Doctor insights on:
Do All Down Syndrome Babies Have The Simian Crease
If I have some of the physical signs of Down syndrome like a simian crease but don't have down syndrome, am I more likely to have a child with downs?
No: Some of the features seen in Down syndrome persons are also seen in other hereditary disorders, and some features are seen in normal people. A normal person can have a single horizontal palmar crease (simian crease), but his simian crease is just a trait he has, and has nothing to do with down syndrome. A normal person with a simian crease is not more likely to have a Down syndrome baby. ...Read more
See below: It occurs in about 1 of 30 babies. ...Read more
How rare is it to have a simian crease (a single palmar crease) on both palms without having down syndrome?
Fairly common: A single sided simian crease is found in about 10% of the population, whereas having it on both palms is found in about 5%. When a condition is seen in this many people, it is considered somewhat common. Many more people who have a simian crease have normal chromosomes than have down syndrome. ...Read more
My babies neck tissue measurement was high and they say he could have down syndrome. Can you explain this?
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 more
Help for Downs: There are services such as early intervention to assist children under 3 years of age. Special services are school responsibility after that. There are Down syndrome support groups which can be very supportive. Many medical centers have Down syndrome clinics to provide comprehensive care. My grandson has down syndrome. His parents find these services to be very helpful. ...Read more
No: They tend to grow at a pretty normal rate prior to birth. Deficiencies in linear growth will eventually occcur in the average ds kid as they grow older. However, some maintain a relatively normal rate of growth, dependingg on other factors affecting their health. ...Read more
Complex issue: Children with downs syndrome can be seriously ill at birth. They may have heart disease, bowel obstruction, serious lung disease, blood sugar problems. If these are not present, they may be healthy but hypotonic with trouble feeding. Usually they have obvious features of their face and ears and hands that suggest the diagnosis. Chromosome testing will confirm the diagnosis. ...Read more
Not specifically: Ds infants can have any of the sporadic issues that affect non ds infants, like esophageal atresia, where the swallowing tube is not hooked up, or urinary tract defects, both of which can lead to poor amniotic fluid production. ...Read more
How long can an infant with Down syndrome & eisenmenger live? The vsd is still very open. Are there effective treatments?
Depends: Trisomy 21 with a vsd and eisenmenger's has, unfortunately, a poor prognosis. The length of survival is variable and depends on the severity of the pulmonary hypertension as well as any other conditions. Treatments depend on those factors as well. Please discuss your child's specific prognosis with your cardiologist. ...Read more
No correct answer: Children with down's syndrome have certain features that are indicative while in utero. Weight is not one of them. In utero weight is dependent on so many factors including maternal factors that fetal weight cannot be used with any accuracy. In my experience, children with Down syndrome often weigh similar to their siblings in utero. ...Read more
No: This is listed is present in about 45% of infants with ds but may be seen at least on one side in 5-7% of normal infants. ...Read more
Before/after birth?: There are a variety of screening or confirmatory tests that can be done during pregnancy. After birth, many physical features are suggestive of the diagnosis, but the physician involved would order a chromosome test to confirm or exclude the issue. Over the years, some had signs so mild many would miss the diagnosis. Others looked so different I didn't believe it. ...Read more
Variable: A thorough assessment of anyone's risks for pregnancy includes age, pre-pregnancy health ; medications, and an assessment of the genetic input from both parents. A 43 yo has ~1/30 risk of a trisomy 21 Down syndrome birth, added to a general 4% risk with any pregnancy for an unexpected event (cleft, premi, illness). A consultation with a genetic counselor could define your specific risks. ...Read more
Chromosomal disorder: Down syndrome or trisomy 21 is a condition cause by an extra (usually maternal) chromosome #21. It cause a typical features (large tongue up slanting eyes sandal toe) as well as mental retardation. Other medical conditions such as leukemias and orthopedic conditions are also more common. Increased incidence is seen with older mothers. ...Read more
ACCEPT THE REALITY:: It is a chromosomal disorder, a common condition. You will see a lot of kids, adolescents, adults with this syndrome. They need extra care, support, help. Ask the baby's pediatrician to give you the name of support group in your area, you will learn a lot, get support and help. ...Read more
Older women: It is observed that women have the lowest predicted rate of Down syndrome births at ~20 (1/1925) with a gradual risewith age. By 40 the risk reaches 1/110, 50 =1/10.Most speculate that the additive effect of lifes toxic exposures eventually add up to deminish the chances an egg can produce a normal infant. ...Read more
Not precisely!: Ultrasound cannot diagnose a fetus with Down syndrome (trisomy 21). It can pick up "soft" markers for downs. If you indeed identify soft markers, a discussion with your physician is critical to ascertain the risk of having an infant with a chromosomal abnormality. Further prenatal testing may be considered such as cvs or amniocentesis. It can be a difficult decision to make. ...Read more
Down's Screening: Full intergrated test consists of ultrasound measurement of nuchal translucency at 10 to 13 weeks combined with other test for serum markers has the detection rate of 85 to 95 percent and the lowest false positive rate for Down's syndrome screening tests ...Read more
Why do you ask?: You're going to need labs to determine this. Please forgive my frankness. Having a child with possible Down's is an extremely serious business and anyone who would trivialize this by saying, "Let's skip the labs that will establish the diagnosis" is doing both the child and the family a grave disservice. ...Read more
Is it possible for a baby to be born a dwarf and also have down syndrome? How rare is a down dwarf?
Excedingly rare: I had occasion many years ago to investigate such a situation & needed to find answers for why some kids with ds chromosomes (t21) had totally different physical features. Run the numbers: achondroplasia (common new mutation dwarf) @ 1/15, 000 x 1/1700 (risk of ds @ 21)=1/25, 000, 000. ...Read more
What do you suggest if my friend just had a baby and he looks like he has down syndrome. I know that sounds mean but how can you tell if the baby has down syndrome?
Genetic testing can be done to determine certain types of Downs syndrome. There is also the physical findings A flattened face, especially the bridge of the nose
Almond-shaped eyes that slant up
A short neck
A tongue that tends to stick out of the mouth
Tiny white spots on the iris (colored part) of the eye
Small hands and feet
A single line across the palm of the hand (palmar crease) ...Read more
I'm 42 and pregnant my partner is 24 what are our odds of having a healthy baby im 42 and pregnant my partner ia 24 and I want to know what are our chances of having a healthy baby...See I had a Down syndrome baby when I was 39 with my ex husband and now I
Relative risk: Your previous DS birth adds 1% to your risk of a repeat. Add that to 1% by age and 4% risk of some unexpected outcome that all pregnant mothers have. So in fact your estimated chance of a normal outcome is 94%.I would encourage you to have screening done and proceed as you wish. ...Read more
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
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