Beryl Rice Benacerraf (April 29, 1949 – October 1, 2022) was an American radiologist and professor of obstetrics, gynecology and reproductive biology and radiology at Harvard Medical School. She was a pioneer in the use of prenatal ultrasound to diagnose fetal abnormalities, including Down syndrome. In 2021, she was recognized as a "Giant in Obstetrics and Gynecology" by the American Journal of Obstetrics & Gynecology.
Benacerraf pioneered the field of "genetic sonography"[3] with her discovery that nuchal fold thickness–the distance between the occipital bone and the surface of the overlying skin at back of the neck–was a reliable metric for second-trimester diagnosis of Down syndrome.[1][2][4][5] Benacerraf's advocacy of ultrasound as a less intrusive alternative to amniocentesis was initially criticized.[1] She recalled, "People thought I was this crazy lady in private practice who thought that measuring the neck was related to Down syndrome. So I was almost booed off the stage a couple of times."[2] However, a flurry of independent studies in the late '80s and '90s affirmed the diagnostic value of fetal ultrasound, and the nuchal translucency scan (pictured), the first-trimester analog of the nuchal fold thickness test, is now a standard component of prenatal aneuploidy screening.[6][7][8] Benacerraf also made major contributions to prenatal hearing testing[9][3] and fetal echocardiography.[10]
Benacerraf credited her talent in reading ultrasound as the "flip side" of her dyslexia.[1] In an interview with the Yale Center for Dyslexia & Creativity, she said:
During residency, I recognized that I had dyslexia. And then I realized I had this gift for imaging. Radiology is where I belonged. I live in a world of patterns and images and I see things that no one else sees. Anomalies jump out at me like a neon sign.[11]
Benacerraf wrote over 300 scholarly papers,[2] accruing over 13,000 citations.[12] From 2015 to 2017 she served as president of the American Institute of Ultrasound in Medicine[13] and was the editor-in-chief of its flagship Journal of Ultrasound in Medicine from 2000 to 2010.[14] She was also the author of the textbooks Ultrasound of Fetal Syndromes and Gynecologic Ultrasound: A Problem-Based Approach.[15][16][3] In 2021, she was recognized as a "Giant in Obstetrics and Gynecology" by the American Journal of Obstetrics & Gynecology (AJOG) for "[revolutionizing] the prenatal diagnosis of congenital
anomalies".[3]
Benacerraf was married in 1975 to Peter Libby, who became chief of cardiology at Brigham and Women's and Mallinckrodt Professor of Medicine at Harvard Medical School.[3][2] They had a son and a daughter.[1][2]
Benacerraf, Beryl R.; Gelman, Rebecca; Frigoletto, Fredric D. (1987). "Sonographic Identification of Second-Trimester Fetuses with Down's Syndrome". New England Journal of Medicine. 317 (22): 1371–1376. doi:10.1056/NEJM198711263172203. ISSN0028-4793. PMID2960895.
Benacerraf, Beryl R.; Mandell, James; Estroff, Judith A.; Harlow, Bernard L.; Frigoletto, Fredric D. (1990). "Fetal pyelectasis: A possible association with Down syndrome". Obstetrics and Gynecology. 76 (1): 58–60. ISSN0029-7844. PMID2141674.
Bromley, Bryann; Lieberman, Ellice; Shipp, Thomas D.; Benacerraf, Beryl R. (2002). "The genetic sonogram: A method of risk assessment for Down syndrome in the second trimester". Journal of Ultrasound in Medicine. 21 (10): 1087–1096. doi:10.7863/jum.2002.21.10.1087. ISSN0278-4297. PMID12369663. S2CID38564730.
^Benacerraf, Beryl R.; Barss, Vanessa A.; Laboda, Lane A. (1985). "A sonographic sign for the detection in the second trimester of the fetus with Down's syndrome". American Journal of Obstetrics and Gynecology. 151 (8): 1078–1079. doi:10.1016/0002-9378(85)90385-0. ISSN0002-9378. PMID3157321.
^Benacerraf, Beryl R.; Gelman, Rebecca; Frigoletto, Jr., Fredric D. (1987). "Sonographic Identification of Second-Trimester Fetuses with Down's Syndrome". New England Journal of Medicine. 317 (22): 1371–1376. doi:10.1056/NEJM198711263172203. ISSN0028-4793. PMID2960895.
^Souka AP, Von Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH (April 6, 2005). "Increased nuchal translucency with normal karyotype". American Journal of Obstetrics and Gynecology. 192 (4): 1005–1021. doi:10.1016/j.ajog.2004.12.093. PMID15846173.
^Bromley, Bryann; Estroff, Judy A; Sanders, Stephen P.; Parad, Richard; Roberts, Drucilla; Frigoletto, Jr., Fredric D.; Benacerraf, Beryl R (1992). "Fetal echocardiography: accuracy and limitations in a population at high and low risk for heart defects". American Journal of Obstetrics and Gynecology. 166 (5): 1473–1481. doi:10.1016/0002-9378(92)91622-H. ISSN0002-9378. PMID1595802.