How Genetic Technologies Can Empower More People With Information - Seite 3

About 90% of pregnant people will do another kind of screening, known as non-invasive prenatal screening, or NIPS (NIPT in the US). Milgrom notes that the different NIPS tests, which are often done in the first trimester, vary in terms of chromosomes tested, technology used, and accuracy level.

She adds that people confuse NIPS, which can be done each time a given person becomes pregnant, with carrier screening, which is typically only done once because it shows whether the parents could have a genetic condition to pass on. She says people are also quick to conclude that everything is fine after one all-clear genetic test result, when in fact, new genetic changes can happen during any pregnancy. "The most important thing to communicate to families is that no genetic screening test can provide definitive diagnosis or ever remove all risk. Pregnancy is risky. But there are ways to identify whether you're in an increased risk group, so you can then make reproductive choices in an empowered and proactive way."

Looking back at Eugene's first five years, Milgrom feels a great sense of pride in having helped couples across Australia and New Zealand on their path to parenthood.

"No one chose their DNA," Milgrom says. "It's what makes us who we are. So I have sort of a personal crusade to celebrate genetic diversity by making people know that we all carry variations in our DNA, and if we know about them we can choose whether we act on them or not."

¹Archibald AD, Smith MJ, Burgess T, Scarff KL, Elliott J, Hunt CE, McDonald Z, Barns-Jenkins C, Holt C, Sandoval K, Siva Kumar V, Ward L, Allen EC, Collis SV, Cowie S, Francis D, Delatycki MB, Yiu EM, Massie RJ, Pertile MD, du Sart D, Bruno D, Amor DJ. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genet Med. 2018 Apr;20(5):513-523. doi: 10.1038/gim.2017.134. Epub 2017 Oct 26. Erratum in: Genet Med. 2018 Feb 01;: PMID: 29261177.

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