Doctor insights on:
Are There Different Levels Of Down Syndrome
My brother does not have down syndrome. Although he cannot read, write, or recognize different colors, he can memorize names/ faces.Is there any cure?
Diagnosis: The first thing is get him properly diagnosed. I would start with a pediatric neurologist or behavioral pediatrician. The evaluation should include chromosomal analysis with a micro array assessment. In addition a neuropsychological assessment should be done to determine what is are his strengths and weaknesses and help develop a program for teaching him. ...Read moreSee 2 more doctor answers
See below: As tests were developed to assess the fetal health it was noted that a fetus with down's syndrome had higher maternal HCG levels that a normal child. This came to be part of the test, along with maternal age and ultrasound examination, to asses the risk of having a down's child. ...Read more
Can extremely high sugar level in a male lead to (down syndrome) in his offspring. We are so scared of making babies.
No: Males get a bit of a pass on the ds issue.You make millions of sperm that are constantly renewed and only the healthiest sperm swim well enough to conceive.Any weak ones wouldn't do the deed. Women present only one egg at a time and those show the accumulated effect of toxins an the like. You may benefit from talking with a genetic counselor to explore any risk issues. ...Read moreSee 1 more doctor answer
Quad Marker Screen: The Quad Marker Screen is done between 15 and 20 weeks of pregnancy in select patients. It looks at levels of AFP, hCG, UE, and Inhibin-A. Low levels of AFP and UE and higher than normal levels of hCG and Inhibin-A COULD indicate that the woman is at higher risk for having a baby with Down's syndrome. It is not even close to 100% accurate (70%-80% at best). ...Read more
Could high levels of hCG point to down syndrome? Mine were around 245, 000 at 9.2 weeks. Have had ultrasound and only one baby.
Range for normal HCG: Levels at 9-12 weeks lmp is 25, 700 – 288, 000 miu/ml, so yours is ok. At 11-14 weeks, a skilled ultrasonographer can determine if there is increased fluid under the skin at the base of the fetus' neck, a sign that other screens or diagnostic tests for ds are neeeded. A "quad" test that measures 4 pregnancy hormones screens for increased risk of certain birth defects including ds at 16-18 weeks. ...Read more
My maternity 21 test came back positive for down syndrome, but my ultrasound is normal. Will my amnio tomorrow say the same, or different results?
Screen vs definitive: When you are trying to test for something in large populations (pregnant women) it is common to screen with a less invasive test and only do the more invasive (and costly) test if the screening suggests a problem.The amnio will get babies cells for study, and the results will be definite.A positive study means ds is present a negative, it is not.. ...Read more
My LMP is 27apr14 and my beta hCG level on 28may14 found 6805.93mIU/mL and on 30may14 is 14798.49mIU/mL. is it normal or doubt of down syndrome?
Normal: Your HCG levels have appropriately doubled. It is a good sign of a healthy pregnancy. If you are concerned about Down's syndrome, please speak with your doctor regarding early blood tests that will help with diagnosing an abnormal pregnancy like integrated screening or verifi prenatal test. Good Luck! ...Read more
Why do Down syndrome patient have their eyes slanted upward, is it caused by the chromosome 21, i need an explanation on why their face look different?
In the genes: All of our features are determined by our genes. The appearance of your eyes, nose, mouth, hair color, skin color, among other features are all inherited. When there is a defect in the gene coding, changes can occur. Facial features can change with in utero exposure such as alcohol (fas syndrome). For downs, the extra 21 causes low ears, slanted eyes, simian crease as well as organ problems. ...Read more
11weeks pregnant with controlled hypothyroidsm, thyroid levels are verynormal.Down syndrome scan due nextweek.Does being hypothyroid concerns downsyndrome.
My HCG at 5w5d (evening) was 22,000. I am concerned that this indicates down syndrome. Are high HCG levels in early pregnancy an indicator of DS?
Definitely not: this does not mean Downs, nothing suggests Down's at 5 weeks. The 22,000 is pretty normal. Good wishes. ...Read more
Which is a better predictor of Down syndrome during the first trimester screening, low papp-a or high hCG levels? Or the ratio between the two values?
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 more
Supportive care: Down syndrome has a well recognized pattern of obvious features and several common vulnerabilities. An evaluation for treatable heart defects and other problems helps assure the patient with best chance at a good life. Supportive care for their academic and growth challenges is also required.With modern health care, these patients can live well into their 60's in a protected environment. ...Read more
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
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