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Karyotyping01:17

Karyotyping

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FISH for Pre-implantation Genetic Diagnosis
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Prenatal karyotype results from 2169 invasive tests.

Hanna Moczulska1, Marta Chrzanowska-Steglinska2, Beata Skoczylas3

  • 1Department of Clinical Genetics, Medical University of Lodz, Poland. hanna.moczulska@umed.lodz.pl.

Ginekologia Polska
|March 28, 2023
PubMed
Summary

Foetal karyotyping remains crucial for prenatal diagnosis, detecting rare chromosomal abnormalities missed by newer molecular tests. This study confirms its continued importance in identifying genetic syndromes in high-risk pregnancies.

Keywords:
amniocentesisgenetic testingkaryotype

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Area of Science:

  • Genetics
  • Prenatal Diagnostics
  • Medical Science

Background:

  • Foetal karyotyping is a standard diagnostic tool for common genetic syndromes.
  • Emerging molecular methods like FISH, MLPA, and QF-PCR offer rapid prenatal testing but have limitations for rare chromosomal abnormalities.
  • Chromosomal microarray analysis provides higher resolution and is recommended as a first-line genetic test in prenatal diagnosis.

Purpose of the Study:

  • To evaluate the ongoing validity and performance of foetal karyotyping in prenatal diagnosis.
  • To assess its effectiveness in a large cohort of pregnant women with elevated risk for chromosomal aberrations.

Main Methods:

  • Analysis of 2169 foetal karyotypes from two university prenatal diagnostic centers in Lodz, Poland.
  • Karyotyping was performed following positive screening results or detected fetal abnormalities via ultrasound.

Main Results:

  • A total of 205 (9.4%) abnormal foetal karyotypes were identified.
  • Rare chromosomal aberrations, including translocations, inversions, deletions, and duplications, were found in 34 cases.
  • A marker chromosome was detected in five cases.

Conclusions:

  • Approximately one-third of detected chromosomal abnormalities were rare types, not the common trisomies 21, 18, or 13.
  • Many of these rarer aberrations are undetectable by current rapid molecular methods.
  • Foetal karyotyping remains an indispensable component of comprehensive prenatal diagnosis.