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Related Experiment Videos

Fetal phenotypic analysis.

B Rafael Elejalde1,2,3,4, Maria Mercedes de Elejalde1,3

  • 1Genetics Section, Department of Obstetrics and Gynecology, University of Wisconsin Medical School, Milwaukee.

Indian Journal of Pediatrics
|April 10, 2017
PubMed
Summary
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Ultrasonography combined with genetic testing enhances prenatal diagnosis of fetal abnormalities. This approach aids in identifying congenital and inherited diseases, improving the assessment of fetal health.

Area of Science:

  • Medical Genetics
  • Prenatal Diagnosis
  • Medical Imaging

Background:

  • Phenotypic analysis has evolved with technological advancements, moving from basic characteristic recognition to sophisticated genotype and phenotype studies.
  • Ultrasonography emerged as a key tool in disease analysis by the mid-1970s, significantly advancing the study of the human fetal phenotype in utero.
  • Current genetic prenatal diagnosis primarily relies on ultrasonography coupled with cytogenetic and biochemical analysis of amniotic fluid.

Purpose of the Study:

  • To describe and advocate for the systematic integration of ultrasonography with biochemical and cytogenetic tests.
  • To examine pregnancies at high risk for congenital and inherited diseases or those exhibiting signs of abnormality.
  • To enhance the diagnostic capabilities for fetal conditions.
Keywords:
Ultrasonographyfetal congenital malformationsfetal diagnosisprenatal diagnosis

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Main Methods:

  • Systematic application of ultrasonography in prenatal examinations.
  • Integration of biochemical and cytogenetic analyses of amniotic fluid.
  • Examination of 1500 fetuses for congenital and inherited diseases.

Main Results:

  • Detection of various single-system conditions, including skeletal dysplasias (e.g., osteogenesis imperfecta, thanatophoric dysplasia) and neural tube defects.
  • Identification of conditions like gastroschisis and multiple congenital malformation syndromes (e.g., VATER, Meckel syndrome).
  • Successful analysis of fetal functionality through advanced ultrasonography techniques.

Conclusions:

  • Ultrasonography, when used systematically with genetic testing, is a powerful tool for prenatal diagnosis.
  • This integrated approach allows for the early detection of a wide spectrum of fetal abnormalities.
  • The functional analysis of the fetus represents a significant advancement in prenatal genetic diagnosis.