Identification of Edward’s Syndrome and the Importance of Maternal SerumScreening Tests

Abstract

Introduction: Edwards’s syndrome is a chromosomal disorder caused due to the presence of an extra chromosome 18. This syndrome was first reported in 1960 by Edward. The prevalence of this disease is approxi­mately 1:6000 live births, and its prevalence increases with maternal age. Most of these fetuses die in the tenth week of pregnancy in the uterus. Case report: In this study, we presented the case of an infant with Edward’s syndrome, which was diagnosed in utero. Ultrasound screening and maternal serum screening were not performed at 12 weeks. Choroid plexus cyst,atrioventricular septal defect (AVSD), and echogenicity with a diameter of 5 mm in the anterior abdominal wall were observed on ultrasound at 19 weeks. After the karyotype of amniotic fluid, Edward’s syndrome was reported. According to gestational age (23 weeks) therapeutic abortion was not possible. After birth, the baby had multiple abnormalities including small oral opening, micrognathia, arch-shaped mouth, nasal bridge with an upward the tip, wide anterior fontanel, strabismus of the left eye, umbilical hernia, developmental disorders, weak cry, short neck, and closed fingers. He died at 5 months of age. Conclusion: Chromosomal abnormalities such as Down’s, Edward’s and Patau’s syndromes are easily detectable during pregnancy and are considered for therapeutic abortion. Therefore, early diagnosis is important during pregnancy.

Keywords

• Edward’s syndrome
• Karyotype
• Chromosomal disorder
• Abortion