Fetal structural anomalies diagnosed during the first, second and third trimesters of pregnancy using ultrasonography: a retrospective cohort study

Abstract

BACKGROUND: The prevalence of congenital abnormalities in general populations is approximately 3-5%. One of the most important applications of obstetric ultrasound is in detection of fetal structural defects. OBJECTIVE: To assess fetal structural anomalies diagnosed using ultrasound in the three trimesters of pregnancy. DESIGN AND SETTING: Retrospective cohort study at the Mário Palmério University Hospital of the University of Uberaba (Universidade de Uberaba, UNIUBE), from March 2014 to December 2016. METHODS: Ultrasound data at gestational weeks 11-13 + 6, 20-24 and 32-36 were recorded to identify fetal anomalies in each trimester and in the postnatal period. The primary outcome measurements were sensitivity, specificity, positive predictive value and negative predictive value for detection of fetal anomalies and their prevalence. RESULTS: The prevalence of anomalies detected using ultrasound was 2.95% in the prenatal period and 7.24% in the postnatal period. The fetal anomalies most frequently diagnosed using ultrasound in the three trimesters were genitourinary tract anomalies, with a prevalence of 27.8%. Cardiac anomalies were diagnosed more often in the postnatal period, accounting for 51.0% of all cases. High specificity, negative predictive value and accuracy of ultrasound were observed in all three trimesters of pregnancy. CONCLUSION: Ultrasound is safe and has utility for detecting fetal anomalies that are associated with high rates of morbidity and mortality. However, the low sensitivity of ultrasound for detecting fetal anomalies in unselected populations limits its utility for providing reassurance to examiners and to pregnant women with normal results.

Antenatal counselling of congenital surgical anomalies: A decade of experience in a local tertiary centre

“…in Brazil and Sallout et al . in Saudi Arabia reported that genitourinary defects were the most frequently diagnosed anomalies during the prenatal period and at birth with detection rate of 76.7% 10,12 . In our present study, urogenital anomalies (including hydronephrosis, duplex kidney, multicystic dysplastic kidney and so on) and thoracic anomalies (including congenital diaphragmatic hernia and congenital pulmonary airway malformations) were the most frequently referred anomalies during the prenatal period comprising 31 and 30% of all antenatal consultations, respectively.…”

“…The referral rate of surgical anomalies via our multidisciplinary perinatal surgical consultation scheme was 0.6%. This was lower than the expected prevalence of 1.9–3% as in other international literature; however, our study did not include records of stillbirth nor post‐mortem anomalies which would not be referred to our service via this scheme; therefore, it could not reflect the actual incidence in our population 1,2,10 . Some of the mild and less complex congenital anomalies such as mild antenatal hydronephrosis were not referred to this scheme for surgical counselling, which were counselled by obstetricians only after detection.…”

“…This was lower than the expected prevalence of 1.9-3% as in other international literature; however, our study did not include records of stillbirth nor post-mortem anomalies which would not be referred to our service via this scheme; therefore, it could not reflect the actual incidence in our population. 1,2,10 Some of the mild and less complex congenital anomalies such as mild antenatal hydronephrosis were not referred to this scheme for surgical counselling, which were counselled by obstetricians only after detection. Furthermore, the contributions of antenatal service by private sectors as well as the presence of non-booked delivery may account for the lower detection and referral rate of our scheme.…”

Worm Sign: A possible first‐trimester sonographic marker for intracranial haemorrhage resulting in significant cortical disruption

“…Owing to technological advances, the utility of first-trimester ultrasound between 11 and 14 weeks can be used beyond confirming viability, gestational age, chorionicity, amnionicity, and measuring the fetal nuchal translucency thickness to include fetal anatomic visualisation. 3 This case illustrated the importance of early anatomic surveillance and implies that during the first-trimester ultrasound, evaluation should include identification of two equal cerebral hemispheres, presence of choroid plexus, and appropriate posterior fossa size. Rossi et al support this assertion, describing that first-trimester ultrasound can identify approximately half (51%) of all significant fetal brain and spine anomalies.…”

Evaluation of Prenatal Central Nervous System Anomalies: Obstetric Management, Fetal Outcomes and Chromosome Abnormalities

“…8) de ned congenital malformation as "any morphological abnormality that dates to the embryonic or fetal period, regardless of the mechanism of its origin ". As radiological technology advances, fetal ultrasonography is an appropriate diagnostic standard for prenatal CNS anomalies and they can be visualized starting from the rst trimester, even as early as 6 weeks onwards (7,17,(27)(28)(29). The detection of CNS anomaly on ultrasound requires a systemic approach to direct into the nal diagnosis, evaluate the prognosis of the condition and outline the management plan accordingly.…”