Volume 18

Number 1 January 2012

A Case of Trisomy 18: Twenty Five Weeks of Pregnancy With Multiple Congenital Anomalies

DOI:

Rahman F1 , Akhter N2 , Hossain S3 , Hossain Md. S4

Abstract

Congenital anomalies are characterized by structural deformities due to defects in or damage to a developing fetus. A congenital disorder may be the result of genetic abnormalities, the intrauterine environment, errors of morphogenesis, infection, or a chromosomal abnormality. Fetal chromosomal abnormalities usually present with a variety of structural abnormalities detectable in prenatal ultrasonography. A greater number of malformations is associated with a greater risk of chromosomal abnormalities and increased occurrence of ultrasonographic soft markers1.2. A common type of chromosomal abnormality is called a 'trisomy'. Most common trisomics are trisomy 2I(Down's syndrome), trisomy 18 (Edward's syndrome) and trisomy 13 (Patau's syndrome). Most fetuses with major chromosomal abnormalities have either external or internal defects that can be recognized by detailed ultrasonographic examination. These are defined as ultrasound markers for fetal chromosomal defects. In case of trisomy 13, 18. Turner's syndrome and triploidy, ultrasound markers are often major fetal abnormalities. In contrast, in Down's syndrome fetuses the structural defects are subtle and often isolated". Based on the detection of growth restriction or fetal anomaly, antenatal suspicion of ancuploidy was present in 73% of fetuses with trisomy 21, in 85% of fetuses with trisomy 18 and 100% of fetuses with trisomy 131. Here a case of 26 weeks pregnancy with multiple congenital anomalies is presented, the syndromal pattern of ultrasound findings are consistent with fetal abnormalities detectable in trisomy 18.

Keywords:


  1. Senior Medical Officer, Center for Nuclear Medicine and Ultrasound, Bangladesh Atomic Energy Commission

    Dhaka Medical College Hospital. Dhaka

  2. Senior Medical Officer, Center for Nuclear Medicine and Ultrasound, Bangladesh Atomic Energy Commission

    Dhaka Medical College Hospital. Dhaka

  3. Medical Officer, Cemer for Nuclear Medicine and Ultrasound, Bangladesh Atomic Energy Commission

    Dhaka Medical College Hospital. Dhaka

  4. Dirctor, Center for Nuclear Medicine and Ultrasound, Bangladesh Atomic Energy Commission

    Dhaka Medical College Hospital. Dhaka

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Volume 18, Number 1 January 2012
Page: 53-57