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Maternal Blood DNA Testing for Potential Pregnancy Complications

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Study Finds Genetic Material in the Mother’s Blood may be an Indicator of Pregnancy Complications to Come

Pregnancy testing is as simple as buying a kit to take home from the pharmacy or grocery store and within minutes of taking the test, results appear. Whether positive or negative, the results are life-changing. What if you could take an in-office test soon after becoming pregnant, to predict whether you were more likely to develop pregnancy complications, such as high blood pressure or low blood sugar? A recent study published in Epigenetics and funded by the National Institute of Child Health and Human Development (NICHD) suggests that this may become a reality in the future. The particular procedure may not be as expedient as a pregnancy test, but a non-invasive test that is currently utilized to screen for genetic defects in the fetus, may also be used as an early indicator of future pregnancy complications.

This research shows promise for early detection of conditions arising in some pregnant women, such as preeclampsia and gestational diabetes. Early diagnosis of pregnancy conditions assists women and their physicians with controlling them, so as to protect the health of the mother and preserve the growing fetus’s continued development to full term. Often, pregnancy complications lead to premature delivery and resulting health challenges for the baby, some temporary and some lifelong. It can even cause death. Considering the potentially devastating results of higher risk pregnancies such as these, this latest testing development may help to save lives.

The Predictive Value of the Placenta

The placenta grows from conception to birth and provides essential life-sustaining necessities to the growing fetus, chief among them being oxygen and nutrients. This lifeline that attaches the baby to its mother provides not only life to the fetus, but now serves an additional function to help both mother and baby stay safer, using the latest technology to read what the placenta offers as a genetic map of what lies ahead. The prenatal tests already in existence are used to discover genetic disorders that may be inherited from the mother or those that exist within the bloodstream of the fetus. Similar testing methodology is now being employed to read genetic material in the mother’s bloodstream, circulated from the placenta, to predict pregnancy complications that often go undiagnosed until the later periods of gestation. When these late-term disorders are discovered early, the patient’s doctor and other medical professionals can more readily monitor their ongoing health status. It may also aid the healthcare team in potentially avoiding those second and third trimester complications altogether. In essence, the placenta provides additional clues for improved preparation and prevention.

Using non-invasive methods to learn how the placenta develops and works to support the pregnancy, the aforementioned study showed how prenatal testing methods could be used to track genetic material, particularly DNA discarded from the placenta and surrounding organs, to locate where the genetic material came from. The study traced it back to the placenta, a first of its kind. Reading the genetic patterns from these trace materials, researchers found that they led to markers for gestational diabetes and preeclampsia that may develop down the line. The signs were readily observable within the several months of pregnancy. This is significant because these conditions would not ordinarily be discovered early on in the gestational term, as current tests for diagnosis are limited to the later stages of pregnancy. The predictive value of genetic maternal discarded by the pancreas was also promising, as they provided signs of potential gestational diabetes. Ultimately, this groundbreaking study suggests that a simple test in the first three months of pregnancy may reveal genetic patterns indicating an expectant mother’s likelihood of developing later complications.

Why Late Stage Pregnancy Complications are so Dangerous

To put this in perspective, many complications arise in the last stage of pregnancy, such as:

Among others, the most common conditions are preeclampsia and gestational diabetes. Preeclampsia is high blood pressure that can damage other organs, such as the liver and kidneys. Swelling in the extremities is one of the signs of preeclampsia, which begins after week 20 of pregnancy. This condition is dangerous to the mother during and after delivery, as she may experience seizures or a stroke, potentially leading to irreversible brain damage. Preeclampsia often requires doctors to induce labor and delivery to protect the mother’s life and that of her child. However, prematurity is known to pose risks for the baby’s development, especially the lungs, which are the last to develop in the womb. As such, being delivered too early can leave the newborn with potentially dangerous respiratory disease, lung damage, and other debilitating illnesses. For instance, premature babies are prone to chronic illnesses like asthma and more likely to develop infections and feeding problems.

Likewise, uncontrolled blood sugar in the form of gestational diabetes often develops later in pregnancy. Healthcare staff typically initiative testing for this condition at between 24 and 28 weeks. Pregnant women with this condition often grow large babies that cannot be delivered vaginally, ultimately resulting in a C-section delivery, which comes with its own set of complications, such as hemorrhaging, infection, blood clots, and increased risks for future pregnancies. Gestational diabetes may also lead to possible lifelong Type 2 diabetes for the mother.

The Path Forward

Due to the current limitations of prenatal screening, damage to the mother and baby may have already begun by the time some pregnancy complications are diagnosed. Early prediction can help to prevent some, if not all, of the damage caused by untreated maternal conditions and lack of appropriate planning for the childbirth. According to researchers, the uncharted path toward early diagnosis using non-invasive testing methods may have just begun.


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