The centralized prenatal genetics screening program of New York City III: The first 7,000 cases
Article first published online: 7 JUN 2005
Copyright © 1985 Wiley-Liss, Inc., A Wiley Company
American Journal of Medical Genetics
Volume 20, Issue 2, pages 369–384, February 1985
How to Cite
Benn, P. A., Hsu, L. Y. F., Carlson, A., Tannenbaum, H. L., Opitz, J. M. and Reynolds, J. F. (1985), The centralized prenatal genetics screening program of New York City III: The first 7,000 cases. Am. J. Med. Genet., 20: 369–384. doi: 10.1002/ajmg.1320200221
- Issue published online: 7 JUN 2005
- Article first published online: 7 JUN 2005
- Manuscript Revised: 30 JUL 1984
- Manuscript Received: 29 MAY 1984
- New York State Department of Health. Grant Number: C-113258
- New York City Department of Health
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.