SWHR

Noninvasive Prenatal Screening Resource Guide for Women

Screening for genetic conditions can be done using a number of different methods and at different time points in a person’s life, depending on the type of condition being screened. However, genetic screening is often associated with pregnancy and childbirth. Different genetic screenings available before, during, and after pregnancy each offer unique insights.

Noninvasive prenatal screening (NIPS) is used to assess the risk of chromosomal aneuploidy – an irregular number of chromosomes – in the developing baby in the womb. NIPS (also referred to as cfDNA screening) can be performed as early as 10 weeks into a pregnancy and is considered noninvasive because the required blood draw poses minimal to no risk to mother or baby.

Even though the process is simple, NIPS should only be done after a woman is provided education and information about the process, risks, and benefits of NIPS, and gives her informed consent to proceed. This guide created by the Society for Women’s Health Research (SWHR) aims to provide essential information for understanding NIPS so that women may have informed conversations with their providers before undergoing prenatal genetic screening: Noninvasive Prenatal Screening Resource Guide for Women.

The resource guide explores which genetic conditions can be screened by NIPS, navigating the NIPS process, tips for talking with a health care provider about NIPS and follow-up diagnostic tests, a patient checklist, and key genetic screening terms and resources to support individuals on their pregnancy health care journey.

Remember: Screening is not the same as diagnostic testing. Genetic screening results cannot provide a definitive diagnosis. NIPS results can provide information about the potential for your baby to have certain genetic conditions, and should be followed up with diagnostic tests as needed.

DOWNLOAD THE NIPS RESOURCE GUIDE

 

Screening for genetic conditions can be done using a number of different methods and at different time points in a person’s life, depending on the type of condition being screened. However, genetic screening is often associated with pregnancy and childbirth. Different genetic screenings available before, during, and after pregnancy each offer unique insights.

Noninvasive prenatal screening (NIPS) is used to assess the risk of chromosomal aneuploidy – an irregular number of chromosomes – in the developing baby in the womb. NIPS (also referred to as cfDNA screening) can be performed as early as 10 weeks into a pregnancy and is considered noninvasive because the required blood draw poses minimal to no risk to mother or baby.

Even though the process is simple, NIPS should only be done after a woman is provided education and information about the process, risks, and benefits of NIPS, and gives her informed consent to proceed. This guide created by the Society for Women’s Health Research (SWHR) aims to provide essential information for understanding NIPS so that women may have informed conversations with their providers before undergoing prenatal genetic screening: Noninvasive Prenatal Screening Resource Guide for Women.

The resource guide explores which genetic conditions can be screened by NIPS, navigating the NIPS process, tips for talking with a health care provider about NIPS and follow-up diagnostic tests, a patient checklist, and key genetic screening terms and resources to support individuals on their pregnancy health care journey.

Remember: Screening is not the same as diagnostic testing. Genetic screening results cannot provide a definitive diagnosis. NIPS results can provide information about the potential for your baby to have certain genetic conditions, and should be followed up with diagnostic tests as needed.

DOWNLOAD THE NIPS RESOURCE GUIDE

 

What’s in the Guide?

Learn more by checking out the guide Key Terms and Resources & References sections.

This resource guide is part of SWHR’s Noninvasive Prenatal Screening Program, launched in 2021 to address both barriers to access and reducing health disparities related to preconception and prenatal genetic screening for women. The program engages genetic counselors and clinicians, medical professional society leaders, patients and patient advocates, diagnostic company scientists, and health care decision-makers to explore strategies to address knowledge gaps, unmet patient needs, and relevant policies that present barriers to equitable and quality care for women surrounding genetic screening.

This document is intended to serve as an educational and informative resource and is not intended or implied to serve as a substitute for medical or professional advice. The Society for Women’s Health Research does not make medical, diagnosis, or treatment recommendations, nor does it endorse or promote specific screening or diagnostic tests. Patients and consumers should confirm information and consult a professional health care provider to determine individual needs. The Society will not be liable for any direct, indirect, or other damages arising therefrom.  

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Sponsor

SWHR’s Noninvasive Prenatal Screening Program is supported by an educational sponsorship from Illumina, Inc. SWHR maintains editorial control and independence over educational content.

This material was created by the Society for Women’s Health Research (SWHR) and is intended to serve as a public educational and informative resource. This material may be cited or shared on external channels, websites, and blogs, with attribution given to SWHR, or printed and displayed in its original formatted version. SWHR encourages the sharing and reposting of its content in order to spread awareness around women’s health issues. For specific questions about sharing SWHR content, please reach out to communications@swhr.org