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Related Experiment Videos

Trisomy 13 in the fetus.

M Fujinaga1, T H Shepard, J Fitzsimmons

  • 1Department of Pediatrics, School of Medicine, University of Washington, Seattle 98195.

Teratology
|February 1, 1990
PubMed
Summary

Autopsies of ten fetuses with trisomy 13 revealed significant kidney abnormalities, including increased weight and abnormal histology. These findings offer crucial insights into fetal development in trisomy 13 cases.

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Fetal Pathology

Background:

  • Trisomy 13 (Patau syndrome) often results in fetal loss, with limited systematic autopsy data available.
  • Understanding fetal anomalies in trisomy 13 is critical for genetic counseling and prenatal diagnosis.

Purpose of the Study:

  • To systematically examine the anatomical and histological features of trisomy 13 fetuses.
  • To characterize the spectrum of malformations, with a focus on renal development.

Main Methods:

  • Autopsy of ten fetuses diagnosed with trisomy 13 (via karyotype or ultrasound).
  • Crown-rump length and gestational age measurements.
  • Gross examination of organs and histological analysis of kidneys.

Main Results:

  • Consistent with neonatal trisomy 13, observed malformations included holoprosencephaly, cyclopia, and polydactyly.
  • Eight of nine fetuses showed significantly increased kidney weights.
  • Kidney histology revealed increased mitotic activity and a blastemic appearance in the cortex.

Conclusions:

  • Fetal autopsies confirm that major trisomy 13 malformations are present early in development.
  • Significant renal abnormalities, including hyperplasia and abnormal histology, are a consistent feature of trisomy 13 fetuses.

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