[Prenatal diagnosis. II. Importance of ultrasonographic markers in prenatal diagnosis of chromosome abnormalities]

Invest Clin. 1998 Dec;39(4):257-72.
[Article in Spanish]

Abstract

The Medical Genetic Unit of the University of Zulia (MGUUZ) has developed a Prenatal Diagnosis Program (PDP) since January-1993, in which Genetic Risk Factors are determined in couples who request prenatal genetic counseling. In this program, different prenatal diagnostic procedures are performed to detect congenital defects during intrauterine life. One of these procedures is the Fetal Sonogram (FS). FS is a non invasive technique which permits the prenatal diagnosis of many genetic dysmorphic syndromes. Through the search of abnormal specific characteristics in the fetus, chromosomopathies may be suspected. These findings are named "Echosonographic Markers of Chromosomal Abnormalities" (EMCA). During three years (January-1993 to December-1996), patients attended in the PDP included 321 pregnant women in which 312 FS were performed. Abnormal outcomes were 22 (17 with isolated congenital malformations and 5 with EMCA). Only one fetus with chromosome abnormality (46,XX21q-) could not be detected by FS. The goals of this paper are: 1) to report 5 patients with sonographic markers suggestive of chromosomal abnormalities and 2) to show the FS usefulness in prenatal diagnosis of chromosompathies. We conclude that, in the search of the EMCA the FS should be offered systematically to all pregnant women without recognizable genetic risk. They are the main group with optimal reproductive age and in consequence, with the possibility of having a relatively major number of conception outcomes with congenital defects, with or without chromosomic etiology. The majority of those defects can be detected by FS and could allow us to select the patients in which the use of an invasive prenatal diagnostic procedure could be justified.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Chromosome Aberrations / diagnostic imaging*
  • Chromosome Disorders
  • Down Syndrome / diagnostic imaging
  • Eye Abnormalities / diagnostic imaging
  • Female
  • Fetal Death / diagnostic imaging
  • Holoprosencephaly / diagnostic imaging
  • Humans
  • Infant, Newborn
  • Lymphangioma, Cystic / diagnostic imaging
  • Male
  • Polydactyly / diagnostic imaging
  • Pregnancy
  • Turner Syndrome / diagnostic imaging
  • Ultrasonography, Prenatal*