Diagnosis & Imaging

Amniocentesis

Amniocentesis is a test that samples the amniotic fluid to obtain genetic and other information about the baby.

In short: Amniocentesis

  • It can provide genetic information when a syndrome is suspected.
  • It samples the fluid around the baby.
  • It carries a small procedure-related risk.
  • It is one option for prenatal genetic testing.

What it is

It is a procedure in which a small sample of the amniotic fluid surrounding the baby is collected, usually with a thin needle guided by ultrasound. The fluid contains cells and substances that provide information about the baby.

Understanding Amniocentesis

When an encephalocele is found and a genetic syndrome is suspected, amniocentesis can provide genetic information through testing of the sampled cells (such as a karyotype or microarray). It carries a small procedure-related risk, which the team discusses, so the decision is individualized. It is one option for obtaining prenatal genetic information, alongside chorionic villus sampling.

Why it matters

Understanding amniocentesis helps families weigh the option of prenatal genetic testing, since it can clarify whether a syndrome is present while carrying a small risk that the team will discuss.

Common questions

What does amniocentesis test?

The amniotic fluid, for genetic and other information.

Why might it be offered with encephalocele?

To check for a genetic syndrome.

Does it carry risk?

It carries a small procedure-related risk.

Bottom line

Amniocentesis samples the amniotic fluid for genetic information and may be offered when a syndrome is suspected.

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