Q. Noninvasive prenatal genetic testing (NIPT) has ramped up in the last several years. Can you define it for us, and talk about its science, advantages, and disadvantages? Can you also tell us if it is commonly used in routine prenatal care, or whether it is more often reserved for certain cases depending on medical indications?
Dr. Kana: NIPT has emerged as a truly transformative technology in prenatal care. A simple maternal blood draw will contain circulating cell-free fetal DNA fragments (cffDNA), which can offer a valuable window into a fetus’s genetic makeup.2 Currently, NIPT is used primarily to screen for common chromosomal abnormalities such as Trisomy 21 (Down syndrome), Trisomy 18, Trisomy 13, and extra or missing copies of the X or Y chromosome.
NIPT’s use in routine prenatal care is steadily increasing but may vary depending on individual circumstances such as maternal age and family history.
While noninvasive prenatal genetic testing (NIPT) may boast high detection rates for these conditions and poses minimal risk to mother and fetus, it is crucial to acknowledge that this is fundamentally a screening tool, and its results are not a definitive diagnosis.
The American College of Obstetricians and Gynecologists (ACOG), in fact, emphasizes that NIPT carries a small chance of false positives or negatives, and says further diagnostic procedures may be necessary, depending on the results.3
The field of neonatal care is experiencing a sizable paradigm shift due to the application of novel genetic-related technologies.
Q. One of medicine’s most difficult diagnostic dilemmas is how best to assess newborns with complex medical disorders. Is genetic technology being applied to these situations, whether via whole genome sequencing or other types of genetic testing, and to what extent? Can application of these technologies make significant differences in care and outcomes for these newborns? And how does the genetic information about their child’s condition help parents understand and make informed decisions regarding their newborn’s health issues?
Dr. Kana: The field of neonatal care is experiencing a sizable paradigm shift due to the application of novel genetic-related technologies. For example, for newborns presenting with complex medical issues, whole genome sequencing (WGS), which can produce results for a clinical team in as little as 48 hours, offers a potentially powerful clinical tool, especially as results might reveal an underlying genetic cause of a child’s condition.
An article in a recent issue of Nature Medicine highlighted how WGS might expedite and improve diagnostic accuracy for a wide range of genetic disorders in neonates.4 This could lead to a more precise understanding of a child’s condition, which could significantly impact case management, especially for a critically ill patient in an intensive care setting. Furthermore, by pinpointing a possible genetic cause, WGS can empower parents with valuable information regarding the condition, its prognosis, and its potential management options. This knowledge can equip them to make informed decisions about their child's care and connect with relevant support groups.
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