Utility of the sonographic syndromic pattern approach in diagnosis of aneuploidy in a low resource setting: case report

Abstract

Background: Aneuploidies pose a diagnostic challenge in low resource settings where diagnostic tests are unavailable or costs are beyond the reach of many. This provides a clinical challenge in case management and counselling for women with foetuses carrying multiple congenital anomalies. A pragmatic approach in the management of foetal medicine cases in these settings becomes imperative.

Design: Screening survey and diagnostic test, the well accepted standard for Aneuploidy screen and laboratory tests. In this case we seek to illustrate the use of ultrasound in low resource setting where diagnostic tests are expensive and inaccessible.

Setting: This was a hospital-bases case in a low-income setting.

Subjects: A 45-year-old woman in her first pregnancy was referred at 20 weeks gestation to the Fetal Medicine Unit (FMU) with an ultrasound scan diagnosis of exomphalos.

Intervention: A syndromic pattern approach was used in making a clinical diagnosis of trisomy 18 in a setting with ultrasound equipment and well-trained personnel. The syndromic pattern approach recognises that the common aneuploids such as Trisomy 21, 18 and 13, Monosomy X and Triploidy have a set of foetal malformations that accompany each of the syndromes.

Main Outcome Measures: Diagnosis of Aneuploidy

Results: A large exomphalos containing bowel and liver was identified. Additional abnormalities were identified which included bilateral mild ventriculomegaly, choroid plexus cysts, left diaphragmatic hernia, atrioventricular septal defect, and kyphoscoliosis of the thoracolumbar vertebrae.

Conclusion: The case illustrates the utility of the sonographic syndrome approach in managing pregnancy with multiple foetal defects in low-resource settings.

Core Tip: Aneuploidies pose a diagnostic challenge in low resource settings where diagnostic tests are unavailable or costs are beyond the reach of many. We report a case in which a sonographic syndromic pattern approach was used in making a clinical diagnosis of trisomy 18 in a setting with ultrasound equipment and well-trained personnel. This approach helps with case management and patient counselling.