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Trisomy 18 clustering in Kuwait.

K K Naguib1, S A Al-Awadi, M J Marafie

  • 1Kuwait Medical Genetics Centre, Maternity Hospital, Safat.

Clinical Genetics
|December 1, 1987
PubMed
Summary

Trisomy 18 (T18) incidence in 1986 was significantly higher than international rates. This study identified 13 T18 cases, with 8 in 1986, highlighting a concerning trend in live births.

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Area of Science:

  • Genetics
  • Medical Genetics
  • Reproductive Medicine

Background:

  • Trisomy 18 (T18), also known as Edwards syndrome, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 18.
  • The incidence of T18 varies globally, and monitoring local rates is crucial for understanding population-specific trends.
  • Previous studies have established baseline incidence rates for T18, providing a benchmark for comparison.

Purpose of the Study:

  • To determine the incidence of trisomy 18 in a specific maternity hospital population during 1984-1986.
  • To compare the observed incidence with international data and previous years' trends.
  • To analyze demographic and clinical characteristics of ascertained trisomy 18 cases.

Main Methods:

  • Clinical and cytogenetic ascertainment of trisomy 18 cases.
  • Calculation of incidence rates based on live births in 1986.
  • Analysis of sex ratio, parental ages, mode of delivery, and neonatal outcomes.
  • Karyotyping to confirm full trisomy 18 and detect chromosomal abnormalities like mosaicism or parental inversions.

Main Results:

  • Thirteen cases of trisomy 18 were identified between 1984 and 1986.
  • In 1986, 8 cases occurred among 17,318 live births, yielding an incidence of 4.61 per 10,000 births.
  • This incidence was significantly higher than international averages and prior years. The female-to-male sex ratio was 1.8:1, with median maternal and paternal ages of 32.5 and 40 years, respectively.
  • No history of polyhydramnios was noted. Five cases were delivered via cesarean section, and four neonates died.
  • All cases confirmed as full trisomy 18 without mosaicism; one case showed parental inversion 9.

Conclusions:

  • The observed trisomy 18 incidence in 1986 was notably elevated compared to established benchmarks.
  • The findings suggest a potential localized increase or improved detection rates for trisomy 18 during the study period.
  • Further investigation is warranted to explore potential contributing factors to the higher incidence and to monitor trends in subsequent years.

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