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Second-trimester screening for fetal abnormalities
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Jolene C. Muscat, Anthony M. Vintzileos
Like the EIF, the presence of a choroid plexus cyst is a sonographic finding, which can also be seen in euploid fetuses (Fig. 17). Again, there has been debate in the literature regarding an association between isolated choroid plexus cyst in a low-risk woman and fetal aneuploidy, with most researchers identifying this finding as a benign variant when noted in isolation (26,59).
Intracranial Cysts
Published in Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan, Problem-Based Obstetric Ultrasound, 2019
Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan
Choroid plexus cysts are collections of the cerebrospinal fluid (CSF) due to blockage of the glands in the choroid plexus and seen in 1%–3% of fetuses at the time of the anomaly scan. They are associated with an increase in the risk of trisomy 18 (Edward's syndrome), however, they are rarely an isolated finding in this condition. Assess any prior screening for chromosomal anomalies including non-invasive prenatal screening using maternal cell-free DNA, nuchal translucency at 11–14 weeks, and check the maternal age. The association of choroid plexus cysts with trisomy 18 loses significance in women with previous low-risk screening. If the brain appears otherwise entirely normal, and if the cysts are not very large, they are harmless and almost always disappear later in the pregnancy. Reassurance can be offered and no further follow-up is necessary.
Congenital Tumors
Published in Asim Kurjak, CRC Handbook of Ultrasound in Obstetrics and Gynecology, 2019
Choroid plexus papillomas are usually benign tumors attached to normal choroid plexus. Choroid plexus cysts uniformly disappear by 26 weeks, and, therefore, any cyst persistent beyond that age should be considered of different origin. They can possibly be a subarachnoid cyst or a porencephalic cyst.12
Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report
Published in Ophthalmic Genetics, 2021
Subhi Talal Younes, James Mason Shiflett, Kristin Weaver, Andrew Smith, Betty Herrington, Charlotte Taylor, Kartik Reddy
As a whole, choroid plexus masses are rare in children, accounting for 1% or less of intracranial tumors in children. The most common choroid plexus lesions in children include choroid plexus cysts, choroid plexus papilloma, or choroid plexus carcinoma. Choroid plexus cysts are believed to arise from fluid trapping within the developing neuroepithelium (12). Estimated to be present in one to 2% of the population, such cysts require no intervention. Choroid plexus papilloma and carcinoma are neoplasms; as such, they require treatment. The former can be cured with surgery alone (13). The latter is typically a manifestation of an underlying cancer predisposition syndrome, most commonly, Li Fraumeni (14). These aggressive tumors require resection and adjuvant therapy, usually craniospinal irradiation or intensive chemotherapy regimens (15,16). Unfortunately, survival for choroid plexus carcinoma remains poor. For reasons explained above, none of these entities appeared to be the diagnosis in this patient.
Prenatal management of choroid plexus cyst in a developing country: case report
Published in Journal of Obstetrics and Gynaecology, 2020
Choroid plexus cyst (CPC) is a soft marker for aneuploidy in pregnancy (Chudleigh et al. 1984). The first sonographic description of CPCs was published in 1984; while the associations with aneuploidy, especially trisomy 18, and occasionally trisomy 21 were described in subsequent research publications (Chudleigh et al. 1984; Irani et al. 2015). The cyst results from entrapment of cerebrospinal fluid that is secreted by the choroid plexus in the ventricular system of the brain. It is usually observed on an ultrasound scan from the 12th week of pregnancy until between the 28th and 32nd weeks in the majority of foetuses without any associated abnormality. The prevalence in the second trimester of pregnancy is 0.18–0.36% (Chudleigh et al. 1984; Sullivan et al. 1999; Tayyar and Tayyar 2016). There is still debate on the role of clinical findings, biochemical and ultrasound scan tests’ findings as the indications for invasive diagnostic procedure and karyotyping in the prenatal management of CPC (ACOG Practice Bulletin 2001). The content of prenatal counselling and the line of management of CPC would be influenced by locally available prenatal diagnostic facilities and skills of personnel. Ultrasound scan survey of foetal anatomy to identify other soft aneuploidy markers such as echogenic cardiac foci, short femur, echogenic bowel and cardiac defect, especially a ventricular septal defect (VSD), and maternal serum biochemistry are also important prerequisites for adequate counselling about the nature and prognosis of the condition. In developing countries, the rational management of CPC may be affected by the lack of some of the required facilities and tests for a detailed evaluation of the affected pregnancy.