Researchers identify growing list of genetic disorders treatable before or immediately after birth
- Researchers identified 296 genetic disorders treatable before or soon after birth.
- Genomic sequencing has become crucial for prenatal diagnoses in the last decade.
- The research team aimed to improve care through a list of treatable conditions.
- Nina Gold stated, "We saw a critical gap...to define the genetic disorders that are treatable."
- Early detection and intervention can improve outcomes but pose ethical challenges.
12 Articles
12 Articles
Researchers ID genetic disorders that can be treated before birth — Harvard Gazette
Health Researchers ID genetic disorders that can be treated before birth Timely detection could reduce morbidity, offers opportunities for early intervention Mass General Brigham Communications April 9, 2025 3 min read A new study identifies nearly 300 genetic disorders that can be treated during pregnancy or in the first week of life, forming the basis for a “treatable fetal findings list” that could be…


Researchers identify growing list of genetic disorders treatable before or immediately after birth
Researchers from Mass General Brigham, Harvard Medical School and Duke University School of Medicine have identified nearly 300 genetic disorders that can be treated before or immediately after a baby is born. This "treatable fetal findings list" could improve the diagnosis of genetic conditions in pregnancy and enhance the treatment options available for fetuses who have these conditions.
Beyond Newborn Screening: Four Essential Factors in Congenital Disease Care
These recommendations on how to care for babies who fail newborn screenings offer valuable lessons for public health officials, clinicians, and families. The post Beyond Newborn Screening: Four Essential Factors in Congenital Disease Care appeared first on MedCity News.
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