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A 40-year-old member asked:

are down's syndrome screening tests accurate?

3 doctor answers4 doctors weighed in
Dr. Padmavati Garvey
A Verified Doctoranswered
A US doctor answeredLearn more
Yes: Amniocentesis is 100% accurate. The blood test screening tests are 85-95% accurate.
Dr. William Goldie
Pediatric Neurology 48 years experience
To a degree: The definitive testing involves chromosomes to look at the chromosome 21. Alphafetal protein levels may be elevated, but just suggest risk. Fetal ultrasounds may also suggest risk. Chromosome testing is definitive.
Dr. Brian Enggano
Obstetrics and Gynecology 12 years experience
Yes: Screening tests are measurements of certain hormones/proteins in your blood. They are not diagnostic of chromosomal problems but they do indicate if you are at higher risk and whether you should be offered further diagnostic testing. Different tests have different detection rates and which one you receive will depend on your doctor's office resources/laboratory. Discuss this with your doctor.

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A 37-year-old member asked:

When do I need to get my baby a hearing screen?

1 doctor answer8 doctors weighed in
Dr. Lisa Roberts
Pediatrics 23 years experience
At birth!: It is now recommended universally for babies to be screened for congenital hearing problems right after birth. This should be done at the hospital your baby is born at and you should receive a written report. If this was not done or if you ever have any concerns about your child's hearing, request that your doctor refer you to a pediatric audiologist.
Dr. David Finke
Dr. David Finke commented
Obstetrics and Gynecology 15 years experience
Usually testing is done in the first 24-48 hours of birth.
Sep 26, 2011
A 35-year-old member asked:

Do I need to have down's screening tests?

2 doctor answers12 doctors weighed in
Dr. Amy Herold
A Verified Doctoranswered
A US doctor answeredLearn more
No: Genetic screening is always offered, however, it is not required that you have testing done. I ask patients to think about what they would do with the information if the test comes back positive and whether they feel like they would want to be prepared if there was an abnormal result. Most women choose to have some type of genetic testing, but many decline any screening tests.
A 21-year-old member asked:

Is there any sort of test for rosacea?

1 doctor answer2 doctors weighed in
Dr. Anifat Balogun
ENT and Head and Neck Surgery 29 years experience
Test for Rosacea: There is no test for rosacea. History and physical examination by your medical provider/ dermatologist is the best way to "test" for rosacea.
A 21-year-old member asked:

What is the test for thalassemia?

4 doctor answers12 doctors weighed in
Dr. Robert Kwok
Pediatrics 33 years experience
Blood tests: Thalassemia is diagnosed by blood tests: routine blood counts, hemoglobin electrophoresis to find out the types of hemoglobin one has in one's blood, and dna analysis to try to see if certain mutations are present.
A 21-year-old member asked:

Is there a test for huntington's disease?

2 doctor answers10 doctors weighed in
Dr. Amanda Xi
Dr. Amanda Xianswered
General Practice 6 years experience
Yes: To determine whether someone has huntington's disease, a gene analysis can be done to detect whether or not a repeating-cag mutation is present on the huntington gene. If the cag sequence in the gene repeats too many times, the gene is abnormal. A meeting with a genetic counselor before and after the test is recommended to determine need for the test and to discuss the results of the test.

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Last updated Sep 28, 2016

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