A new test could solve the mystery around miscarriages and give parents answers within hours

Approximately 15-25% of known pregnancies end in miscarriages. About one percent of women experience two or more miscarriages. And yet, not every woman who goes through a pregnancy loss receives answers for how and why it happened. While chromosomal abnormalities are said to be the most common cause of miscarriages, conducting genetic tests on fetal tissue to confirm the same costs thousands of dollars and can take weeks to produce definitive results. Now, a new test could put an end to the mystery surrounding pregnancy losses, giving women faster answers and potentially eradicating the shame and guilt associated with miscarriages.

According to NBC News, this promising development is led by Dr. Zev Williams, director of the Columbia University Fertility Center in New York, who by combining several new technologies, has developed what he says is a faster, cheaper method to test fetal tissue for genetic abnormalities. Williams' new test takes just four hours to produce results and reportedly costs less than $200. "Pregnancy loss has really been, from a patient's point of view, incredibly devastating to be going through, but from a medical and scientific point of view, a black box. We're starting to chip away at that," he said.

Although the revolutionary method wouldn't answer all the questions around miscarriages, it can provide some explanation to grieving parents and their doctors much faster than the current norm. Even today, scientists do not fully understand miscarriages. Experts believe that at least half of early pregnancy losses are due to genetic abnormalities while other causes might be blood clotting disorders, thyroid imbalances, and structural problems in the uterus. Although an array of tests can be conducted to determine the cause, Dr. Scott A. Sullivan—director of maternal-fetal medicine at the Medical University of South Carolina—says most women experience guilt irrespective of the results.

"They say, 'Oh, I shouldn't have had that margarita at eight weeks,' when you didn't even know you were pregnant. Or 'I worked double shifts,'" said Sullivan. Sherisa Rivera and her husband, Will Rivera II, have had five pregnancy losses which have led them to question almost every aspect of their lives. From going vegan for six months to wondering whether a flu shot caused a miscarriage to no longer using fragrance in their laundry detergents, the couple has tried everything. They also got fetal genetic testing after their third miscarriage—a $6,000 test that was only fully covered by health insurance after a lengthy battle.

After 19 long days, their doctor informed them that their unborn child had trisomy 22, a chromosomal disorder that almost never results in a live birth. However, the test did not provide answers for the couple's other miscarriages as experts say it is a rare condition that is not necessarily likely to happen twice in women. "It gave me peace of mind in that I knew my child was not going to suffer," said Sherisa. "It did not remove the fear, anxiety, and trauma that I had experienced."

Williams and his team are now hoping to take the guilt out of the equation by using a genetic testing device developed by Oxford Nanopore Technologies. The pocket-size device has been used in a variety of research applications since it became commercially available in 2015, including outbreaks such as the current coronavirus epidemic. Williams' believes his study would be the first to use the device to read the letters that comprise the genetic material of either the fetus or the placenta after a miscarriage. They have sped up each step of the process from extracting the DNA from the tissue sample to preparing it for sequencing and analyzing the results.

Williams believes couples will be less likely to blame themselves if the test reveals chromosomal abnormalities. If the chromosomal issue is detected in parents, screening embryos through in vitro fertilization would be a solution to make sure only healthy ones are placed in the uterus. If the fetal genetic test comes back normal, doctors can then explore other causes such as a malformation of the uterus or a hormonal issue. Williams hopes to further lower the cost of the test in the future. "The driving force is much more the ability to help and give answers," he said.