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Related Experiment Videos

Rapid karyotyping in fetuses with abnormal sonogram.

F J Hsieh1, H C Hsu, T M Ko

  • 1Department of Obstetrics & Gynecology, National Taiwan University Hospital, Taipei, Republic of China.

Acta Obstetricia Et Gynecologica Scandinavica
|January 1, 1988
PubMed
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Rapid prenatal karyotyping on fetal blood from abnormal ultrasounds detected chromosomal abnormalities in 29.7% of cases. This fast genetic testing aids in crucial obstetric and neonatal management decisions.

Area of Science:

  • Medical Genetics
  • Prenatal Diagnosis
  • Fetal Medicine

Background:

  • Abnormal fetal sonograms often necessitate further investigation to rule out chromosomal abnormalities.
  • Timely genetic information is crucial for informed obstetric and neonatal management decisions.

Purpose of the Study:

  • To evaluate the efficacy of rapid prenatal karyotyping in fetuses with abnormal ultrasound findings.
  • To assess the diagnostic yield of chromosomal abnormalities using percutaneous umbilical cord blood sampling.

Main Methods:

  • Prenatal karyotyping was performed on fetal blood samples from 27 pregnancies with abnormal sonograms.
  • Fetal blood was obtained via percutaneous umbilical cord blood sampling under ultrasound guidance.
  • Karyotyping results were available within 72 hours.

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Main Results:

  • Eight chromosomal abnormalities (29.7%) were detected, including Turner syndrome, trisomy 21, trisomy 18, and Klinefelter syndrome.
  • Nineteen fetuses (70.3%) had normal karyotypes (46,XX or 46,XY).
  • Rapid turnaround time facilitated prompt management planning.

Conclusions:

  • Rapid karyotyping of fetal blood in fetuses with abnormal sonograms is highly effective.
  • This diagnostic approach significantly impacts obstetric and neonatal management.
  • It also serves as a valuable tool for genetic counseling.