Question 1

what's the most common chromosomal abnormality syndrome in humans?

Accepted Answer

Down syndrome.: The most common chromosomal abnormality in a newborn population was trisomy 21 (down), with an incidence of 1 in 730 live births. Abnormalities of the sex chromosomes (eg, monosomy x or turner, xxy, xyy, xxx) and structural balanced rearrangements also occurred frequently. Trisomy 16 is the most common aneuploidy in abortuses. Trisomy 18 (edwards), and 13 (patau) are most common in stillborns.

Question 2

i am currently pregnant after multiple miscarriages. i tested my hcg at 5 weeks 3 days pregnant and it was 16,557. is this an indication of a possible chromosomal abnormality, such as down syndrome?

Accepted Answer

: HCG level is not good test for diagnosing Down syndrome. Mother's blood can be tested as it contains small amounts of fetal DNA. 
For info: https://www.nichd.nih.gov/health/topics/down/conditioninfo/diagnosis#:~:text=Prenatal%20Diagnostic%20Testing%20for%20Down%20Syndrome%201%20Amniocentesis,Percutaneous%20%28pronounced%20pur-kyoo-TEY-nee-uhs%29%20umbilical%20blood%20sampling%20%28PUBS%29.%20

Question 3

can you have a child with the physical characteristics of edwards syndrome but not have any chromosomal abnormalities?

Accepted Answer

Yes: Some of the physical signs of edwards syndrome are non-specific, that is, shared by other syndromes, with or without chromosomal abnormalities. No one sign is diagnostic, and several signs could be present in a child with normal chromosomes and without its having edwards syndrome.

Question 4

does measuring small during first us appt (being 1 week off - measured 6w2d, should be 7w2d) indicate issues down the line (i.e. increased risk for down syndrome or other chromosomal abnormalities, etc.)?

Accepted Answer

: Conception date can be determined by Last Menstrual Period (LMP) or by early ultrasound calculation. If the dates do not match, the Ultrasound date is typically more accurate. It does not mean that the baby measured small, just that your original calculation may have been off. Because ovulation varies with each cycle, conception dates are difficult to pinpoint with LMP.

Question 5

i have severe heart disease, malformations of my heart chromosomal abnormalities,  cognitive impairments, marfan syndrome in my family, mental illness, can i be exempt from the vaccination? if so, how?

Accepted Answer

:  Exempt ? Why ? You mention no defect in your immune system or other reason a vaccination would be dangerous or ineffective. If you function well enough to make your own decisions you can get the vaccine or not. It remains a personal choice. Some private employers may choose to require it at which time it may be a legal issue, not one we can help you with.

Question 6

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

Accepted Answer

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.

Question 7

what sort of disease is a chromosomal abnormality?

Accepted Answer

Genetic: Chromosomal abnormalities can include extra or missing chromosomes. I will refer this to experts in medical genetics for more information.

Question 8

what is the main cause of chromosomal abnormality in fetus?

Accepted Answer

Defect in gamete: Either the egg (usually) or sperm carries an extra chromosome (chm) to conception.The fetus ends up with 3 of that chm along with normal pairs of all the others. The third chm will cause a disruption in the code reading that goes into making the organs and brain. The newborn will be born with these defects.

Question 9

what is the difference between a mutation and a chromosomal abnormality?

Accepted Answer

Size.: Mutations are strategically placed minute changes in dna that change the message encoded in it to produce abnormal proteins and pathological symptoms. Chromosomal abnormalities (e.g. Down syndrome), are larger changes in the number of dna packages (chromosomes) each cell carries, so that many organ systems malfunction (brain, heart, bone marrow, etc).

Question 10

is osteogenesis imperfecta considered a chromosomal abnormality?

Accepted Answer

No - a mutation.: Osteogenesis imperfecta is a genetic anomaly that in 90% of cases is due to a mutation in the col1a1, col1a2 genes of type i collagen. It is not a chromosomal anomaly.

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Doctor answers about:

Jacobs syndrome chromosomal abnormality

A member asked:

What's the most common chromosomal abnormality syndrome in humans?

A member asked:

I am currently pregnant after multiple miscarriages. i tested my hcg at 5 weeks 3 days pregnant and it was 16,557. is this an indication of a possible chromosomal abnormality, such as down syndrome?

A member asked:

Can you have a child with the physical characteristics of edwards syndrome but not have any chromosomal abnormalities?

A member asked:

Does measuring small during first us appt (being 1 week off - measured 6w2d, should be 7w2d) indicate issues down the line (i.e. increased risk for down syndrome or other chromosomal abnormalities, etc.)?

A member asked:

I have severe heart disease, malformations of my heart chromosomal abnormalities, cognitive impairments, marfan syndrome in my family, mental illness, can i be exempt from the vaccination? if so, how?

A member asked:

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

A member asked:

What sort of disease is a chromosomal abnormality?

A member asked:

What is the main cause of chromosomal abnormality in fetus?

A member asked:

What is the difference between a mutation and a chromosomal abnormality?

A member asked:

Is osteogenesis imperfecta considered a chromosomal abnormality?

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