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. 2019 Feb 19;19(4):1–166.

Table 11:

Prenatal Screening Pathways for Pregnant People, Summary

Strategy Screening Test Second Testa Third Testb
Strategy 1: Traditional Prenatal Screening Without NIPT
First trimesterc eFTSd CVS (70%) or amniocentesis (30%) NA
Second trimestere MSSf Amniocentesis (100%) NA
Strategy 2: Second-Tier NIPT
First trimesterc eFTSd NIPT or amniocentesis for very high-risk pregnanciesg Amniocentesish
Second trimestere MSSf NIPT or amniocentesis for very high-risk pregnanciesg Amniocentesish
Strategy 3: First-Tier NIPT
First trimesterc NIPT + NT ultrasound CVS (70%) or amniocentesis (30%) Not applicable
Second trimestere NIPT Amniocentesis (100%) Not applicable

Abbreviations: CVS, chorionic villus sampling; eFTS, enhanced first-trimester screening; MSS, maternal serum screening (also known as quadruple screening); NA, not applicable; NIPT, noninvasive prenatal testing; NT, nuchal translucency.

a

CVS and amniocentesis are diagnostic tests for confirming the results of a positive first test. Second-tier NIPT is still a screening test.

b

Amniocentesis is for confirming the results of a positive NIPT test.

c

90% of people who receive prenatal screening.

d

eFTS consists of a single blood test, which includes pregnancy-associated plasma protein A, free β-human chorionic gonadotrophin, placental growth factor, and α-fetoprotein. As well, eFTS includes NT ultrasound.

e

10% of people who receive prenatal screening.

f

MSS (quadruple screening) consists of a single blood test, which includes α-fetoprotein, unconjugated oestriol, free β-human chorionic gonadotrophin, and inhibin-A.

g

People who have a trisomy 21 risk > 1/10 or nuchal translucency ≥ 3.5 mm.

h

Only for people who had second-tier NIPT.