The new test uses a palm-size device for a method called nanopore sequencing, which was developed to read the sequences of very long strands of DNA. Photo Credit: Columbia University Fertility Center

Health USA6. September 2022

This Small Device Can Test Birth Defects Early On

A group of researchers affiliated with Columbia University in New York, United States, have developed a method to quickly identify extra or missing chromosomes in a cost-effective way, helping women better understand their reproductive mishaps and make more informed decisions.

The new method takes less than two hours, and the test can be conducted in the office itself where the cells or tissue sample is obtained. The palm-size device costs $200 per use, a fraction of the price of current testing procedures which can cost between $1,000 and $2,000 to obtain results that take weeks or months to recieve.

The technique developed at the Columbia University Fertility Center uses nanopore sequencing on small DNA pieces from cells and tissues – either from existing screening procedures of embryos and fetuses or from tissue obtained after miscarriages – and each segment is meant to appear in two copies, one from each chromosome. If there are three copies, there is an extra chromosome. If there is only one, a chromosome is missing. For women living in restricted abortion states where a pregnancy can be terminated within the first 15 or 18 weeks, this test could give them more lead time to make an informed decision.

The New York Times

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