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Amniocentesis and diagnosis of genetic diseases in the fetus during pregnancy
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If you’re living with significant pain and discomfort from an orthopedic(musculoskeletal) condition, you know firsthand how much it can affect your quality of life. Seemingly simple tasks like walking, climbing stairs or evenstanding become much more difficult. On a positive note, our bone, joint and muscle specialists are here to get you moving again.
What is amniocentesis?
It is a medical procedure performed during pregnancy to take a small sample of the amniotic fluid surrounding the fetus, because this fluid contains:
• Fetal cells
• Genetic material (DNA)
This allows for the diagnosis of many genetic and chromosomal diseases with high accuracy.
When is amniocentesis performed?
Usually between the 15th and 20th week of pregnancy.
It may be performed earlier or later depending on medical advice.
Reasons for performing amniocentesis
Your doctor may request the procedure in the following cases:
• High risk of the fetus having a genetic disorder
• Abnormal blood test or ultrasound results
• Pregnant women over 35 years of age
• Previous child with a genetic disorder
• Family history of genetic disorders
• To detect chromosomal abnormalities (such as Down syndrome)
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What does amniocentesis detect?
It can diagnose a large number of disorders, such as:
• Down syndrome
• Edwards syndrome
• Patau syndrome
• X and Y chromosome abnormalities
• Thalassemia
• Sickle cell anemia
• Cystic fibrosis
• Muscular dystrophy
• Metabolic diseases
• Specific familial mutation diseases
How is the procedure performed?
• Ultrasound to determine the position of the fetus and placenta.
• The abdominal area is thoroughly cleaned.
• A thin needle is inserted through the skin into the amniotic fluid under ultrasound guidance.
• A small amount (about 20 ml) is withdrawn.
• The fetal cells are genetically tested.
The procedure is usually painless, similar to a deep blood draw, and takes only 1–2 minutes.
Accuracy of results
Are there any risks?
The procedure is very safe when performed by a specialist, but some rare complications may occur:
Alternatives to amniocentesis
Other alternatives may be used in certain cases:
Our Industry Expertise
You know your body better than anyone, so when aches, pains or sprains make your life more challenging, it’s a good idea to seek help from specialists. At Tufts Medicine, you’ll have a care team of experts — who can help you find relief when you’re living with the following conditions:
Our Treatment Process
Whether you’ve been living with symptoms for a while or you’ve just started noticing muscle or bone pain, we can help pinpoint what’s ailing you:
Stimulating the ovaries to
produce multiple eggs
Retrieving the eggs
from the ovaries
Collecting a sperm sample
from the husband
Fertilizing the eggs with the
sperm in the laboratory
Transferring the embryos to the uterus after several
days of development
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