The centralized prenatal genetics screening program of New York City III: The first 7,000 cases

Authors

  • Peter A. Benn Ph.D,

    Corresponding author
    1. Prenatal Diagnosis Laboratory of New York City (a service division of Medical and Health Research Association of New York City, Inc.)
    2. Department of Pathology, New York University School of Medicine
    Current affiliation:
    1. Actagen, Inc., 4 Westchester Plaza, Elmsford, NY 10523
    • c/o Dr. Lillian Y.F. Hsu, Prenatal Diagnosis Laboratory of New York City, 455 First Avenue, New York, NY 10016
    Search for more papers by this author
  • Lillian Y. F. Hsu,

    1. Prenatal Diagnosis Laboratory of New York City (a service division of Medical and Health Research Association of New York City, Inc.)
    2. Department of Pediatrics, New York University School of Medicine
    Search for more papers by this author
  • Ann Carlson,

    1. Prenatal Diagnosis Laboratory of New York City (a service division of Medical and Health Research Association of New York City, Inc.)
    Search for more papers by this author
  • Hody L. Tannenbaum,

    1. Prenatal Diagnosis Laboratory of New York City (a service division of Medical and Health Research Association of New York City, Inc.)
    Search for more papers by this author
  • John M. Opitz,

    EditorSearch for more papers by this author
  • James F. Reynolds

    EditorSearch for more papers by this author

Abstract

The Prenatal Diagnosis Laboratory of New York City (PDL) is a regional program for the prevention of genetic diseases. The administrative aspects of the establishment of the laboratory were described in papers I [Hsu, 1981] and II [Hsu and Benn, 1981] in this series. We now report our experience of the first 7,000 referrals to the laboratory.

The laboratory achieved a success rate of 99.5% in obtaining a diagnosis. The frequency with which a repeat amniocentesis was required was 1.9%, usually attributable to inadequate initial amniotic fluid volume or condition. Cases were completed in an average time of 20.82 days.

A total of 149 (2.13%) cytogenetic abnormalities were detected. There were 59 nonmosaic autosomal trisomies and 29 sex chromosome abnormalities. The incidence of unbalanced structural abnormalities (0.186%) was much higher than that reported in surveys of newborn infants largely because of the prenatal detection of cases with supernumerary chromosomes. The incidence of balanced structural abnormalities was also considerably higher than that found in surveys of the newborn population, in part because of the detection of subtle familial pericentric inversions of common chromosome regions (inv Y)(p11q11), inv(2)(p11q13), and inv(1)(p11q13). The incidence of cases with multiple independent chromosome abnormalities was no higher than expected by chance. A high incidence of mosaicism, pseudomosaicism, and maternal cell contamination was found. Screening for neural tube defects accounted for the detection of a further 16 abnormalities.

Nearly all women with severely abnormal fetuses (trisomy 13, 18, 21) elected to terminate their pregnancy whereas only 62% of patients with a prenatally.

Ancillary