Doctor insights on:
Sign Of Down Syndrome In Pregnancy
My 29 year old daughter was told on 3/5 the baby she was carrying had down syndrome. He was delivered on 3/9 at 33 weeks! Although there were signs early enough in the pregnancy like unsuaul water retention because the baby wasn't swallowing food due to a
I am so sorry to hear about this unfortunate situation. This is a question that needs to be posed to the lawyers here on avvo. Com. However, I must tell you that there are a lot of resources for parents that have children with down syndrome. Your daughter should meet with a social worker to get information on all the resources available to her and the baby.
All the best. ...Read more
When your due date arrives, you will be more than ready to have your baby! Most women deliver the baby somewhere between 37 and 42 weeks. According to the American College of Obstetricians and Gynecologists, only 5% of babies arrive on the exact due date. Approximately 7% of babies are not delivered by 42 weeks, and when that happens, it is referred to ...Read more
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
Chromosome analysis: Obtained by amniocentesis or Chorionic Villous Sampling is diagnostic for Trisomy 21, other trisomies & monosomies. It is offered if the calculated statistical risk of DS from screening by blood tests & fetal ultrasounds + maternal age at EDD & family history reaches a cut-off point, often 1:270. This calculated risk method has an 80% detection rate & a 5% false-positive rate. ...Read more
Depends: There are both screening tests and confirmatory tests. Screening tests ale less invasive but less specific. They are designed to take a thousand pregnant women and narrow down that number to 100 that need the more specific/invasive/costly test. Depending on which test you had, the results could mean several things. Call your doc. ...Read more
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
What are the possibility of having a Down syndrome baby for 45 y/o woman? 4th pregnancy and previous children are healthy.
Downs syndrome: The chances of having a downs syndrome baby at age 45 is1 in 30. ...Read more
At what week of pregnancy Down syndrome occur? Can it occur after 12th week of pregnancy due to side effect of some medicine?
Down syndrome: Is a chromosomal abnormality that occurs at conception. ...Read more
Screening for DS,: Offered to all pregnant women, is done after 10 weeks' gestational age, usually at 11-13 weeks. Both the 1st trimester comprehensive screen & the 1st & 2nd trimester integrated screen use fetal ultrasounds, blood tests for specific proteins & hormones & maternal age at delivery to calculate risk of DS. (If 36, risk us 1:294; if 37, 1:227). Diagnostic tests are offered if calculated risk is high. ...Read more
Screening for Down: Syndrome is offered to all pregnant women in the US, regardless of age. If screening test results + maternal age reveal a high risk for DS, diagnostic tests are offered. Risk for DS becomes significantly higher & increases yearly beginning when women wil be 35 at the time of full-term delivery. Though screening for DS is highly recommended, pregnant women can choose not to have it done. ...Read more
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
Can an ultrasound tell me if baby will have problems such as Down syndrome etc? If so in which month of pregnancy?
OB's offer 3 screens: 1st trimester combined test or 1st & 2nd trimester integrated test measure fetal nuchal, or neck, fold on FUS + levels of specific proteins & hormones in your blood. If risk of DS calculated from screen + your age at delivery, 1:350 if 35, 1:270 if 36, is high, choose an FUS for anatomical markers of DS + a cell-free fetal DNA blood test at > 10 wks. Gestation or a more invasive diagnostic test. ...Read more
Discuss w/ Dr.: How high? What specifics? Discuss these concerns w/ your OBGYN. I've heard that the increased risk is specifically about a small portion of the hCG called the beta subunit. If that is high, they consider it an increased risk for Down Syndrome. It's not so much a concern early in pregnancy - they usually test for this between 15-18 weeks and it's part of the quad-screening test. I hope this helps. ...Read more
What are the typical prenatal tests to check for down syndrome? What week of pregnancy do they typically test for this?
Integrated Prenatal: Screening determines risk of Down Syndrome or other Trisomies, calculated from findings on 1st &, often, 2nd trimester Fetal Ultrasounds, 1st & 2nd trimester specific maternal blood tests + gestational & maternal age, so parents can decide if they want a diagnostic test for analysis of fetal chromosomes. See http://www. Womenandinfants. Org/pdc/integrated-screening-test for specific markers. ...Read more
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
My first baby is down syndrome, what is the test must my wife doing during the first trimester of second pregnancy?
Depends: Your risk of a second ds birth is about 1% plus any age factor risk if the first baby was a 21 trisomy. The most specific tests would be chorionic villus sampling or amniocentesis for chromosomal analysis. Cvs can be done in early pregnancy and amniocentesis around 16 wks. Both procedures have some risk to mom and the baby. There are some less invasive but less definitive tests. Ask ur doc. ...Read more
Separate study: If you are having the one study done it is simple enough to arrange for the other study at the same time. They are separate tests and often done at a separate lab. ...Read more
I'm 28 with an IVF pregnancy. My blood work came back with a high chance of down syndrome. Someone said it might be from the ivf?
Not from ivf: Down syndrome is a chromosome defect (trisomy or translocation). It is usually sporatic without cause. It can be familial or related to maternal age. The ivf process does not cause this defect, but the ovum and sperm used may already have the defect. Direct evaluation of fetal cell dna will be necessary to confirm the diagnosis. ...Read more
Hi doctor, in ultra suond. U/s congenital anomaly detect or down syndrome detect during pregnancy?
If there is no sign of Down syndrome in my family, what are the chances I will have a child with downs?
Down's syndrome: Delayed maturation of brain & body, result in small chin, oblique eye fissures with skin folds on inner corners of the eyes, flat nasal bridge, poor muscle tone, protruding tongue, flat face, short neck, lax joints, larger space between big toe & second toe, short fingers, short stature & bowed legs, obesity as they grow older. ...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
Loose tone: The infant with Down syndrome will usual have loose tone, very flexible joints and be delayed in sitting and walking. They usually scoot rather than crawl. Their develop can improve rapidly with good directed play. They usually have problems chewing and swallowing with frequent coughing and chocking. But this will also improve with time. Speech is slow and difficult. ...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 more
Very skilled US: 1st trimester: nuchal translucency wider than normal. Non-Visualization of the nasal bone is sufficient to warrant diagnostic testing. 2nd trimester: most important are cystic hygroma or increased nuchal thickness; dilated ventricles of the brain, absent or small nasal bone, anomalous right subclavian artery. Heart defects, particularly conotruncal, short femur or humerus, duodenal atresia ...Read more
It is typically associated with a delay in cognitive ability (mental retardation, or mr) and physical growth, and a particular set of facial characteristics.
The average iq of young adults with Down syndrome is around 50, whereas young adults without the condition typically have an iq of 100. ...Read more