Prenatal Genome Testing Sparks Debate

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

“…Most pregnancies with ultrasound anomalies show a normal karyotype and are therefore likely to benefit from high-resolution analysis. However, as reviewed by Friedman4 and Kuehn,5 the use of microarrays in prenatal diagnosis remains an ongoing debate, in particular because of the possible detection of copy number variants (CNVs) for which the clinical consequences are uncertain or unknown. To avoid such findings, most papers so far report on the use of targeted or relatively low-resolution arrays, either during or after pregnancy 6–13.…”

Preimplantation Genetic Testing: Indications and Controversies

“…Current techniques for preimplantation aneuploidy screening have not been shown to improve live birth rates after IVF 62–64 , and there is growing concern that newer genetic tests are being offered clinically without studies to support their utility 65 . Some have argued that these newer techniques are more accurate while others have argued that clinicians are motivated by financial gain in offering these tests 59 .…”

Prenatal Testing and Disability: A Truce in the Culture Wars?

“…Thus, prospective parents might decide to terminate a pregnancy based on an inaccurate picture of future health risks to a child. 6 Brownback-Kennedy seeks to ensure that prospective parents receive information about the accuracy of all prenatal diagnostic tests. Information control plays a growing role in abortion policy.…”