What Potent Blood: Non-Invasive Prenatal Genetic Diagnosis and the Transformation of Modern Prenatal Care

By Chachkin, Carolyn Jacobs | American Journal of Law & Medicine, January 1, 2007 | Go to article overview

What Potent Blood: Non-Invasive Prenatal Genetic Diagnosis and the Transformation of Modern Prenatal Care


Chachkin, Carolyn Jacobs, American Journal of Law & Medicine


What potent blood hath modest May,

What fiery force the earth renews,

The wealth of forms, the flush of hues....

-Ralph Waldo Emerson1

I. INTRODUCTION

Someday soon, virtually any pregnant woman2 will be able to learn - with 98-99% accuracy - whether her fetus has contracted a serious genetic disorder by undergoing nothing more than an inexpensive, non-invasive blood test. For years, scientists have sought a method of prenatal testing that could boast both high levels of accuracy and low levels of risk. The most promising solution lies in an exciting recent discovery: tiny quantities of fetal cells and DNA cross over into the mother's bloodstream during pregnancy.3 If the fetal genetic material can be successfully isolated from the maternal blood, it can be used to diagnose a number of genetic disorders, such as Down Syndrome, cystic fibrosis, Tay-Sachs disease, and sickle cell anemia. Indeed, researchers have spent the last decade developing ways to accomplish this.

These new blood tests promise significant advantages over present methods of prenatal testing. Unlike current prenatal screening tests, like ultrasound and chemical assays, this new technology could attain extremely high levels of accuracy and be performed as early as 6-10 weeks' gestation.4 Unlike current prenatal diagnostic tests, like amniocentesis and chorionic villus sampling ("CVS"), the new genetic tests would be non-invasive; as such, they would pose no risk of miscarriage and could be offered to women of all ages and risk levels.5

This article introduces the emerging technology of non-invasive prenatal genetic diagnosis ("NPGD") and argues for its impending potential to revolutionize modern prenatal care. In particular, clinical implementation of NPGD - which is non-invasive, accurate, and inexpensive - could dramatically increase the availability of prenatal genetic testing to all pregnant women, change the standard of care, reduce the incidence of serious genetic disorders, and raise (with even greater force and urgency than past advancements in genetics) numerous ethical, legal, and social questions.

Part II offers a brief overview of the two modern methods of prenatal genetic diagnosis:6 amniocentesis and CVS, both of which are considered "invasive" procedures and pose some risk to both the mother and the developing fetus. Part III explains the science behind two potential noninvasive alternatives for prenatal genetic testing, which I call "maternal serum fetal cell sorting" ("MSFCS") and "maternal plasma DNA recovery" ("MPFDR"). Although clinical implementation of these tests is still years away, scientists expect them to offer high levels of accuracy, early intervention options, and significantly lower prices and costs. Part IV proceeds from the assumption that researchers will successfully develop a highly accurate, clinical version of NPGD and attempts to explain some of the initial legal and social implications, including: NPGD's likely effect of dramatically increasing the number of pregnant women who utilize prenatal genetic testing, its capability of becoming the new standard of care, and its potential to garner both public and private funding through insurance. Finally, Part V discusses several long-term consequences of the likely widespread use of NPGD.

II. PRENATAL GENETIC DIAGNOSIS TODAY

Today, what is termed "prenatal testing" can involve both screening and diagnostic tests. Screening tests impose a lower threshold of accuracy and merely help identify an at-risk population for additional testing, while diagnostic tests are held to stringent accuracy standards (on the order of 98-99% accuracy) and result in a conclusion regarding the fetus's disease status.7

Many women who undergo prenatal genetic testing begin with a screening test. The most common screening tests include: (1) the maternal serum α-fetoprotein ("MSAFP") assay, a maternal blood test measuring levels of α-fetoprotein, which are considerably higher in cases of Down Syndrome;8 (2) the "multiple-" or "triple-marker" screen, which measures maternal blood concentrations of α-fetoprotein, as well as two other chemicals associated with chromosomal abnormalities;9 and (3) ultrasonography, which is used to screen for physical abnormalities (e. …

The rest of this article is only available to active members of Questia

Already a member? Log in now.

Notes for this article

Add a new note
If you are trying to select text to create highlights or citations, remember that you must now click or tap on the first word, and then click or tap on the last word.
One moment ...
Default project is now your active project.
Project items

Items saved from this article

This article has been saved
Highlights (0)
Some of your highlights are legacy items.

Highlights saved before July 30, 2012 will not be displayed on their respective source pages.

You can easily re-create the highlights by opening the book page or article, selecting the text, and clicking “Highlight.”

Citations (0)
Some of your citations are legacy items.

Any citation created before July 30, 2012 will labeled as a “Cited page.” New citations will be saved as cited passages, pages or articles.

We also added the ability to view new citations from your projects or the book or article where you created them.

Notes (0)
Bookmarks (0)

You have no saved items from this article

Project items include:
  • Saved book/article
  • Highlights
  • Quotes/citations
  • Notes
  • Bookmarks
Notes
Cite this article

Cited article

Style
Citations are available only to our active members.
Buy instant access to cite pages or passages in MLA, APA and Chicago citation styles.

(Einhorn, 1992, p. 25)

(Einhorn 25)

1. Lois J. Einhorn, Abraham Lincoln, the Orator: Penetrating the Lincoln Legend (Westport, CT: Greenwood Press, 1992), 25, http://www.questia.com/read/27419298.

Cited article

What Potent Blood: Non-Invasive Prenatal Genetic Diagnosis and the Transformation of Modern Prenatal Care
Settings

Settings

Typeface
Text size Smaller Larger Reset View mode
Search within

Search within this article

Look up

Look up a word

  • Dictionary
  • Thesaurus
Please submit a word or phrase above.
Print this page

Print this page

Why can't I print more than one page at a time?

Help
Full screen

matching results for page

    Questia reader help

    How to highlight and cite specific passages

    1. Click or tap the first word you want to select.
    2. Click or tap the last word you want to select, and you’ll see everything in between get selected.
    3. You’ll then get a menu of options like creating a highlight or a citation from that passage of text.

    OK, got it!

    Cited passage

    Style
    Citations are available only to our active members.
    Buy instant access to cite pages or passages in MLA, APA and Chicago citation styles.

    "Portraying himself as an honest, ordinary person helped Lincoln identify with his audiences." (Einhorn, 1992, p. 25).

    "Portraying himself as an honest, ordinary person helped Lincoln identify with his audiences." (Einhorn 25)

    "Portraying himself as an honest, ordinary person helped Lincoln identify with his audiences."1

    1. Lois J. Einhorn, Abraham Lincoln, the Orator: Penetrating the Lincoln Legend (Westport, CT: Greenwood Press, 1992), 25, http://www.questia.com/read/27419298.

    Cited passage

    Thanks for trying Questia!

    Please continue trying out our research tools, but please note, full functionality is available only to our active members.

    Your work will be lost once you leave this Web page.

    Buy instant access to save your work.

    Already a member? Log in now.

    Oops!

    An unknown error has occurred. Please click the button below to reload the page. If the problem persists, please try again in a little while.