Doctor insights on:
Ultrasound Of Baby With Down Syndrome
Is fetal movement of baby with any 'problem/defect' like down syndrome, the same as a normal growing fetus?
Depends on the : Degree of low muscle tone ( hypotonia) that is present in a fetus with down syndrome ; the size (smallness for gestational age) of the fetus. Some mothers of infants with ds say they felt less fetal movement than from their non-ds fetuses; others say their fetus with ds was a good " kicker." there is a range of hypotonia in infants with ds, just as there is a range of cognitive ability. ...Read more
An ultraound, also known as a sonogram, is a painless and relatively inexpensive imaging test that utilizes sound waves instead of ionizing radiation. There are no side effects. Ultrasound can give us two-dimensional, and in some applications three-dimensional, images of structures and organs in virtually any part of the body. In addition to diagnostic uses, such as evaluating abnormalities in the abdomen, pelvis, and breast, ultrasounds are commonly used to guide needle and catheter placement in a variety of surgical ...Read more
T1;14(p22;q32: commonly seen in extranodalMZL associated with lymphomas downs syndrome translocation involves different chromosomes so the chance of downs syndrome is that of the general public not any more ...Read more
Yes.: Checking limb length on ultrasound can be one of the ways to screen for downs syndrome. ...Read more
Can a 20 week Anatomy ultrasound pick up down syndrome in the baby ? I have an increased risk of a 1 in 89 chance of having my baby born with DS
Didn't you ask this?: Your risk assessment was obsolete, Ultrasound detection of Down at 20 weeks misses many. Demand a test of freei fetal DNA in your blood sample--your PCP can order the Harmony test from Ariosa: call 1-855-9-ARIOSA (855-927-4672) In over 15,000 pregnancies they detected 100% of Down syndrome and the chance of a false positive was less than 1 in 1000. Results in 4 to 8 days. ...Read more
I have choroid plexus cysts. Will this increase chance of chromosome x/y or autosomal or translocation abnormalities in fetal development of my baby?
ACOG charts show the: risk of having a fetus with a Trisomy 21, Down Syndrome at prenatal diagnosis vs. the risk of having a live-born infant with DS because ~ 25% are lost. If there is no family history or prior infant with DS, at age 42 at delivery, the risk is 1/63; risk at 16 weeks' gestation is 1/50 - 1/55. Risk of any chromosomal disorder at term is 1/42. If 43 at term, DS risk is 1/49; of any trisomy, 1/33. ...Read more
Maternal serum : Screening at 10-14 weeks + fetal ultrasound (fus) at 11-14 weeks + maternal "quad" screen at 16 weeks detects ~ 95% of fetuses with down syndrome with <5% false-positive rate. Increased size of the fluid-filled space at the nape of the neck & abnormalities of blood flow in the heart are signs on early fus. Diagnostic testing is chorionic villus sampling at 10-12 weeks or amnio at 15-18 weeks. ...Read moreSee 1 more doctor answer
What are the chances my child will be born with chromosomal abnormalities? I was told my unborn child has echogenic bowels, that i tested higher for the risk of Down syndrome and as a carrier of the cystic fibrosis trait
There : There are several ultrasound findings that can suggest down sysndrome, and echogenic bowel is one of them. There could be other explanations for that finding, though. It sound like you will need some testing to find out what's going on. The two tests used most commonly are amniocentesis and chorionic villous sampling. Each has its own risks and benefits, so you should discuss them with your obstetrician. I would suggest that you do this sooner than later, and regardless of whether the outcome might lead you to terminate the pregnancy. ...Read more
What is the risk of a trisomy 21 parent passing on the condition to his/her offspring? Should adults with Down syndrome be dissuaded from reproducing
Variable: They are both "genetic" conditions but they are different in the spectrum of issues they present-. People with fragile x may have subtle cognitive impairments all depending on how affected the fmr1 gene is. People with downs have an extra chromosome and kids have delayed cognition as well as physical growth and frequently heart problems.. They both may exhibit autistic traits, more so fagile x. ...Read more
The increased risk of having a child with genetic defects like down syn. Also applies to men over age 40?
Yes: The simple answer is yes, but for different and incompletely understood reasons. "advanced paternal age" has been associated with genetic defects in general, though not specifically down syndrome as in women. The reasons remain to be determined, but as with anything else, scientific literature suggests that sperm "quality" degrades over time with increased risk of various defects. ...Read more
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