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Case Records of the Massachusetts General Hospital
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Volume 352:1579-1587 April 14, 2005 Number 15
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Case 11-2005 — A 32-Year-Old Pregnant Woman with an Abnormal Fetal Karyotype
Lewis B. Holmes, M.D., Antonio R. Gargiulo, M.D., Allan S. Nadel, M.D., and Catherine Racowsky, Ph.D.

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Presentation of Case

A 32-year-old woman in the 17th week of her first pregnancy was referred for genetic counseling after her fetus had been found to have an abnormal karyotype. She had had an uneventful first trimester. In the 14th week, transabdominal and transvaginal ultrasonography, performed to evaluate an ovarian cyst, revealed a single intrauterine gestational sac containing a normal fetus with a normal heart rate. The area of nuchal translucency was 3.7 mm in diameter (normal, ≤2.5 mm) (Figure 1 shows an ultrasound study of a similar fetus). There were two cysts within the left ovary; a clear cyst, 4.1 cm . . . [Full Text of this Article]

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Source Information

From the Genetics and Teratology Unit, Mass General Hospital for Children (L.B.H.), and the Department of Obstetrics and Gynecology (A.S.N.), Massachusetts General Hospital; the Departments of Pediatrics (L.B.H.) and Obstetrics, Gynecology, and Reproductive Biology (A.R.G., A.S.N., C.R.), Harvard Medical School; and the Center for Reproductive Medicine, Brigham and Women's Hospital (A.R.G., C.R.).




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