine with accuracy whether a fetus carries the genes for one of three major chromosome abnormalities. leukemogenesis. The defective gene on chromosome 21 Oct;249(10):1347-56. doi: 10.1007/s00415-002-0799-9. Please help! The normal RUNX1 protein, produced from the RUNX1 gene, is part of a protein complex called core binding factor (CBF) that attaches (binds) to DNA and turns on genes involved in blood cell development. i was panicking as I haven't talked to my doctor yet. The same investigators estimated that if amniocentesis were used to confirm positive NIPT tests, the number of test-related losses would be reduced to 29. Ait Yahya-Graison E, Aubert J, Dauphinot L, Rivals I, Prieur M, Golfier G, 1 See answer Advertisement HafsaM This specimen showed a normal portrayal of chromosome 21, 18, and 13 material.
Rates of trisomies 21, 18, 13 and other chromosome - PubMed %%EOF
This means he or she has no signs or symptoms of Down syndrome, but can pass an unbalanced translocation on to children, causing Down syndrome in the children. Other changes in the number or structure of chromosome 21 have a variety of effects on health and development. Bunt CW, et al. The condition is much less common and occurs in about 1 in 16,000 babies born. http://www.ndss.org/Down-Syndrome/Down-Syndrome-Facts/. Clinical signs that allowed the diagnosis. There is no needle in the uterus, no chance that efforts to garner information might cause the unthinkable. magnolia counseling services; michael beck producer net worth. Starting from the sun, create a food chain including at least three organisms. 8/)M1^nFfo1w?eni
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Nlu+$cuA9~GwYPva`l This post was published on the now-closed HuffPost Contributor platform. The other two types are called Robertsonian translocation and Mosaicism and these occur in about 4-6% of babies born with Down syndrome. Down syndrome: Overview of prenatal screening.
If just the first step, it would better be understood as improvement. 2) Genet Test. If I was guessing I would day the test means negative for trisomy. chromosome 21, 18 and 13 material negative mean. The real draw of NIPT is its potential as an alternative to invasive testing, a way to replace a needle in the belly with one in the arm, to get information without putting pregnancies in harm's way. this specimen showed an expected representation of chromosome 21, 18 and 13 material. 10.2741/3977. Find advice, support and good company (and some stuff just for fun). My husband and I didn't tell a soul, spent weeks not knowing whether to imagine our fifth, think about how he or she would reshape our lives, our family, our selves. 15 0 obj
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Chromosome 21. 2016;40:35. This baby took 7 years to conceive with a lot of surgeries, appointments and medication. Chromosome 21 abnormalities can cause intellectual disability, delayed development, and characteristic facial features. A negative/normal result puts you at a lower risk than your age related risk. These cookies allow us to count visits and traffic sources so we can measure and improve the performance of our site. I don't have access to a patient portal and had to wait for the OB call. Rossier J, Personnaz L, Creau N, Blehaut H, Robin S, Delabar JM, Potier MC.
Down syndrome - Symptoms and causes - Mayo Clinic - Mayo Clinic Create an account or log in to participate. Then right after the last is listed it says "Interpretation" and that's the verbiage I posted. I havent heard from my doctor yetbut now Im spinning! Test Result for Chromosomes 21, 18 and 13 Positive for Trisomy 21 This specimen showed an increased amount of chromosome 21 material (trisomy 21), such as may be found in pregnancies with Down syndrome. It felt that way to me. Chromosome 21 has an additional copy in people with Down syndrome. military officer oath navy; . There is a simple way to avoid this. *t~oU*x_7Z|o~wFU|~7VM?|x_rZ&OG5zZ Orydo9of}|N/d*bmB:C.v^y*KIudw#ul1Z;u8[`^Z>i5}\hjJ8N([=rA?/v68F4r0@_&fkzu-6nz1^$oi=KOl[|ff*lg}+[4W}v`/!Yg6UD7l;_sw[B2D FX6? Screening for fetal aneuploidy. 7th ed. This test detects an increased amount of chromosomal 21, 18, 13 material that is circulating in maternal blood. For diagnosis, consider physical traits with greatest discriminant diagnostic value. Epub 2000 Aug 4. Explain how energy is transferred through t The expected rates at amniocentesis of 47, + 21; 47, + 18; 47, + 13; Data were analyzed on the results of 19675 prenatal cytogenetic diagnoses reported to two chromosome registries on women aged 35 or over for whom there was no known cytogenetic risk for a chromosome abnormality except parental age. Trisomy 21 can be strongly suspected or diagnosed clinically during the neonatal period by recognizing the typical physical traits. National Library of Medicine. Mayo Clinic is a not-for-profit organization. The role of the family physician in the care of children with Down syndrome. I'm reading it the same as others. MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. It was packed with meetings of ethicists and others to discuss the several issues raised by NIPT: worries about the distorting influence of commercial interests; about routine use without adequate consent; about misinterpretation of test results; about use for dubious purposes, like sex selection. "Mayo," "Mayo Clinic," "MayoClinic.org," "Mayo Clinic Healthy Living," and the triple-shield Mayo Clinic logo are trademarks of Mayo Foundation for Medical Education and Research. If you feel a message or content violates these standards and would like to request its removal please submit the following information and our moderating team will respond shortly. Prenatal genetic diagnostic tests. Linguistics Exam #1. Better understanding of Down syndrome and early interventions can greatly increase the quality of life for children and adults with this disorder and help them live fulfilling lives. In some cases, the signs and symptoms are similar to those of Down syndrome. Look for associated anomalies, in particular, certain subtypes of heart defects, like atrioventricular canal. 63 0 obj
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your test is negative for the main chromosomal abnormalities like down's syndrome trisomy 21, Edwards syndrome trisomy 19 and pataus syndrome trisomy 13. congratulations and enjoy rest of ur pregnancy! So Im confused ! Nobody should do -- or get -- an abortion for a chromosome problem unless the diagnosis is confirmed by invasive testing. I don't understand why all practices don't make women speak with the genetic counselor first. Some parents have a greater risk of having a baby with Down syndrome. View chapter Purchase book. Y Chromosomal material Not detected Pregnancy Data Fetal Fraction 12% Number of Fetuses 1 This XY chromosome pair includes the X chromosome from the egg and the Y chromosome from the sperm. %PDF-1.6
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It is another devil's bargain -- and another I am glad to avoid. The most common chromosome abnormalities a care provider is likely to encounter in the newborn nursery are trisomies for chromosomes 21, 18, and 13. Knowing the risk for trisomy 21, 18, and 13 can help you, your family and your health care provider make informed decisions about your pregnancy. I'm glad I found this forum. All of the above, Link the regulation of breathing in humans to the three components of any homeostatic process (ASAP PLS), 80 POINTS! clinical correlation statements are routine statements to most labs and even radiographic images..its telling the ordering health care professional or doctor "please make sure that these results make sense to you and was expected and acceptable based on what(other "clincal "things like history, exam, other lab results, ultrasound, nuchal translucency tests result etc) you know about your patient ". +P@K
?L)QISG+F The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. Trisomy 21, 18, or 13 means there are three copies of that particular chromosome instead of two Down syndrome is a condition in which an extra copy of chromosome 21 causes delays in the way a child develops, both mentally and physically. 4L:S~FT/S0b
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information is beneficial, we may combine your email and website usage information with Half the chromosomes come from the egg (the mother) and half come from the sperm (the father). If you decide to call after the blood is drawn,please call Sequenom within 2 days for verification of benefits. Clinical correlation is suggested means that they would expect an ultrasound or amniocentesis to be the same as their results. Clinical correlation is required. Sequenom will alert your provider that your test has been canceled. Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental . Though not all people with Down syndrome have the same features, some of the more common features include: Infants with Down syndrome may be average size, but typically they grow slowly and remain shorter than other children the same age.
expected representation of chromosome 21, 18 and 13 material Chromosome 21 likely contains 200 to 300 genes that provide instructions for making proteins. this specimen showed an expected representation of chromosome 21, 18 and 13 material. http://www.uptodate.com/home. Sign up for free, and stay up to date on research advancements, health tips and current health topics, like COVID-19, plus expertise on managing health. CDC twenty four seven. Chromosomes allow DNA to be accurately copied throughout these cell divisions. Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, National Down Syndrome Society. }&Cu]t_R]gy||8_9m8t`>(X(\f=OW?;VxEa!y?SY9iCWue E{t$S9`xx*m*)_@O)zmL Then right after the last is listed it says Interpretation and thats the verbiage I posted. Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, We strive to provide you with a high quality community experience.
These complications can include: For people with Down syndrome, getting routine medical care and treating issues when needed can help with maintaining a healthy lifestyle. I'll say it again. Not everyone with Down syndrome is affected in the same way, and there is no way to determine before birth how a child may be affected.