›››

›››PRENATAL GENETIC TESTING CHART Related FAQS:

• Prenatal Genetic Screening Tests: www.acog.org/Patients/FAQs/Prenatal-Genetic-Screening-Tests
• Prenatal Genetic Diagnostic Tests: www.acog.org/Patients/FAQs/Prenatal-Genetic-Diagnostic-Tests

First-trimester screening
• Timing: 10–13 weeks
• Blood test plus NT
ultrasound exam
• Screens for Down
• syndrome and trisomy 18

Second-trimester screening (“quad screen”)

• Timing: 15–22 weeks
• Blood test
• Screens for Down syndrome, trisomy 18, and NTDs
Screening Tests

These tests can Standard ultrasound exam

tell you the • Timing: 18–22 weeks

chances that • Screens for some physical defects

your fetus will
have certain Integrated screening and sequential screening
genetic
disorders.
• Timing: 10–22 weeks
• Combines first-trimester and second-trimester screening test results in various ways
• Screens for Down syndrome, trisomy 13, trisomy 18, and NTDs


Cell-free DNA screening
• Timing: 10 weeks and beyond
• Blood test
• Screens for Down syndrome, trisomies 13 and 18, and sex chromosome abnormalities


Carrier testing
• Timing: Can be done at any time but is ideally performed before pregnancy
• Tests use blood or tissue sample (tissue from inside the cheek)
• Detects whether you, your partner, or both carry a mutation in a gene for a certain genetic disorder


CVS
• Timing: 10–13 weeks
Diagnostic Tests

• Tests fetal cells in a

Amniocentesis
These tests - sample of chorionic villi
can tell you • Detects Down syndrome, • Timing: 15 weeks and greater
whether your trisomy 13, trisomy 18, • Tests fetal cells in a sample of amniotic fluid
baby actually and inherited disorders • Detects Down syndrome, trisomy 13,
has certain • for which you request • trisomy 18, inherited disorders for which you• •
genetic • testing but not NTDs • request testing, and certain types of NTDs
disorders.

Weeks 1–4 Weeks 5–8 Weeks 9–12 Weeks 13–16 Weeks 17–20 Weeks 21–24 Weeks 25–28

Weeks of Pregnancy

Prepregnancy First Trimester Second Trimester

PFSI010: This information was designed as an educational aid to patients and sets forth current information and opinions related to women’s health. It is not intended as a statement of
the standard of care, nor does it comprise all proper treatments or methods of care. It is not a substitute for a treating clinician’s independent professional judgment. Please check for neural tube defect.

Abbreviations: CVS, chorionic villus sampling; NT, nuchal translucency; NTD,
updates at www.acog.org to ensure accuracy.
Note: Check your local and state laws regarding the timing and availability of 409 12th Street SW, PO Box 96920
Copyright December 2019 by the American College of Obstetricians and Gynecologists. No part of this publication may be reproduced, stored in a retrieval system, posted on the
internet, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without prior written permission from the publisher. prenatal genetic testing. Washington, DC 20090-6920
www.acog.org