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Results and Pitfalls in Prenatal Cytogenetic Diagnosis
  1. Lillian Y. F. Hsu,
  2. Elyse C. Dubin,
  3. Thomas Kerenyi,
  4. Kurt Hirschhorn
  1. Department of Pediatrics, Division of Medical Genetics, Mount Sinai School of Medicine of the City University of New York
  2. The Department of Obstetrics and Gynecology, Mount Sinai School of Medicine of the City University of New York

    Abstract

    Since 1969, we have cultured over 200 diagnostic amniotic fluids. Of these, 183 were for cytogenetic diagnosis. The chromosome analysis was successful in 168 cases. The indications and the results of the affected fetuses (followed by therapeutic abortion) are: (1) previous child with Down's syndrome: 62 cases (1:47,XX,+21); (2) advanced maternal age: 54 cases (1:47,XXY; 1:45,X/46,XY mosaicism; 1:47,+18); (3) previous child with multiple anomalies: 12 cases; (4) previous child with 47,XY,+18 or 47,+13: five cases; (5) translocation carrier: two cases; (6) parental mosaicism: three cases; (7) X-linked disorders: six cases (3:XY); (8) others: 24 cases. We have found firstly, that for prenatal sex determination, karyotype analysis of the cultured amniotic fluid cells is the only accurate means and that caution must be taken if sex chromatin and Y-fluorescent body determination from the uncultured amniotic fluid cells is used. Secondly, that diagnosis of chromosomal mosaicism can be problematic as exemplified by our case of 45,X/46,XY mosaicism, where only 45,X cells were recovered from the first culture. Thirdly, that in cases with enlarged satellites, cells of late prophase or early metaphase must be used to eliminate confusion with translocations. We encountered three cases of enlarged satellites—one in the D group and two in the G group—and all three resulted in normal infants. Fourthly, that the karyotype may be altered by contamination and/or treatment or other unknown factors. We have observed two such cases where each mother delivered a normal infant.

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    Footnotes

    • * This work was supported in part by US Public Health Service Grant HD-02552 and Clinical Genetics Center Grant GM-19443.

      K.H. is a Career Scientist of the Health Research Council of the City of New York (I-513).

      Presented in part at the Annual Meeting of the American Society of Human Genetics, Philadelphia, Pennsylvania in October 1972.

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