expected representation of chromosome 21, 18 and 13 material

The defective gene on chromosome 21 Ait Yahya-Graison E, Aubert J, Dauphinot L, Rivals I, Prieur M, Golfier G, MedlinePlus also links to health information from non-government Web sites. Then, lo and behold, gave birth to a completely normal baby. chromosome 21, 18 and 13 material negative mean. Trisomy 21 means that each cell in the body has three copies of chromosome 21 instead of the usual two copies. But microarray also detects genetic variations whose clinical significance is unknown. 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. Accessed Dec. 16, 2016. ;ca(0@ \ Two copies of chromosome 21, one copy inherited from each parent, form one of the pairs. 52): Nature. Then right after the last is listed it says "Interpretation" and that's the verbiage I posted. I'm not sure I understand your post.your results were negative for trisomy 21, 18, and 13 or were negative for those chromosomes completely. 2000 Sep 7;407(6800):110. 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. If I was guessing I would day the test means negative for trisomy. Please specify a reason for deleting this reply from the community. Medicaid is accepted with zero patient responsibility and uninsured patients may utilize the Patient Assistance Program. To provide you with the most relevant and helpful information, and understand which Previous work in the area is presented in Section 2. Facts about Down syndrome. 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. Human cells normally contain 23 pairs of chromosomes. Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML; Chromosome 21 Clinical correlation is suggested. Translocation Down syndrome can be passed from parent to child. https://www.nichd.nih.gov/health/topics/down/conditioninfo/Pages/default.aspx. http://www.ndss.org/down-syndrome/what-is-down-syndrome/. h%_e_J8G -8-v @h;"gl}Q;bEFqN)S)S)4X)r=4J:FZM?uVfSKP^L5#e+tSJ[6Zk 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. If we combine this information with your protected Check out these best-sellers and special offers on books and newsletters from Mayo Clinic Press. AML. Down syndrome results when abnormal cell division involving chromosome 21 occurs. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. A genetic rearrangement (translocation) involving chromosome 21 is associated with a type of blood cancer known as core binding factor acute myeloid leukemia (CBF-AML). Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. What most worries genetic counselors and ethicists though are false positives that could result in unnecessary abortions of healthy fetuses. Rink BD, et al. The draw of NIPT is that it is non-invasive. A genetic counselor can help you understand your chances of having a child with Down syndrome. Perhaps that's why I felt such gratitude when I was offered a new test that can reassure without the devil's bargain of invasive testing. 2007 Sep;81(3):475-91. Obstetrician/gynecologist, researcher, bioethicist and author. Prenatal testing for trisomy 21, 18, and 13 can help determine whether your baby has a genetic abnormality. the unsubscribe link in the e-mail. Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, http://www.uptodate.com/home. In fact, chromo - . All rights reserved. Disclosure: Anne Drapkin Lyerly is currently part of study that will examine the relationship between intellectual property disputes about NIPT and access to testing. Epub 2000 Aug 4. My fianc PGS Success After 3 Miscarriages and 2 Failed Cycles. The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 21. `63H6qL__ _m *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? Review/update the 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. This extra genetic material causes the developmental changes and physical features of Down syndrome. ,ydh-Z} The fusion protein produced from the t(8;21) translocation, called RUNX1-ETO, retains some functions of the two individual proteins. Prenatal genetic diagnostic tests. The DNA sequence of human chromosome 21. It is important to be able to recognize characteristic features of these conditions in order to initiate the most appropriate evaluations. information and will only use or disclose that information as set forth in our notice of In 2000, researchers working on the Human Genome Project announced that they had determined the sequence of base pairs that make up this chromosome. This content does not have an Arabic version. 4. barcelona airport covid test appointment; phrase d'accroche sur la puissance des etats unis 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. Corrections? %PDF-1.4 % Butler Tobah YS (expert opinion). 2002 I Le\yfGd8DefPIxmrbhMnI}!3ED*yJ4WXVg Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, For diagnosis, consider physical traits with greatest discriminant diagnostic value. Gardiner K, Davisson M. The sequence of human chromosome 21 and implications Chromosomes allow DNA to be accurately copied throughout these cell divisions. This site complies with the HONcode standard for trustworthy health information: verify here. The human body has 23 distinct chromosome pairs or copies. If you need to flag this entry as abusive. One group of investigators estimated that if the test were incorrectly understood to be absolutely predictive of Down syndrome, it could result in abortions of nearly 2,500 unaffected fetuses in one year. Explain how energy is transferred through t 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. . Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental delays. These cookies may also be used for advertising purposes by these third parties. That's what makes it exciting. This condition is most often caused by trisomy 21. http://www.ndss.org/Down-Syndrome/Down-Syndrome-Facts/. 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! No Y chromosomal material detected." No 468,469 Interestingly, iAMP21 is 2700-fold more common in individuals . 2001 Jun;11(3):241-6. doi: 10.1016/s0959-437x(00)00185-4. Language is delayed, and both short and long-term memory is affected. theft being redefined as a "c Chromosome 21 likely contains 200 to 300 genes that provide instructions for making proteins. Omissions? You are also agreeing to our Terms of Service and Privacy Policy. The statement that "this specimen showed an expected representation of chromosomes 21, 18, 13." 7th ed. I would not worry! The chromosomes found in the nucleus of our cells allow for exact DNA duplication during cell division. Genes are grouped into larger structures within the cells called chromosomes. Specialty consultations (including genetic and cardiology) and the results, if applicable. One chromosome in each pair comes from your father, the other from your mother. 2. Make a donation. But now, at 11 weeks gestation, I was ready to tell. The draw of NIPT is that it is non-invasive. %PDF-1.6 % You will be subject to the destination website's privacy policy when you follow the link. Should your financial obligation for commercial insurance be. Accessed Dec. 16, 2016. 2014;90:851. Chromosome 21. *kj6],ZpIZ miP= z,Uzb9(Jga"YfIbdbd4it.2N582 .Cqcqxg}y#+,z m;S$. I've been pregnant twice in my 40s and am expecting my fifth child in November. 10.1016/s0145-2126(03)00160-7. Identifying genes on each chromosome is an active area of genetic research. 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. 2012 Jan 1;17(3):1120-39. doi: Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, I would take this as lab-speak and good news!Negative and baby girl! Thank you for easing my mind. Int J Dev Biol. Cookies used to track the effectiveness of CDC public health campaigns through clickthrough data. As soon as I saw that I freaked out and called my obgyn so he can EXPLAIN those results. 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. x+TT(T0 B3C#sK#Tp}\C|@ Which of the following illustrates the "medicalization of deviance"? Erratum In: Nature This post was published on the now-closed HuffPost Contributor platform. These proteins perform a variety of different roles in the body. For example, acute lymphoblastic leukemia (a type of blood cancer most often diagnosed in childhood) has been associated with a translocation between chromosomes 12 and 21. 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. British physician John Langdon Down first described the physical features of Down syndrome in 1866, and thus the disorder was later named for him. The role of the family physician in the care of children with Down syndrome. Down syndrome: Clinical features and diagnosis. 1) Life spans have increased dramatically for people with Down syndrome. 1997-2023 BabyCenter, LLC, a Ziff Davis company. magnolia counseling services; michael beck producer net worth. by . I havent heard from my doctor yetbut now Im spinning! and down syndrome: from genomics to pathophysiology. 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. I'll say it again. INTERPRETATION This specimen showed an expected representation of chromosome 21, 18 and 13 material. significant, then Sequenom will give you the opportunity to use its uninsured Patient Assistance Program. There is no needle in the uterus, no chance that efforts to garner information might cause the unthinkable. this specimen showed an expected representation of chromosome 21, 18 and 13 material. Physical traits include upslanting palpebral fissures, flat nasal bridge and midface, decreased muscle tone (hypotonia), wider space between first and second toe (sandal gap), nystagmus, brachycephaly, incurving of the fifth finger (clinodactyly), narrow palate, overfolded helix of the ear (especially with a small ear), short-appearing neck with redundant skin on the back of the neck, broad and short hands and feet, and single transverse crease in the palm of the hand. Please discuss your testing options with your health care provider. Sequenom can process your verification of benefits before or after you have your blood drawn. 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. What is the main function of a chromosome? varies from patient to patient, it is important to learn about your financial obligations before your insurance is billed. 2005-2023Everyday Health, Inc., a Ziff Davis company. You're getting a sister.". endstream endobj 120 0 obj <> endobj 121 0 obj <> endobj 122 0 obj <>stream If you need to go back and make any changes, you can always do so by going to our Privacy Policy page. It's the most common genetic chromosomal disorder and cause of learning disabilities in children. Note that once you confirm, this action cannot be undone. So Im confused ! With that news, I settled in to the fact that I was going to have a baby, tentativeness pressed firmly aside, heart opening at last. 0 Nobody should do -- or get -- an abortion for a chromosome problem unless the diagnosis is confirmed by invasive testing. 000aMt= -H3]rn? Oh - y chromosone not detected means no extra Y - so negative on the Trisomys. J Neurol. 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. A single copy of these materials may be reprinted for noncommercial personal use only. Congrats! These cookies perform functions like remembering presentation options or choices and, in some cases, delivery of web content that based on self-identified area of interests. Common traits in trisomy 21 (Down syndrome) Physical traits - include upslanting palpebral fissures, flat nasal bridge and midface, decreased muscle tone (hypotonia . =l.{v#[}pC=jzWC=9D6c:9QMKI8$J,98|:>_qG^QK{L7?O?NnpPiuSwTp]BwA@ Xj2fc5z5sRb3'D[OI~VhR,XZx}`MtY9IF$fw2K5-je/rV ]]m92j'xW(6Bed8Wl:oh4MY\XE[(3U"ysi-kO{$4l}_g dLR4y$909vY}dAzO|2s6#8VlJK=@Ck5$Jgfil&KVy{gFE" (jnzyp\t8wFM3Qt[lMV.)t`IrErz1t;]fO>f>Vi^c=/f3Gc3-m(kc=z_6Ygm"Z|77e_a7s`1 Y CHROMOSOME Not Detected Y CHROMOSOME INTERP Consistent with a female fetus. All information these cookies collect is aggregated and therefore anonymous. 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. K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, HAAD Certified Dentists in Abu Dhabi. Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental . No Y chromosome means no boy . Sequenom will alert your provider that your test has been canceled. The normal ETO protein, produced from the RUNX1T1 gene, turns off gene activity. They are making me wait almost a month and Im going absolutely crazy. oaMu&JYCr^cXmC>^]%a>&Q O:I,nvm~`5=f7oq&q9rxFF'$h3r9o|^}| w59Ms~0oq{?=|wsglD)llMGi~J0$P,icR9. Genome Biol. Other changes in the number or structure of chromosome 21 have a variety of effects on health and development. Fig. All of the above, Link the regulation of breathing in humans to the three components of any homeostatic process (ASAP PLS), 80 POINTS! 2000 May 18;405(6784):311-9. doi: 10.1038/35012518. 1999 Sep;36(9):694-9. Gabbe SG, et al., eds. A week after I rolled up my sleeve, my results were back: "This specimen showed an expected representation of chromosome 21, 18, and 13. include protected health information. Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Please whitelist our site to get all the best deals and offers from our partners. 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. xmTkLW\evagXEE`] clinical correlation is suggested. 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. Wth!? While I crave reassurance, I've never been able to bring myself to do either. Because they transmit hereditary traits to the DNA of the following generation, they are referred to as the seat of hereditary information. 119 0 obj <> endobj IF your results were positive for a trisomy then your doctor would have a CVD or amniocentesis done to confirm the genetics of the fetus and then with those results discuss the results.Your results say expected representation so that tells you things look at they ate supposed to and you can take a deep breath and relax. i was panicking as I haven't talked to my doctor yet. according to LabCorp it says Chromosome 21 - Negative, Chromosome 18 - Negative, and Chromosome 13 - Negative. This would surely be a disappointment. This change in gene activity blocks the maturation (differentiation) of blood cells and leads to the production of abnormal, immature white blood cells called myeloid blasts. Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, 63 0 obj <>stream clinical correlation is suggested. endstream endobj startxref The condition is much less common and occurs in about 1 in 16,000 babies born. \>Oz?v.yz)i[{SUpo9iGtNqX.jN^o>_;zwf'oq7sP\; In Down syndrome, there is an additional copy of chromosome 21, resulting in three copies instead of the normal two copies. Let us know if you have suggestions to improve this article (requires login). Categories: . Early on, I'd kept my pregnancy news a secret, held it at bay. How is the dna in a prokaryote different from the dna in a eykaryote . Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Trisomy 21, 18, or 13 means there are three copies of that particular chromosome instead of two. Children and adults with Down syndrome have distinct facial features. What the genetic counselor told me is that you'll be able to confirm the results by ultrasound if you were positive for the Trisomys. Children with Down syndrome usually are diagnosed before or at birth. }&Cu]t_R]gy||8_9m8t`>(X(\f=OW?;VxEa!y?SY9iCWue E{t$S9`xx*m*)_@O)zmL No trisomy 18, 13 or 21. expected representation of chromosome 21, 18 and 13 materialgc buffer busy acquire wait event oracle 11g iberostar club membership cost. There are 23 pairs of chromosomes, for a total of 46. The other two types are called Robertsonian translocation and Mosaicism and these occur in about 4-6% of babies born with Down syndrome. Rossier J, Personnaz L, Creau N, Blehaut H, Robin S, Delabar JM, Potier MC. Yet none muted my enthusiasm to get NIPT, nor my sense that what is most powerful about it is its potential to transform the experience of pregnancy -- and for the better. significant, then Sequenom will give you the opportunity to use its uninsured Patient Assistance Program. largest private landowners in missouri; colton dixon band members; botanic essentials candles. Please help! +P@K ?L)QISG+F 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. This rearrangement occurs in approximately 7 percent of acute myeloid leukemia cases in adults. More massive adjustment than tragedy, but the events will no doubt leave an enduring mark. As my colleague (and my obstetrician) Diana offered candidly, "You know, Annie, this the Holy Grail. 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. the most helpful and trustworthy pregnancy and parenting information. 2004 March is Trisomy Awareness Month. Antonarakis SE. The MaterniT21 PLUS laboratory-developed test is a non-invasive blood test that is available for women with increased risk indicators for fetal chromosome variations at 10 weeks of pregnancy and beyond. 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. 1998-2023 Mayo Foundation for Medical Education and Research (MFMER). Appreciate the response! 2001 Sep 10;20(40):5660-79. doi: 10.1038/sj.onc.1204593. according to LabCorp it says Chromosome 21 - Negative, Chromosome 18 - Negative, and Chromosome 13 - Negative. One colleague tells the story of a patient who had a positive NIPT, passed up the amniocentesis and engaged the Down syndrome community during pregnancy, attended several meetings and events. The gene on chromosome 21 was the first to be identified. Use standard operating procedures to decide whether to accept prenatal diagnoses without postnatal confirmation (e.g. This content does not have an English version. 2000;1(2):REVIEWS0002. Be sure to include at least five specific places that the carbon atom can be found as it makes its cycle. Accessed Dec. 16, 2016. Chromosome 21: from sequence to applications. My worry is always about procedure-related miscarriage -- the small chance that an invasive test (involving a needle in the uterus) could cause the loss of an otherwise healthy child. This specimen showed expected representation of chromosome 21, 18, and 13 material. I was still, if barely, in my regular jeans, nobody knew anything. Learn more about, Twins & Multiples: Your Tentative Time Table. Trisomy is a genetic condition where a chromosome has three copies instead of the normal two. Down Syndrome affects about 1 in every 700 babies. Contact a health care provider if you have questions about your health. the gene poor . It also commonly causes other medical abnormalities, including heart and gastrointestinal disorders. Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. Frequently asked questions. 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. Sawinska M, Ladon D. Mechanism, detection and clinical significance of the For the following questions, assume that the frequency of carriers = 0.05. 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. %%EOF Genetics Home Reference. No The #1 app for tracking pregnancy and baby growth. I only know this stuff because I sat through her presentation for 40 minutes. Observed 411 134 5 x2 = 13.51 70 rep Expected 423 110.4 11.6 n = 2 P ca. Primer on Data Quality in Birth Defects Surveillance, 7.1 Why data quality matters; A surveillance scenario, 7.4 General good data strategies and practices, 7.5 Key Characteristics of Data Quality in Public Health Surveillance, 7.6 Quality Data come from Quality Processes, 7.8 Quality and waste in surveillance, Congenital Anomalies of the Nervous System, Congenital Anomalies of the Nervous System: Microcephaly, Congenital Anomalies of the Ear: Microtia/Anotia, Congenital Anomalies of the Digestive System, Oesophageal Atresia/Tracheo-Oesophageal Fistula, Congenital Anomalies of Genital and Urinary Organs, Congenital Anomalies and Deformations of the Musculoskeletal System: Talipes Equinovarus, Longitudinal Preaxial (Tibia, Radius, First Ray), Longitudinal Axial Defects Split Hand and Foot, Longitudinal Postaxial (Fibula, Ulna, Fifth Ray), Chromosomal Abnormalities: Trisomy 21 (Down Syndrome), Congenital anomalies of the nervous system, Congenital anomalies of the digestive system, Congenital anomalies of the genital and urinary organs, Congenital anomalies and deformations of the musculoskeletal system, Birth Defects Surveillance Course Overview, Module 1: Introduction to Congenital Anomalies Surveillance, 1.1 Public Health and Surveillance of Congenital Anomalies, Module 2: Introduction to Planning Activities and Tools, Module 3: Introduction to Surveillance Approaches, 3.8 Description Formats for Congenital Anomalies, Module 4: Introduction to Diagnosis of Selected Congenital Anomalies, 4.1 External Major Congenital Anomalies for Monitoring, 5.1 International Classification of Diseases, 5.3 Personnel Responsible for Diagnosis and Coding, International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), U.S. Department of Health & Human Services, heart defects (in about 50%, most notably endocardial cushion defects), gastrointestinal atresias (duodenal or esophageal atresia), vision and hearing issues (e.g. mapping and sequencing consortium. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. It said the same thing. endstream endobj 124 0 obj <>stream Risk factors include: People with Down syndrome can have a variety of complications, some of which become more prominent as they get older. Trisomy 21 can be strongly suspected or diagnosed clinically during the neonatal period by recognizing the typical physical traits. Mosaicism occurs in about 2% of cases (post-zygotic non-disjunction or more rarely from trisomic rescue). There's no way to prevent Down syndrome. 139 0 obj <>/Filter/FlateDecode/ID[]/Index[119 53]/Info 118 0 R/Length 102/Prev 546008/Root 120 0 R/Size 172/Type/XRef/W[1 3 1]>>stream I don't have access to a patient portal and had to wait for the OB call. does the mean represent the center of the data? )"jgnZs 6e{wp:4Blv)uc6s*nh|^l#_dN[2-"ovZ]~t+>tSGyd? 6nZ Oncogene. Like most women my age, I was offered -- indeed encouraged to have -- an amniocentesis or chorionic villous sampling (CVS). Girls are XX and boys are XY, so no Y means only Xs. Each person with Down syndrome is an individual intellectual and developmental problems may be mild, moderate or severe. Trisomy 18,also known as Edwards syndrome, is caused by an extra copy of chromosome 18. information is beneficial, we may combine your email and website usage information with 4H|jiP(4 -eqq 2]"1P@*O {`l Vnf3 jxT3p10fg4- ste``?3'"C3\!66xHiXX0p% iF ` d "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. Down syndrome fact sheet. https://ghr.nlm.nih.gov/condition/down-syndrome. hbbd```b`` | D & K!2cXX%c fgIq0ddrL@&`RC4@ e MaternIT 21. 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. I know my risks of genetic problems are high (about 1 in 30, given my age). 10.1186/gb-2000-1-2-reviews0002.