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Related Experiment Videos

Trisomy 16 fetus surviving into the second trimester

W Cusick1, M Bork, B Fabri

  • 1Center for Human Reproduction, Division of Maternal-Fetal Medicine, Chicago, IL 60610, USA.

Prenatal Diagnosis
|November 1, 1995
PubMed
Summary

A rare case of trisomy 16 in a fetus was identified due to anhydramnios and multiple congenital anomalies. This genetic condition led to severe developmental issues and pregnancy termination.

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Area of Science:

  • Prenatal diagnosis
  • Fetal medicine
  • Genetics

Background:

  • Early detection of fetal anomalies is crucial for appropriate management.
  • Size/date discrepancies can indicate potential fetal growth issues or anomalies.

Observation:

  • A 27-year-old patient presented with anhydramnios at 14 weeks' gestation.
  • Ultrasound revealed significant fetal anomalies: congenital heart defect, chest hypoplasia, and bilateral dysplastic kidneys.

Findings:

  • Karyotype analysis confirmed trisomy 16 in all tested fetal cells.
  • The genetic abnormality was identified from a specimen of the fetal cord insertion site.

Implications:

  • Trisomy 16 is a severe chromosomal abnormality often incompatible with life.

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  • This case highlights the importance of comprehensive ultrasound and genetic testing in cases of anhydramnios and fetal anomalies.