EP07.20: Early detection and characterisation of CNS anomalies at 11–14 weeks in a mixed population attending a tertiary centre in a metropolitan city in India

Abstract

To diagnose and characterise fetal CNS anomalies at 11-14 weeks of gestation to facilitate early management decisions. This was a retrospective analysis of 2377 pregnancies from a mixed economic and cultural background who underwent an 11-14 week-scan at a centre that provides primary, secondary and tertiary imaging care in Mumbai (India) between 2017 and 2018. Crown–rump length was 45 to 84 mm. The age range was 18-46 years (median 27 years). All scans followed ISUOG guidelines. The prevalence of CNS anomalies was about 1.09%. Of a total of 26 anomalous fetuses, 12 had an acrania-exencephaly sequence, 6 open spina bifida, 3 encephaloceles, 2 holoprosencephalies, 1 closed NTD and 2 suspected posterior fossa anomalies. 3 patients were lost to follow up. One encephalocele had associated Iniencephaly. Another had a double outlet right ventricle at 16 weeks follow up. Acrania-exencephaly was easily identified because of gross anatomical distortion. All open spina bifidas were suspected by nonvisualisation of the intracranial translucency. Complete or partial non-visualisation of the falx led to the diagnosis of holoprosencephaly. The overall prevalence of NTDs in India is high (0.05-1.1%) compared to other regions of the world, consequent to multiple factors possibly including lack of periconceptional folate supplementation, poor patient compliance, genetic predisposition and suboptimal ultrasound evaluation. These defects frequently give rise to quality of life issues. High end technology and operator skill enable early diagnosis. This potentially facilitates patient counseling and family decision making at a stage in pregnancy when termination, if opted for, is safer and psychologically simpler. EP07.20: Table 1. Various CNS anomalies found in our study Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.