“…At least half of the septated cystic hygroma cases were reported to be coexisting with chromosomal abnormalities. Recently, Scholl et al reported that abnormal karyotype rates were 43.4% in fetuses with cystic hygroma detected when CRL measured below 45 mm and 73% fetuses with CRL was 45-84 mm (7). If nuchal translucency measurement was above 2 mm, 60% were related with abnormal karyotype and one fourth of these cases were detected to have trisomy 21.…”
<p><strong>Objective:</strong> Cystic hygromas of nuchal origin are reported to be associated with fetal aneuploidy and structural anomalies in 50-80% of the cases. We aimed to report our experience on cystic hygromas via 18 cases.</p><p><strong>Study Design:</strong> We conducted a retrospective study based on a review of medical records of patients who had fetal septated cystic hygroma, diagnosed by ultrasonography, in the Ankara University School of Medicine, Department of Obstetrics and Gynecology, between 2012 and 2016. All patients were provided with genetic counselling and prenatal invasive diagnostic procedures were applied to obtain fetal karyotype.</p><p><strong>Results:</strong> We observed 18 cases of fetal cystic hygroma among these patients (0.39%). The abnormal karyotypes were: Turner syndrome (45X0) in 3 (16.7%), trisomy 21 in 2 (11.1%), trisomy 18 in 1 (5.6%) and mosaic Turner syndrome in 1 (5.6%) patient.</p><p><strong>Conclusion:</strong> The presence of cystic hygroma carries a high risk for aneuploidy and major structural malformations. Invasive prenatal diagnostic procedures for fetal karyotype analyses and parental counselling about poor perinatal prognosis is mandatory.</p>
“…At least half of the septated cystic hygroma cases were reported to be coexisting with chromosomal abnormalities. Recently, Scholl et al reported that abnormal karyotype rates were 43.4% in fetuses with cystic hygroma detected when CRL measured below 45 mm and 73% fetuses with CRL was 45-84 mm (7). If nuchal translucency measurement was above 2 mm, 60% were related with abnormal karyotype and one fourth of these cases were detected to have trisomy 21.…”
<p><strong>Objective:</strong> Cystic hygromas of nuchal origin are reported to be associated with fetal aneuploidy and structural anomalies in 50-80% of the cases. We aimed to report our experience on cystic hygromas via 18 cases.</p><p><strong>Study Design:</strong> We conducted a retrospective study based on a review of medical records of patients who had fetal septated cystic hygroma, diagnosed by ultrasonography, in the Ankara University School of Medicine, Department of Obstetrics and Gynecology, between 2012 and 2016. All patients were provided with genetic counselling and prenatal invasive diagnostic procedures were applied to obtain fetal karyotype.</p><p><strong>Results:</strong> We observed 18 cases of fetal cystic hygroma among these patients (0.39%). The abnormal karyotypes were: Turner syndrome (45X0) in 3 (16.7%), trisomy 21 in 2 (11.1%), trisomy 18 in 1 (5.6%) and mosaic Turner syndrome in 1 (5.6%) patient.</p><p><strong>Conclusion:</strong> The presence of cystic hygroma carries a high risk for aneuploidy and major structural malformations. Invasive prenatal diagnostic procedures for fetal karyotype analyses and parental counselling about poor perinatal prognosis is mandatory.</p>
“…found that fetuses with a cystic hygroma detected at an early gestation (when the CRL was 45 mm and below) often had a normal karyotype (26 fetuses out of 28 with a cystic hygroma at CRL 45 mm or below). 17 The rate of IVF conceptions was considerably higher in our cohort than in the general obstetric population, since 14.1% of pregnancies were conceived via IVF, compared with 4.7% of births in Australia that were conceived using some type of assisted reproductive technology. 18 This is likely due to the practice's affiliation with an IVF provider, who refer a significant number of their patients to this clinic.…”
Section: Main Findings and Clinical Implicationsmentioning
Objective: This study aims to determine the incidence of ultrasound findings that may change clinical management on the day of blood-sampling for cell-free DNA (cfDNA) screening. Methods: A retrospective study was conducted at a tertiary provider of obstetric and gynecological ultrasound in Melbourne, Australia. Individual patient files were reviewed and results were collated for maternal characteristics, pre-cfDNA ultrasound reports, results and test characteristics of both cfDNA and diagnostic testing, and genetic counselling notes. The primary outcome was a potential change in patient management due to findings detected on the pre-cfDNA ultrasound. Results: Of 6250 pre-cfDNA ultrasounds, 6207 were included in analysis. Of these, 598 (9.6%) pregnancies had a finding on pre-cfDNA ultrasound that had the potential to change management. The reasons for this potential change in management were detection of gestational age below 10 weeks (245, 3.9%), miscarriage (175, 2.8%), demised twin (43, 0.7%), fetal edema (115, 1.9%) and major structural abnormalities (20, 0.3%). These findings were more common in patients of advanced maternal age and in spontaneous conceptions. Conclusions: An ultrasound prior to cfDNA screening has the potential to change clinical management in almost one in 10 women. The proportion is higher in older age groups and lower in IVF-conceived pregnancies.
“…In cases where a foetus is referred with a prenatal diagnosis of cystic hygroma (usually in the setting of foetal hydrops), we have also found that these cystic masses can ‘resolve’ [55], much like the appearances of ventriculomegaly, thus the role of PMUS is to review associated structural anomalies rather than identify the cystic hygroma itself. Associated anomalies (commonly intracranial in origin) are estimated to occur in 36–55.6% of cases, and usually related to an abnormal genetic karyotype [56, 57] which will have implications for prenatal counselling in future pregnancies [58]. Fig.…”
There has been an increasing demand and interest in post-mortem imaging techniques, either as an adjunct or replacement for the conventional invasive autopsy. Post-mortem ultrasound (PMUS) is easily accessible and more affordable than other cross-sectional imaging modalities and allows visualisation of normal anatomical structures of the brain, thorax and abdomen in perinatal cases. The lack of aeration of post-mortem foetal lungs provides a good sonographic window for assessment of the heart and normal pulmonary lobulation, in contrast to live neonates.
In a previous article within this journal, we published a practical approach to conducting a comprehensive PMUS examination. This covered the basic principles behind why post-mortem imaging is performed, helpful techniques for obtaining optimal PMUS images, and the expected normal post-mortem changes seen in perinatal deaths. In this article, we build upon this by focusing on commonly encountered pathologies on PMUS and compare these to autopsy and other post-mortem imaging modalities.
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