Doctor insights on:
What Are The Markers For Down Syndrome
Fragile x syndrome: Fragile x syndrome is x linked dominant condition.It does not follow usual pattern of inheritance for x linked male carriers pass their premutations to all their daughters.Male cwith full mutation can pass premutation to all their daughters. The females with full mutation are able to pass full mutation on, so therotically there is 50% chance that a child will be affected.Iam sorry but it is littl. ...Read more
Many: First, most have an apple build, ie. Carry weight on the torso, rather than buttocks and extremities. Family hx of hbp, cholesterol problems, diabetes 2, and ASHD or mi, especially if strong. I obtain fasting lipids, insulin, hgba1c, and in females, free and total testosterone. The latter, since pcos is common. A lipid profile that suggests Insulin resistance is high triglycerides and low hdl. ...Read moreSee 2 more doctor answers
Chromosome defect: Ds is one of the more common chromosome(c) defects that can survive pregnancy (many others miscarry). It usually happens when an egg with an extra 21c combines with a normal sperm & creates a baby with the extra 21c in all tissues.Risks vary with age and are lowest in the early 20's(1/2000), rising to 1/100 at about 40 & 1/12 at 49.Various prenatal tests can pick up signs early on. ...Read more
See below:: Blood pressure (lying and standing); eye exam; nerve & muscle examinatin. There are no specific tests to confirm this disease. A neurologist can make the diagnosis based on history/exam and ruling out other symptoms. Mri of the head, plasma norepinephrine levels and urine catecholamine test may be ordered. ...Read more
Multiple tests: A complete blood count will determine if you have increased numbers of eosinophils. Then, common causes of high eosinophils must be excluded, usually by blood tests for parasites or other infections. Other blood tests and/or imaging tests can determine if the eosinophils are damaging internal organs. Finally, blood tests and bone marrow biopsy can help determine what is causing the condition. ...Read more
Chromosome test: The usual test is called a karyotype. Blood cells (white cells) are obtained from the patient and the chromosomes are counted under a microscope. If there is an extra chromosome 18 then the patient has edwards syndrome or trisomy 18. This test can be done after the baby is born or it can be done in utero by amniocentesis (amniotic fluid taken from the uterus is tested). ...Read more
ECG: Do an ecg.Get a more detailed answer ›
Beighton criteria: Major criteria •a beighton score of 4+/9 •arthralgia > 3 m in 4 or more joints minor criteria •beighton score of 1-3/9 •arthralgia (> 3 m) in 1-3 joints or back pain (> 3 m), spondylosis, -lysis -listhesis •dislocation/subluxation in > 1 joint, or in 1 joint > 1 occasion •soft tissue rheumatism. > 3 lesions •marfanoid habitus •abnl skin •eye signs •varicose veins, hernia, uterine prolapse. ...Read more
HELLP: Hemolysis, elevated liver enzymes, low platelets (hellp) syndrome is considered a variation of severe preeclampsia (a pregnancy complication). It is diagnosed (as the name suggests) by testing for signs of ruptures red blood cells (hemolysis), elevated liver enzymes, and low platelets. Your OB doc will be watching for this as part of your prenatal care. ...Read more
Clinical: A girl who begins life seeming normal but develops autistic-like features can usually be diagnosed by a skilled clinician who can tell if it is rett's. Several genes are known, and can be tested for purposes of counseling / peace of mind, but some remain undiscovered. Good luck. ...Read more
See below:: There is no specific treatment for this condition. Critical care docs will monitor the pressure in the brain, blood gases, and blood acid-base balance (ph). Treatments may include: •breathing support (a breathing machine may be needed during a deep coma) •fluids by IV to provide electrolytes and glucose •steroids to reduce swelling in the brain. ...Read more
Netherton Syndrome : is diagnosed by molecular genetic testing for mutations of the SPINX gene on Chromosome 5q32. Other tests to determine the level of severity are found on www.genecards.org/cgi-bin/carddisp.pl?gene=SPINK5&search=spink5. Geneticists, dermatologists & other specialists provide diagnosis & management. See: www.firstskinfoundation.org/content.cfm/Ichthyosis/Netherton-Syndrome-Fact-Sheet/page_id/901 ...Read moreSee 1 more doctor answer
Long story!: The problem is duplication of genetic material (chromosome 21) in every cell of the body. There are facial features, heart problems, reduced muscle tone, and spinal, gi, ent, thyroid and blood-related issues as well. The biggest issue is mental deficiency. Ongoing surveillance and intervention by your pediatrician are important. So is developmental and school-based help. ...Read more
What Test: To a trained geneticist or an experienced neonatologist the clinical presentation of a child with trisomy 13 may not require any testing. However 100% confirmation of the clinical suspicion is usually provided by a karyotype test. ...Read more
Fetal ultrasounds in: the 1st & 2nd trimesters can show anatomical signs frequently seen in fetuses with Down Syndrome or other genetic accidents that result in 3 copies of a specific chromosome.Knowing your risk of DS, calculated by FUS findings, gestational & maternal age, 1st & 2nd trimester maternal blood screens, & a higher-resolution FUS, helps you decide if you want chromosomal testing for a definitive answer. ...Read more
Is amniocentesis a safe enough procedure to be performed even when risk of Down syndrome per marker tests is low ?
My doctor didn't find any Down syndrome markers in the ultrasound. Does that guarantee my baby won't have down syndrome?
No. OB's combine the: results of an integrated screening test that includes specific blood tests in both the first & 2nd trimesters + the first trimester ultrasound to determine a single Down Syndrome risk rating. Only prenatal diagnostic tests of fetal genetic material for either Karyotype to determine # of chromosomes or Chromosomal Microarray to determine mutations in smaller gene sequences are definitive. ...Read more
What can I do if my doctor didn't find any Down syndrome markers in the ultrasound.Am i out of the woods?
Not necessarily: The definitive test for down or other chromosomal defects is a chromosome study on fetal cells obtained through cvs or amniocentesis. These are specific and dependable.Ultrasounds and blood tests are screening tools.They are helpful in picking out some who might need the definitive tests. At 39 you have about 1% risk for ds but another 4% risk of some other issue (premi, clefts etc.). ...Read moreSee 1 more doctor answer
What do you suggest if my doctor didn't find any Down syndrome markers in the ultrasound.am I out of the woods?
Maybe: When looking for DS there are a variety of tests used for screening. An ultrasound looks for features that are commonly found in DS, but are not 100% accurate. Tests that look at the babies chromosome pattern by obtaining fetal cells are the most accurate. When someone is in the low risk category, a negative US is probably adequate. If in a higher risk, a more specific test is advised. ...Read more
Daughter is pregnant with twins saw EIF on the girls no other marker or family history how worried should she be about down syndrome?
Had 1/610 for Down syndrome prior to sonogram, found bright spot in heart(soft marker) does that mean the probability is doubled ex. 1/310, high risk?
Chromosome defect: Ds is one of the more common chromosome(c) defects that can survive pregnancy (many others miscarry).Eggs are supposed to have a single 21c & combine with the 21 from dads normal sperm.Here a pair of moms 21c +dad's 21 creates a baby with the extra 21c in all tissues.This extra material confuses the creation of body parts causing ds..Various prenatal tests can pick up signs early on. ...Read more
DNA defects: Chromosome 21 seems to be the cause. Two most common types are trisomy 21 where ther is an entire extra chromosome in each cell. The other is translocation where only an extra piece of the chromosome is found. It can be an isolated defect or an inherited defect. Rare exotic forms include polyploidy and haploid forms and chimeras. Sorry you asked? ...Read moreSee 1 more doctor answer
Chromosome defect: Ds is one of the more common chromosome(c) defects that can survive pregnancy (many others miscarry).Eggs are supposed to have a single 21c & combine with the 21 from dads normal sperm.In ds the pair of moms 21c +dad's 21 creates a baby with the three 21c in all tissues.This extra material confuses the creation of body parts causing ds..Various prenatal tests can pick up signs early on. ...Read moreSee 1 more doctor answer
Down syndrome : Down's syndrome may be detected before birth (prenatally) or after birth (postnatally). It cannot be cured but treatment and support can help someone with Down's syndrome to lead an active life. A number of advice and support groups are available for people with Down's syndrome and their families and carers. ...Read moreSee 1 more doctor answer
Mistake in chromosom: During the formation of normal eggs or sperm the chromosome(c) pairs are supposed to split leaving one of each in the egg/sperm.At conception the joining of egg/sperm brings together the pair & as tissue grows it has the proper number in each cell. With ds the egg has a pair of 21c and at conception a triple 21 is created. All cells derived after will have an extra 21 & become a ds child. ...Read more
Rarely: Downs syndrome is usually related to a trisomy defect that develops during the initial cleavage of the cells during primary fetal development. A form can occur as a translocation that may be carried by a parent. An assumption is that the 21 chromosome may be damaged by maternal age or by some environmental factor that then results in downs syndrome. Most cases are just by chance. ...Read moreSee 1 more doctor answer
Depends on parents: An unaffected mother or father could have a balanced(normal) set of chromasome material where a piece of one 21 chromasome is stuck on another.If the egg or sperm had the normal 21 and an extra 21piece hidden on another chromasome, they could pass it to the baby. It only takes an extra piece of 21 to cause ds.It is important to study ds to verify type, as translocation ds can recur each pregnany. ...Read moreSee 2 more doctor answers
No autosomal: Down syndrome happens when an extra 21 chromosome is present in all the cells of the body. It happens before conception when the donor egg fails to shed one of its 21 chromosomes in the formation of the egg & the male 21 joins the female pair & creates an embryo with 3 number 21's. It has nothing to do with traits or mutations in the gene code. ...Read moreSee 1 more doctor answer
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