NIPS: Microdeletions, Macro Questions
By Katie Stoll,
The DNA Exchange
| 11. 02. 2014
Untitled Document
At the recent National Society of Genetic Counselors Annual Education Conference in New Orleans, a presentation raised some important questions about noninvasive prenatal screening (NIPS). According to the speaker, a woman with a vanishing twin pregnancy underwent NIPS with an expanded microdeletion panel and the results showed findings “suggestive” of a chromosomal microdeletion syndrome.
The patient underwent amniocentesis with a SNP microarray and the results were normal. In a follow-up call with the NIPS lab, the genetic counselor learned that multiple copy number variants were observed (not originally reported) in the original sample. The lab suggested that these variants could be associated with a malignancy or fibroid tumor (and were of course unlikely to be associated with a microdeletion syndrome in the fetus).
As a result of this genetic counselor’s follow-up phone call and due diligence, the patient underwent an extensive work up for possible cancer, but no explanation was found. NIPS was repeated and this follow-up study was normal.
My first thought in hearing this case was – That poor woman! First a lost twin pregnancy, then...
Related Articles
CGS is excited to announce the launch of a new anti-eugenics initiative that has been years in the making. Legacies of Eugenics in Science, Medicine, and Technology kicks off with a monthly essay series published at the Los Angeles Review of Books that will expose and contest the reemergence of eugenic ideas in contemporary health sciences, human biotechnology, public health, and medicine. Community and campus-based events featuring the authors are also being planned. The project is a collaboration among CGS...
By Jason Kehe, Wired | 04.11.2024
God help the babies! Or, absent God, a fertility startup called Orchid. It offers prospective parents a fantastical choice: Have a regular baby or have an Orchid baby. A regular baby might grow up and get cancer. Or be born...
By Neel Shah, The Preprint | 04.11.2024
Years ago, I interviewed for a residency position at The Johns Hopkins Hospital in Baltimore. Standing before the domed Victorian building at the campus entrance, I couldn’t help but be in awe of the history of the place, the great...
By Eleanor Hayward and Joanna Crawford, The Times | 03.29.2024
Gazing out at the Mediterranean from an idyllic rocky mountaintop, Sophie Hermann announced to her half a million Instagram followers that she had decided to freeze her eggs. Since that post in August, the 37-year-old former Made in Chelsea star...