American journal of perinatology
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Nearly two decades ago, the discovery of circulating cell-free fetal DNA in maternal blood created a paradigm shift in prenatal testing. Recent advances in DNA sequencing technology have facilitated the rapid translation of DNA-based testing into clinical antenatal care. ⋯ The use of cell-free DNA in maternal blood for the detection of fetal rhesus D antigen status, fetal sex, and common whole chromosomal aneuploidies is now well established, although testing for aneuploidy is still considered screening and not diagnostic. Further advances in technology and bioinformatics may see future clinical applications extend to the noninvasive detection of fetal subchromosomal aneuploidy, single gene disorders, and the entire fetal genome.
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The Fetal Treatment Center founded by Michael Harrison is credited as the birthplace of fetal surgery. His trainees in pediatric surgery subsequently founded fetal centers throughout the United States. In Europe, the advent of minimally invasive fetal surgical techniques led to the establishment of treatment centers led predominantly by perinatologists. ⋯ Although not subjected to the rigors of clinical trials, this treatment has withstood the test of time. Interventions for other fetal disease states such as twin-twin transfusion and repair of fetal myelomeningocele were investigated in animal models followed by randomized clinical trials before widespread adoption. Tracheal occlusion for diaphragmatic hernia is still currently being investigated as the next promising step in fetal intervention.