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Prenatal Testing
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Pregnancy Reproduction

Prenatal Testing

Prenatal testing provides vital information about the health of a fetus and the expectant mother, allowing for early detection and preparation for potential health challenges.

What is prenatal testing?

Prenatal testing provides information about the health of your fetus before birth. Some routine tests also monitor the mother's health. These tests may use samples of blood, urine, or fluid from the vagina, cervix, or rectum. Early detection is important because some conditions can be treated before birth; even if a condition is untreatable, early knowledge allows parents to prepare for future challenges.

What is tested?

At the first prenatal visit, providers test for blood problems, infections, and immunity to rubella and chickenpox. Throughout pregnancy, providers may recommend additional tests based on:

  • Age
  • Personal or family medical history
  • Ethnic background
  • Results of routine tests

Common screenings include tests for gestational diabetes, Down syndrome, and HIV.

Types of Prenatal Tests

  • Screening tests: These check for potential health issues and assess risk but do not provide a diagnosis. An abnormal result indicates that more information is needed, often through diagnostic testing.
  • Diagnostic tests: These help determine definitively whether you or your fetus have a specific health problem.

Making a Decision

Prenatal testing is a personal choice. You and your health care provider should discuss the risks, benefits, and the type of information provided by each test to decide which options are appropriate for you.

Frequently Asked Questions

Screening tests (e.g., blood tests, ultrasound, nuchal translucency) estimate the risk of a condition but cannot confirm it. Diagnostic tests (e.g., amniocentesis, chorionic villus sampling) analyze fetal cells or DNA to provide a definitive diagnosis. Choose screening first to assess risk; if high risk or if you have a family history, discuss diagnostic options with your provider.
First‑trimester screening is typically done between 10 and 13 weeks gestation. It combines a blood test (PAPP‑A and hCG) with an ultrasound measurement of nuchal translucency. The combined result gives a risk estimate; if high, a diagnostic test may be offered.
high‑risk result does not confirm a diagnosis. Schedule a diagnostic test (amniocentesis or CVS) for definitive results. In the meantime, consider genetic counseling to understand the implications, potential treatment options, and support resources.
For amniocentesis (usually 15–20 weeks), you should avoid alcohol, certain medications, and any recent invasive procedures. The procedure involves inserting a needle into the uterus to withdraw a small amount of amniotic fluid. Risks include a 0.1–0.3 % chance of miscarriage, infection, or leaking fluid. Discuss your personal risk factors and the potential benefits with your provider.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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