8 Maternal Health Checkups You Should Not Miss

4. First-trimester chromosomal screening options

In the first trimester you may be offered screening options that estimate the chance of chromosomal differences. Typical approaches include combined screening, which pairs a blood test with a nuchal translucency ultrasound, and cell-free DNA testing (often called NIPT) that analyzes fetal DNA in maternal blood. These are screening tests, not definitive diagnoses; a positive screen usually leads to counseling and the option of diagnostic tests. Timing matters: combined screening is commonly done in the first trimester window, while NIPT can be offered a little later depending on your clinic. Screening helps families and clinicians anticipate needs and consider specialist referrals when appropriate. If results are concerning, your care team will discuss next steps, which might include genetic counseling. Remember that testing choices are personal — cultural values, family history, and personal priorities all play a role in deciding what to pursue. Talk openly with your clinician about what each test checks for, how reliable it is, and what support is available for follow-up decisions.