Autopsy Findings of Central Nervous System Anomalies in Intact Fetuses Following Termination of Pregnancy After Prenatal Ultrasound Diagnosis.

OBJECTIVES: Central nervous system (CNS) anomalies are the second most frequent category of congenital anomalies after congenital heart defects (CHDs). In this study, the aim was to investigate the distribution of different CNS anomalies with associated anomalies and karyotype in a fetal autopsy population of terminated pregnancies over a 30-year period and to correlate the ultrasonographic diagnoses of CNS anomalies with autopsy findings. MATERIALS AND METHODS: This study includes 420 intact fetuses with CNS anomalies terminated at gestational ages 11+ 0 to 33+ 6 over a 30-year period from 1985 to 2014. An ultrasound (US) examination was performed at the National Centre for Fetal Medicine, St. Olavs Hospital, Trondheim. The autopsies were performed at the Department of Pathology at the same hospital or a collaborating hospital. The anomalies were subcategorized according to the classification by the World Health Organization. RESULTS: Neural tube defects such as anencephaly (22.4%, 107/477) and spina bifida (22.2%, 106/477) constituted the most common CNS anomalies, followed by congenital hydrocephalus (17.8%, 85/477). In total, the karyotype was abnormal in 21.0% of all termination of pregnancies (TOPs), with trisomy 18 as the most frequent abnormal karyotype. CHDs, skeletal anomalies, and urinary anomalies were the most common associated organ anomalies. Throughout the study period, there was full agreement between US and postmortem findings of CNS anomalies in 96.9% (407/420) of TOPs. CONCLUSION: In this study of autopsy findings of CNS anomalies in intact fetuses terminated after prenatal US diagnosis, neural tube defects were most common. About half of the fetuses had isolated serious CNS anomalies, while the other half were CNS anomalies associated with structural and/or chromosomal anomalies. The prenatal US diagnoses were in good concordance with autopsy findings. In particular, due to challenges of diagnoses made early in pregnancy, it is necessary to continue the validation practice.

Variability Over Time of Normal-Sized Fetal Renal Pelvis During the Second Trimester Scan.

PURPOSE: To investigate the variability of the normal-sized fetal renal pelvis (≤5 mm) over time and to analyze repeatability of measurements. MATERIALS AND METHODS: 98 fetal renal pelvises and 49 fetal urinary bladders were analyzed at a gestational age of 17-20 weeks at St. Olavs Hospital, Trondheim, Norway. The anterior-posterior diameter (APD) of the fetal renal pelvis and two diameters of the fetal bladder were measured with an interval of at least 30 min. Intra- and interobserver variations and variations over time and in association with bladder size were investigated. RESULTS: The mean difference in renal pelvis size between the first and second measurements was 0.09 mm (95% CI, -0.09 to 0.26 mm). The variation over time was ≤1 mm in 85% of cases and the renal pelvis was ≤4 mm in both the first and second examinations in 92% of cases. The intraclass correlation coefficient (ICC) was 0.54 (95% CI: 0.31 to 0.69). We did not observe any association between variation of bladder size and variation of APD. The difference in fetal renal pelvis size was ≤1 mm in 70% of observations for the first examiner and 58% for the second examiner. The intraobserver ICCs were 0.71 (95% CI: 0.62-0.78) and 0.60 (95% CI: 0.50-0.70) for the two observers respectively. The interobserver difference was ≤1 mm in 72% of cases and the interobserver ICC was 0.56 (95% CI: 0.34-0.71). CONCLUSION: The variation of the APD of the fetal renal pelvis over time was small in fetuses with the APD in the lower range and can mainly be explained by intraobserver variation.

Detection of structural abnormalities in the first trimester using ultrasound.

During the past 25 years, embryonic and early fetal ultrasound and diagnosis have increasingly gained attention in pregnancy care. Modern high-frequency ultrasound transducers make it possible to obtain detailed images of the early conceptus and its organs, and thus move part of the anatomy and anomaly scan from the second to the first trimester. Today, detection of embryonic and fetal structural abnormalities in the first trimester has frequently been reported. One has to distinguish between diagnosis during the early period until about 10 weeks when the embryo or early fetus is small and transvaginal ultrasound is applied, and diagnosis during the late period at the nuchal translucency screening, usually carried out using transabdominal ultrasound. Early first-trimester abnormalities are often diagnosed by chance on clinical indications, whereas late first-trimester diagnoses are the result of systematic screening using ultrasound markers.