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Doctor insights on: Sign Of Down Syndrome In Pregnancy

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Dr. Joy Jackson Dr. Jackson
Family Medicine
15 years in practice
1

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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

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: 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.

Dr. James Krick
4 Doctors shared insights

Pregnancy (Definition)

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


Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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What is Down syndrome in pregnancy and what are the risk factors for it?

What is Down syndrome in pregnancy and what are the risk factors for it?

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.

Dr. Johanna Fricke Dr. Fricke
Pediatrics - Developmental & Behavioral
46 years in practice
University of Alabama School of Medicine
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How often is the testing for Down syndrome during pregnancy wrong?

How often is the testing for Down syndrome during pregnancy wrong?

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.

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Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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Down syndrome pregnancy testing came back as abnormal, what does this mean?

Down syndrome pregnancy testing came back as abnormal, what does this mean?

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.

Dr. Melissa Gowans Dr. Gowans
Pediatrics
17 years in practice
St. George's University School of Medicine
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Is it true that high hog levels in early pregnancy is linked to down syndrome?

Is it true that high hog levels in early pregnancy is linked to down syndrome?

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).

Dr. Oscar Novick Dr. Novick
Pediatrics
54 years in practice
University of Bern Faculty of Medicine
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Dr. Alissa Zenack Dr. Zenack
Pediatrics
18 years in practice
University of New England College of Osteopathic Medicine
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When during pregnancy can doctors first detect that your baby has down syndrome?

When during pregnancy can doctors first detect that your baby has down syndrome?

Trisomy 21: Down syndrome can be detected 2 different ways during pregnancy. At 11-13 weeks, doctors can do a cvs test and at 16-20 weeks, a doctor can do an amniocentesis. You should speak to your OB if you have any concerns. Be well!

Dr. William Singer Dr. Singer
Pediatrics - Neurology
47 years in practice
State University of New York Upstate Medical University
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Which stage of pregnancy can doctors first detect that your baby has down syndrome?

Which stage of pregnancy can doctors first detect that your baby has down syndrome?

Down syndrome detect: There has been a new test for down syndrome that promises to have an accurate diagnosis very early in a pregnancy. Amniocentesis is usually done at 12 to 16 weeks of the pregnancy.

Dr. Elizabeth Wallen Dr. Wallen
Pediatrics
31 years in practice
The Wright State University Boonshoft School of Medicine
9
Dr. Johanna Fricke Dr. Fricke
Pediatrics - Developmental & Behavioral
46 years in practice
University of Alabama School of Medicine
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When do they test for Down syndrome during pregnancy?

When do they test for Down syndrome during pregnancy?

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.

Dr. Johanna Fricke Dr. Fricke
Pediatrics - Developmental & Behavioral
46 years in practice
University of Alabama School of Medicine
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Should someone test for Down syndrome during pregnancy?

Should someone test for Down syndrome during pregnancy?

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 in women wil be 35 or older at the time of full-term delivery. Though screening for DS is highly recommended, pregnant women can choose not to have it done.

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Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
12

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Can you tell me about causes of high risk of Down syndrome during pregnancy?

Can you tell me about causes of high risk of Down syndrome during pregnancy?

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.

Dr. Johanna Fricke Dr. Fricke
Pediatrics - Developmental & Behavioral
46 years in practice
University of Alabama School of Medicine
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Can an ultrasound tell me if baby will have problems such as Down syndrome etc? If so in which month of pregnancy?

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.

Dr. Lynne Weixel Dr. Weixel
Clinical Psychology
32 years in practice
University of Connecticut School of Medicine
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Is high hCG in early pregnancy (5-6 weeks) and indicator of down syndrome?

Is high hCG in early pregnancy (5-6 weeks) and indicator of down syndrome?

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.

Dr. Johanna Fricke Dr. Fricke
Pediatrics - Developmental & Behavioral
46 years in practice
University of Alabama School of Medicine
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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.

Dr. Gerard Honore Dr. Honore
Fertility Medicine
25 years in practice
Wake Forest University School of Medicine
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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?

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.

Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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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.

Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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Will cystic fibrosis mutation test detect Down syndrome during pregnancy?

Will cystic fibrosis mutation test detect Down syndrome during pregnancy?

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.

Dr. Carolyn Thompson Dr. Thompson
Obstetrics & Gynecology
24 years in practice
East Tennessee State University James H. Quillen College of Medicine
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Dr. William Goldie Dr. Goldie
Pediatrics - Neurology
44 years in practice
UC San Diego School of Medicine
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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?

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.

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Dr. Kathryn Akin
651 Doctors shared insights

Down Syndrome (Definition)

A genetic chromosome 21 disorder causing ...Read more