First trimester screening helps estimate the baby’s risk for certain chromosomal conditions early in pregnancy. It may include the NT scan, blood tests such as the double marker test, and sometimes NIPT or NIPS.
These tests are useful because they identify pregnancies that may need more counselling or diagnostic testing. They do not replace medical judgement and most are screening tests, not final diagnoses.
What is included in first trimester screening?
The NT scan measures the nuchal translucency behind the baby’s neck between about 11 and 14 weeks. The double marker test measures pregnancy-related blood markers. Results are combined with maternal age and other factors to estimate risk for conditions such as Down syndrome, trisomy 18, and trisomy 13.
Where does NIPT fit in?
NIPT is a blood test from the mother that analyzes cell-free DNA. It is more accurate than traditional serum screening for common trisomies, especially Down syndrome, but it is still a screening test. A high-risk NIPT result usually needs confirmation through diagnostic testing such as CVS or amniocentesis.
Should every parent do every test?
No. Testing choices should be individualized. Some parents choose combined screening; some choose NIPT; some choose diagnostic testing directly if there is high risk or an ultrasound concern. A fetal medicine specialist or genetic counsellor can help you choose based on gestational age, risk, cost, and what information you want.
What if the result is high risk?
A high-risk screen does not confirm that the baby has a condition. It means the chance is higher than expected and further counselling is needed. Depending on the situation, the next step may be detailed ultrasound, NIPT, CVS, amniocentesis, karyotype, FISH, or microarray.
What if the result is low risk?
A low-risk result is reassuring but not a guarantee. Routine pregnancy care and the anomaly scan remain important. If a later ultrasound shows a concern, diagnostic testing may still be discussed.
The best first trimester screening plan is one that gives useful information without overwhelming parents. Clear counselling before and after the test matters as much as the test itself.