Testing Sex

Rachel Rebouché*

A revolution has happened in prenatal testing. Ushering in this change is a new prenatal test that relies on a simple blood sample collected from a pregnant woman.[1] From the beginning of pregnancy, cell-free fetal DNA travels across the placental lining into the mother’s bloodstream, increasing in quantity as the pregnancy progresses.[2] Potential parents can test that DNA for chromosomal abnormalities and for fetal sex after ten weeks of gestation, which is several weeks before a reliable ultrasound and seven weeks before an amniocentesis can be performed.[3] As numerous newspaper and popular media articles report, what women can discover during their pregnancies will continue to evolve dramatically over the next ten years.[4] This new non-invasive prenatal test (“NIPT”), coupled with advances in gene sequencing, could give parents information about all manner of traits, disorders, and propensities—from susceptibility to serious diseases, such as cancer and heart disease, to superficial traits, such as hair and eye color.[5] The test is easy to perform, close to 100% accurate for fetal sex, and currently in clinical and commercial use.[6]

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*Associate Professor of Law, Temple University Beasley School of Law. Many thanks to Jane Baron, Nancy Dowd, Mark Fenster, Paul Gugliuzza, Janet Halley, Meredith Harbach, Dave Hoffman, Prabha Kotiswaran, Tom Lin, Laura Little, Greg Mandel, Muriel Morisey, Danielle Piñol, Mark Rahdert, Brishen Rogers, Hila Shamir, and Chantal Thomas for their comments. This article benefited from the remarks of participants at the Emory Law Workshop on Reproduction and Sexuality, Northeastern Law Workshop on Sexuality and Reproduction, Emerging Family Law Scholars Workshop, Harvard Institute on Global Law and Policy, Wisconsin Law Class Crits Conference, Tel Aviv University Governance Without a State Conference, Case Western Law & Medicine Conference, and Temple Law 10/10 Workshop.

[1].   See Henry T. Greely, Get Ready for the Flood of Fetal Gene Screening, 469 Nature 289, 289 (2011).

[2].   Id. at 290.

[3].   Stephanie A. Devaney et al., Non-Invasive Fetal Sex Determination Using Cell-Free Fetal DNA, 306 J. Am. Med. Ass’n 627, 634 (2011) (stating that fetal DNA can be tested accurately between seven and twelve weeks of gestation while ultrasound is unreliable before eleven weeks); 105 Am. Jur. 3d, Proof of Facts § 3 (3d ed. 2009) (indicating that amniocentesis is performed at about sixteen weeks gestation). In amniocentesis, a long spinal needle is inserted through the abdomen and the wall of the uterus into the amniotic sac surrounding the fetus. Id. Another form of prenatal testing is Chorionic Villus Sampling (“CVS”), in which a thin catheter, inserted through the cervix, gathers cells from the placenta. Id. CVS can occur earlier than amniocentesis, at ten to twelve weeks. Id. However, CVS has a slightly higher risk of causing miscarriages than amniocentesis. Lynn B. Jorde et al., Medical Genetics 269 (4th ed. 2010).

[4].   See, e.g., Lindsay Abrams, Prenatal Testing: Earlier and More Accurate Than Ever, Atlantic (Nov. 5, 2012, 9:30 AM), http://www.theatlantic.com/health/archive/2012/11 /prenatal-testing-earlier-and-more-accurate-than-ever/264472/2/; Erin Biba, This Simple Blood Test Reveals Birth Defects—And the Future of Pregnancy, Wired (Dec. 24, 2012, 6:30 AM), http://www.wired.com/2012/12/ff-prenatal-testing/all/; Carolyn Y. Johnson, DNA Blood Test Can Detect Prenatal Problems, Bos. Globe (Feb. 26, 2014), http://www.bos tonglobe.com/lifestyle/health-wellness/2014/02/26/new-study-suggests-prenatal-genetic-tes ts-could-offered-all-pregnant-women/V1GQuRL4jkr1M6Oe1XcQCK/story.html; Jonathan Lapook, New DNA Test Could Revolutionize Prenatal Screening, CBS News (Feb. 26, 2014, 7:20 PM), http://www.cbsnews.com/news/new-dna-test-could-revolutionize-pre-natal-screening/; Marilynn Marchione, The Big Story: DNA Blood Tests Show Prenatal Screening Promise, Associated Press (Feb. 26, 2014, 6:07 PM), http://bigstory.ap.org/article/ dna-blood-tests-show-prenatal-screening-promise; Steven Salzberg, A DNA Sequencing Breakthrough That Many Expectant Moms Will Want, Forbes (Mar. 9, 2014, 8:00 AM), http://www.forbes.com/sites/stevensalzberg/2014/03/09/a-dna-sequencing-breathrough-th at-many-expectant-moms-will-want/; Michael Specter, The Gene Factory, New Yorker Jan. 6, 2014, at 34, 40, available at http://www.newyorker.com/magazine/2014/01/06/the-gene-factory; Rob Stein, Blood Test Provides More Accurate Prenatal Testing for Down Syndrome, Nat’l Pub. Radio (Feb. 26, 2014, 5:01 PM), http://www.npr.org/blogs/health /2014/02/26/282095202/blood-test-provides-more-accurate-prenatal-testing-for-down-syndr ome; Christopher Weaver, Tough Calls on Prenatal Tests: Companies Race to Promote New Genetic Screen for Down Syndrome; Worries About Patient Confusion, Wall St. J., Apr. 4, 2013, at B1, available at http://online.wsj.com/news/articles/SB1000142412788732 4883604578398791568615644.

[5].   See Bernard M. Dickens, Ethical and Legal Aspects of Non-Invasive Prenatal Genetic Diagnosis, 124 Int’l J. Gynecology & Obstetrics 181, 181–82 (2014) (“What was once a cavernous divide between the outer reaches of imaginative science fiction and the reality of the limited capacity of prevailing biotechnology is becoming progressively narrowed, making it foreseeable to achieve complete gene sequencing of an early fetus in utero by resort to cffDNA testing.”); Jaime S. King, And Genetic Testing for All . . . The Coming Revolution in Non-Invasive Prenatal Genetic Testing, 42 Rutgers L.J. 599, 599–600, 656 (2011) (noting that non-invasive prenatal tests relying on cffDNA can detect Down syndrome, trisomy 13, fetal sex, and other genetic characteristics); John A. Robertson, Abortion and Technology: Sonograms, Fetal Pain, Viability, and Early Prenatal Diagnosis, 14 U. Pa. J. Const. L. 327, 370–73 (2011) [hereinafter Robertson, Abortion and Technology].

[6].   Ashwin Agarwal et al., Commercial Landscape of Non-Invasive Prenatal Testing in the United States, 33 Prenatal Diagnosis 521, 521–23 (2013) (“Several applications of NIPT . . . are already in use, and testing for common chromosomal aneuploidies such as trisomies 13, 18, and 21 became commercially available in 2011.”); Antina de Jong et al., Non-Invasive Prenatal Testing: Ethical Issues Explored, 18 Eur. J. Hum. Genetics 272, 272 (2010) (noting that testing can be easy and safe); Abrams, supra note 4 (noting that the test can be completed with 99.92% accuracy).