Top
40
Doctor insights on: Tests During Pregnancy For Downs Syndrome

Share
1

1
Does the panorama blood test during pregnancy test for mosaic downs syndrome as well?

Does the panorama blood test during pregnancy test for mosaic downs syndrome as well?

See answer and link: This test may not be able to identify abnormalities or may report a positive result in the presence of mosaicism (which may be confined to the placenta). http://www.questdiagnostics.com/testcenter/testguide.action?dc=TH_Panorama_Prenatal_Test ...Read more

Dr. Michael Kleerekoper
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


2

2
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. ...Read more

See 1 more doctor answer
3

3
Will a vanishing twin (lost at 7 weeks) affect first trimester downs syndrome testing with blood test and ultrasound?

Will a vanishing twin (lost at 7 weeks) affect first trimester downs syndrome testing with blood test and ultrasound?

Vanishing twin: No, it would not affect your test result. Ultrasound would show it for a while, but the developing twin will eventually grow big enough to hide it from view. ...Read more

4

4
How early in a pregnancy can I have genetic testing done for downs syndrome?

How early in a pregnancy can I have genetic testing done for downs syndrome?

After10 weeks: First trimester screening can be done at 11-13 weeks. Definitive diagnosis by chromosome analysis can be done through cvs sampling after 10 weeks. ...Read more

See 1 more doctor answer
5

5
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. ...Read more

6

6
Baby's Down syndrome test results are definite, right?

Baby's Down syndrome test results are definite, right?

Chromosome accurate: If you mean chromosomal analysis, the results will be definite. ...Read more

See 1 more doctor answer
7

7
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! ...Read more

8

8
Is there a genetic test during pregnancy for scid?

Is there a genetic test during pregnancy for scid?

See below: There is no scid test for the fetus during pregnancy. Newborn screening for scid is available but varies from state to state. ...Read more

See 1 more doctor answer
9

9
What are the tests for diabetes onset during pregnancy?

What are the tests for diabetes onset during pregnancy?

FBG and OGTT: Fbg is fasting blood glucose (sugar) and ogtt is an oral glucose tolerance test. For the ogtt, a woman comes in fasting, drinks a sweet liquid with a set amount of glucose. Blood is drawn just before the woman drinks the glucose solution, and at several time points afterwards for up to 3 hours (~ 4 draws total). Having a high glucose for two of the readings means she has gestational diabetes. ...Read more

10

10
Penta test came back for having high risk of Down Syndrome. How accurate is this test? Will Panorama possibly be negative?

Could be: there may be a one-in-five chance of a false positive or even a one-in-two chance, depending on the mother’s age. If the panorama is negative, then it was likely that the penta test did not screen properly. ...Read more

11

11
Fetus's tissue testing on D&C (8 weeks and 2nd early MC) showed turners syndrome in the feutus. Future pregnancy implications of this? Any precautions

Fetus's tissue testing on D&C (8 weeks and 2nd early MC) showed turners syndrome in the feutus. Future pregnancy implications of this? Any precautions

Generally no: In general, in each subsequent pregnancy, the chance of having another pregnancy affected by Turner syndrome would not be increased given that it occurs due to a random error in the splitting of chromosomes during the creation of sperm usually, though sometimes also the egg. Unlikely to recur in a first time case. ...Read more

13

13
16 weeks pregnant, Down syndrome screening test positive, 1/150 chance that baby might have abnormality. Will do amnio. Please explain what results mea?

16 weeks pregnant,  Down syndrome screening test positive, 1/150 chance that baby might have abnormality. Will do amnio. Please explain what results mea?

High Risk for Downs: The screening test result means that you have a 1 in 150 chance that your fetus has down syndrome. While this is considered a positive screen, the chance is still less than 1%. Rather than an amino, you might consider a blood test like the maternit-21, which can be done from your blood and is greater than 99% accurate. Discuss this option with your ob. ...Read more

14

14
When can a pregnancy test detect pregnancy without parents consent?

When can a pregnancy test detect pregnancy without parents consent?

Anytime: There are no restrictions in purchasing a home pregnancy test. Nome pregnancy tests become positive at about he time you'r start your next expected period. If it's negative, repeat in 1 week and see your doctor.St. ...Read more

15

15
Thoughts? Could poly cystic ovarian syndrome (pcos) affect the results of a home pregnancy test?

Thoughts? Could poly cystic ovarian syndrome (pcos) affect the results of a home pregnancy test?

No: Pcos may make it harder to get pregnant in the first place, but once pregnant the tests are unaffected. ...Read more

16

16
Is there any home method to check pregnancy ? Except missed periods ,pregnancy test kit and ultrasound

Is there any home method to check pregnancy ? Except missed periods ,pregnancy test kit and ultrasound

Tincture of time: The only other method that you haven't mentioned is time itself. "Whatever you do in the dark will come to the light eventually" is the applicable adage for that situation. ...Read more

17

17
Can karotyping detect 22q11.2 deletion syndrome? What is the standard pediatricians use if they are testing for genetic disorders?

 Can karotyping detect 22q11.2 deletion syndrome? What is the standard pediatricians use if they are testing for genetic disorders?

No: Usually for a 22q11.2 syndromes, a diagnostic technique called FISH is performed. There are numerous ways to detect genetic issues and the diagnostic modality will depend on what one is looking for. This may include simple karyotyoing to more sophisticated gene sequencing. A genetic counselor may be able to help you. ...Read more

18

18
Will drinking during pregnancy always result in fetal alcohol syndrome?

Will drinking during pregnancy always result in fetal alcohol syndrome?

Not always, but...: Alcohol can damage a baby's brain causing cognitive, learning, emotional and behavior problems. We don't know how much alcohol it takes, but we do know that drinking too much on just a few occasions can cause FAS even if you don't drink at all during the rest of the pregnancy! best option—no drinking while pregnant. Next best—stop drinking as early as possible in pregnancy. ...Read more

See 3 more doctor answers
19

19
Can blood tests determine pregancy at 2-3weeks pregnant?

Can blood tests determine pregancy at 2-3weeks pregnant?

Yes: Yes..Blood tests can pick up pregnancy very early..Sometimes as early as 7-10 days from conception. Important to remember that most women don't know exactly when conception actually occurred. Also, blood and urine tests only tell you of pregnancy..A single test does not assure a normal pregnancy or even normal location (could be ectopic - out of uterus). ...Read more

20

20
Could post partum depression cause a false at home pregnancy test?

Could post partum depression cause a false at home pregnancy test?

Not likely: But you deserve to be treated for your post partum depression. You can have the positive test confirmed by your doctor and if you are pregnant is is especially important to get care for your depression. ...Read more

21

21
Does the panorama blood test during pregnancy test for mosaic downs syndrome as well?

See answer and link: This test may not be able to identify abnormalities or may report a positive result in the presence of mosaicism (which may be confined to the placenta). http://www.questdiagnostics.com/testcenter/testguide.action?dc=TH_Panorama_Prenatal_Test ...Read more

22

22
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. ...Read more

23

23
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. ...Read more

See 1 more doctor answer
24

24
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

25

25
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. ...Read more

26

26
Explain hellp syndrome (during pregnancy)?

Explain hellp syndrome (during pregnancy)?

I will try: Her is web site could give details on that subject.Good luck. http://en.wikipedia.org/wiki/hellp_syndrome. ...Read more

27

27
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. ...Read more

See 2 more doctor answers
29

29
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! ...Read more

30

30
Does WPW syndrome need to be concerned during pregnancy and labor?

Does WPW syndrome need to be concerned during pregnancy and labor?

No more: than usual....Make sure your OB-GYN knows about your Cardiac History and any Medications you may be on. Get checked by your Internist/Cardiologist during your pregnancy (I suggest each Trimester! Good Luck Healthy Baby!! Hope this helps! Dr Z ...Read more

See 1 more doctor answer
31

31
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. ...Read more

32

32
Does carpal tunnel syndrome get worse during pregnancy?

Does carpal tunnel syndrome get worse during pregnancy?

Yes: There is increased swelling associated with pregnancy and as a result, carpal tunnel syndrome may also get worse. Hand braces may help alleviate symptoms. If you work with your hands, take frequent breaks. Also, avoid excessive salt intake to prevent any further swelling. The symptoms should improve after delivery. ...Read more

See 2 more doctor answers
33

33
Severe headaches during pregnancy. Does this mean I have hellp syndrome?

Severe headaches during pregnancy. Does this mean I have hellp syndrome?

No: Hellp syndrome is a complex af elevated blood pressure, protein in the urine and abnormal lab results. Headaches can be part if this picture. A person can have migraine headaches or other type headaches while pregnant that are not associated with blood pressure changes and therefore not hellp syndrome. ...Read more

See 1 more doctor answer
34

34
How early in a pregnancy can I have genetic testing done for downs syndrome?

After10 weeks: First trimester screening can be done at 11-13 weeks. Definitive diagnosis by chromosome analysis can be done through cvs sampling after 10 weeks. ...Read more

See 1 more doctor answer
35

35
What are the typical prenatal tests to check for down syndrome? What week of pregnancy do they typically test for this?

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

36

36
Will drinking during pregnancy always result in fetal alcohol syndrome?

Not always, but...: Alcohol can damage a baby's brain causing cognitive, learning, emotional and behavior problems. We don't know how much alcohol it takes, but we do know that drinking too much on just a few occasions can cause FAS even if you don't drink at all during the rest of the pregnancy! best option—no drinking while pregnant. Next best—stop drinking as early as possible in pregnancy. ...Read more

See 3 more doctor answers
37

37
How hard is it to diagnose ?Hypoplastic left heart syndrome during?Pregnancy?

How hard is it to diagnose ?Hypoplastic left heart syndrome during?Pregnancy?

Tricky.: Hlhs should be blatantly obvious in the third trimester, if one looks. However, most fetal anatomical surveys are performed at 18-21 weeks, and the full picture of this syndrome may not be esily appreciable at that early point in fetal development. So, in direct answer to your question, hlhs can be missed in over half the cases, unless a late third trimester cardiac evaluation is performed. ...Read more

38

38
Did smoking during pregnancy cause my baby to have meconium aspiration syndrome?

Did smoking during pregnancy cause my baby to have meconium aspiration syndrome?

Perhaps.: Smoking reduces your blood's capacity to carry oxygen to the placenta and fetus, therefore predisposing the baby to mas . I agree that mas is likely due to acute events, but chronic placental failure does not help.. ...Read more

See 2 more doctor answers
39

39
Restless leg syndrome is keeping me up at night. How can I safely manage it during pregnancy?

Restless leg syndrome is keeping me up at night. How can I safely manage it during pregnancy?

Several things: Have your doctor check on whether you might be iron deficient, or have certain vitamin deficiencies (folic acid), both of which can increase RLS symptoms. Avoid caffeine, esp after noon. It is usually transient in pregnancy. Meds used in treatment are cat. C, which means while they have not been proven safe, they haven't been proven harmful in human beings in usual doses. Hot packs may help. ...Read more

See 2 more doctor answers
40

40
If cushing's syndrome is undiagnosed during pregnancy what problems could the baby be born with? Could this cause pituitary dwarfism?

If cushing's syndrome is undiagnosed during pregnancy what problems could the baby be born with? Could this cause pituitary dwarfism?

Not really.: Cushing's doe not appear to be terribly damaging to the fetus. Most complications seen from cushing's in pregnancy result from effects on the health of the mother, which can in turn affect the health of the developing fetus. Common maternal complication is high blood pressure, which can lead to pre-eclampsia, can also predispose to diabetes during pregnancy. Once born, babies are usually normal. ...Read more