Isolated Choroid Plexus Cysts Research Articles

Prenatal chromosomal microarray analysis and karyotyping in fetuses with isolated choroid plexus cyst: A retrospective case-control study

ObjectivesTo evaluate the the diagnostic yield of chromosomal microarray analysis (CMA) in fetuses with isolated CPC (iCPC). MethodsA total of 315 fetuses with iCPC (iCPC group) and 364 fetuses without abnormal ultrasound findings (control group) were recruited between July 2014 to March 2018. ResultsThe overall diagnostic yield of chromosomal abnormalities by CMA and karyotyping in iCPC group was up to 4.1 %, higher than 1.4 % in the control group, p < 0.05. The detection rate of pathogenic or likely pathogenic copy number variants (CNVs) with clinical significance by CMA in iCPC group (1.3 %) was higher than in control group (0 %), p < 0.05. According to the type of chromosome abnormalities, the missed diagnosis rate of non-invasive prenatal testing (NIPT) was 1.6 % in our study. ConclusionsThe presence of iCPC on ultrasound examination suggests a potential indication for genetic counseling. Karyotyping and chromosomal microarray analysis may be considered for fetuses with iCPC. It is important to be aware of the limitations of non-invasive prenatal testing, as there is a possibility of residual risk.

The Effect on 2nd Trimester Biochemical Markers and Pregnancy Outcomes of Patients with Isolated Choroid Plexus Cyst Diagnosed in the Prenatal Period

Amaç: Prenatal ultrasonografide saptanan izole Koroid Pleksus Kistlerinde ikinci trimester yapılan biokimyasal belirteçlerine ve gebelik sonuçları üzerine etkisini araştırmak amaçlanmıştır. &#x0D; Materyal Metod: Çalışma retrospektif olarak dizayn edilmiş olup 2017-2022 yılları arasında Etlik Zübeyde Hanım Kadın Hastalıkları ve Eğitim Araştırma Hastanesinde yapılmıştır. Gebeliğinde izole koroid pleksus kisti saptanan 32 gebe ve tarama ve ultrasonografisi normal olan 31 gebe kontrol grubu olarak dahil edilmiştir. &#x0D; Bulgular: Çalışmaya toplam 63 gebe dahil edilmiştir. 32 gebede izole koroid pleksus kisti (KPK) vardı ve 31 gebe normaldi. Gruplar arasında Estriol (E3) MoM KPK olan grupta diğer gruba göre düşüktü ve istatiksel olarak anlamlıydı ama yinede kabul edilen sınır değerler arasındaydı diğer biokimyasal parametreler açısından anlamlı istatiksel fark bulunmadı. Doğum sonuçları arasında fark bulunamadı. Hiçbir yenidoğanda anomali saptanmadı. &#x0D; Sonuç: 2. Trimestar biokimyasal belirteçleri normal olan ve izole KPK sı olan fetuslarda anomali riski çok düşüktür

Isolated choroid plexus cysts and health and developmental outcomes in childhood and adolescence – A systematic review

ObjectivesChoroid plexus cysts (CPCs) are incidental findings on ultrasound examination of the fetal brain. It is not known if isolated CPCs are associated with any adverse health or neurodevelopmental outcomes during the life course. This systematic review aimed to collate and synthesize the evidence on whether or not isolated choroid plexus cysts are associated with an increased risk of adverse health or developmental outcomes during childhood and adolescence. MethodsA search strategy was developed specifically for this study and applied to four electronic databases Medline (Ovid), Embase (Ovid), Web of Science, and Google Scholar. Studies were assessed and selected for inclusion if there was a measurement of CPC (including single or multiple; unilateral or bilateral; isolated or presenting alongside other markers) during the antenatal or early neonatal period (<7 days) with follow-up of children and adolescents for health and developmental outcomes measured at any time from age 1 month onwards. Study quality was assessed using the Newcastle-Ottawa Quality Assessment Scale. Due to heterogeneity in the types of outcome measures included and the timing of measurement of outcomes across the studies, it was not possible to pool data across studies and a narrative description of findings was presented. ResultsEight studies (three cohorts and five case series) met the inclusion criteria. Different methods were used for outcome assessment, such as in-person assessment, parent questionnaires, medical records, and telephone interviews with parents. Six studies measured outcomes only once during the specified duration of follow-up; two studies carried out paediatric reviews of the children several times during follow-up. There were no differences in developmental outcomes or physical health between babies with CPCs reported in the three cohort studies, and no abnormalities were detected in the children that were followed up in four of the five case series studies. Most of the included studies were graded as low quality due to the small sample size, high risk of selection bias, unclear definitions of CPC or lack of a comparison group. ConclusionsThe studies conducted to date do not provide evidence of adverse physical health outcomes or neurodevelopmental delays in babies with CPCs. However, most of these studies were small and included a narrow range of outcomes. Further research is needed to explore the relative incidence of outcomes such as ASD, ADHD, epilepsy and educational attainment in children with CPCs.

Metabolic characterization of amniotic fluid of fetuses with isolated choroid plexus cyst.

To investigate the amino acid (AA)-related metabolic characteristics of amniotic fluid (AF) obtained by ultrasound-guided amniocentesis from fetuses with isolated choroid plexus cysts of the central nervous system. Ultrasound-guided amniocentesis was performed on 17 fetuses with isolated choroid plexus cysts (ICPCs) and 17 normal fetuses. The AF samples from normal pregnancies were matched with the case samples in a 1:1 ratio based upon gestational age. The AF samples from the 34 fetuses were analyzed by liquid chromatography-mass spectrometry (LC-MS). Then, the peak areas of the metabolites were analyzed by principal component analysis (PCA), partial least squares discriminant analysis (PLS-DA) and univariate statistical analysis. This study ultimately identified 31 AAs. Seven differentially abundant AAs were screened out, includingcitrulline, ethanolamine, aspartic acid, valine, 5-hydroxylysine, proline, and isoleucine (p-value<0.05). A total of 4 metabolic pathways were significantly altered in the ICPC group: valine, leucine and isoleucine biosynthesis; valine, leucine and isoleucine degradation; pantothenate and coenzyme A (CoA) biosynthesis; and arginine biosynthesis. The results of this study indicate that fetuses with ICPC have disrupted levels of citrulline, ethanolamine, aspartic acid, valine, 5-hydroxylysine, proline, and isoleucine, which may ultimately affect fetal glucose and lipid metabolism.

A Bayesian risk analysis for Trisomy 21 in isolated choroid plexus cyst: combining a prenatal database with a meta-analysis

Objective The purpose of this study was to quantify the possible additional risk of a fetus with an isolated choroid plexus cyst (ICPC) for Trisomy 21 by combining a large controlled cohort study with data from existent studies. Methods We searched our prenatal database between 2000 and 2014 for all singleton pregnancies between 18 + 0 and 26 + 6 gestational weeks with either an isolated choroid plexus cyst (study group) or no abnormality found in the detailed ultrasound scan (control group). We assessed all prenatal karyotyping results if invasive testing was performed and attempted to collect the postnatal outcome reports of all patients. The prevalence of Down syndrome was calculated. By using previous studies that met our inclusion criteria, a meta-analysis following the Bayesian Independent Model was created. From this meta-analysis, we computed the posterior predictive distribution of the probability (Trisomy 21 | ICPC) = P1 including posterior means, standard deviations, quantiles (2.5, 50, and 97.5%). By calculating the posterior of the difference (Δ) between the probability (Trisomy 21 | ICPC) and the probability (Trisomy 21 | Normal Ultrasound) = P2, we investigated the additional risk of an ICPC (ΔB = P1–P2). Results Overall, we detected 1220 fetuses with an isolated plexus cyst at 19–27 weeks of gestational age (GA). In our study group, the prevalence of Trisomy 21 was 2/1220 (0.16, 95% CI: 0.1–0.6%). The median of the pooled probability of Trisomy 21 given isolated PC across the studies included in the meta-analysis was 0.2% (CI: 0.1–0.4%). In the given periods (GA and time), 66,606 (74.8%) out of 89,056 investigated fetuses met the inclusion criteria and had a normal ultrasound result without any abnormality. The Δ between our study group and the control group was 0.08% (CIΔA: 0–0.5%). Including the meta-analysis, the median of the posterior distribution of Δ between P1 and P2 was 0.08% (CIΔB: 0–0.4%) (ΔB = P1–P2). Conclusion The posterior distribution of Δ between P1 and P2 including the meta-analysis corresponds to showing no difference between the cases and controls (95% CIΔB: 0–0.4%). The additional risk of a fetus with an ICPC for Trisomy 21 is 97.5% likely to be lower than 0.4% (about 1/250). However, in our collective, the positive predictive value of ICPC for Down syndrome was 0.16% (about 1/625). In prenatal counseling, the additional risk should be added to the individual risk (based on maternal age, earlier screening test results, and sonographic markers) and the diagnostic options including fetal DNA and diagnostic procedures should be discussed according to the posterior individual risk.

P09.17: The natural history and postnatal outcomes in fetuses with isolated choroid plexus cysts found at prenatal ultrasound scan in a single referral centre

P09.17: The natural history and postnatal outcomes in fetuses with isolated choroid plexus cysts found at prenatal ultrasound scan in a single referral centre

Sonographic Findings of Trisomy 18 in the Second Trimester of Pregnancy

The purpose of this study was to examine the sonographic findings in fetuses with trisomy 18 in the second trimester of pregnancy. A retrospective review of the cytogenetic laboratory databases at 6 tertiary referral centers identified all cases of trisomy 18. The prenatal sonographic studies in fetuses at 15 to 21 weeks' gestation, done before invasive testing for the karyotype, were reviewed for anatomic and biometric findings. We defined abnormal fetal biometric findings as a biometric measurement (biparietal diameter, abdominal circumference, or femur length) below the fifth percentile in the second trimester. Of 98 fetuses with trisomy 18, 95 (97%) were detected sonographically; an anomaly was found in 92 (94%). A biometric measurement below the fifth percentile was noted in 50 (51%). Cardiac (63%) and central nervous system (34%) anomalies were most frequently detected. Although choroid plexus cysts were commonly seen, no fetuses with trisomy 18 and isolated choroid plexus cysts were found. Targeted sonography identified abnormal fetal anatomy or abnormal biometric findings in 97% of fetuses with trisomy 18 in the second trimester. A biometric measurement below the fifth percentile was noted in half of the cases in the second trimester.

Isolated choroid plexus cyst or echogenic cardiac focus on prenatal ultrasound: is genetic amniocentesis indicated?

Isolated choroid plexus cyst or echogenic cardiac focus on prenatal ultrasound: is genetic amniocentesis indicated?

Isolated choroid plexus cyst or echogenic cardiac focus on prenatal ultrasound: is genetic amniocentesis indicated?

The purpose of this study was to determine whether or not genetic amniocentesis is warranted when isolated choroid plexus cysts (CPC) or echogenic cardiac foci (EF) are noted on prenatal ultrasound. We performed a retrospective analysis on patients from our perinatal database. All obstetric patients with CPC or EF noted on second-trimester perinatology ultrasound from April, 1998 to November, 2004 were included. Information regarding ultrasound findings and neonatal outcome were analyzed. During the study period, 515 patients with CPC or EF were evaluated. Of these, 429 (83.3%) had isolated CPC or EF and 86 (16.7%) had additional risk factors. The incidence of abnormal karyotype was 0 versus 2.3%, respectively (P = .03). The additional risk factors considered were: advanced maternal age, abnormal serum triple marker screening, and/or other abnormal ultrasound findings. Furthermore, during the study period there were 20,122 live births and 27 (0.1%) cases of aneuploidy diagnosed postnatally. Of these, none had isolated CPC or EF on prenatal ultrasound. CPC or EF noted on prenatal ultrasound warrants referral for careful consultative ultrasound evaluation. In the absence of other risk factors, however, genetic amniocentesis for isolated CPC or EF does not appear to be necessary.

Ultrasound screening for fetal major abnormalities at 11–14 weeks

This study was planned to evaluate the efficiency of the 11-14 week scan in detecting fetuses with major fetal structural abnormalities. Some 1,290 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week after the detection of the fetal viability. The fetal anatomy was examined transabdominally, and in suspected cases transvaginally. Following the scans, the patients were examined in the second or third trimester of pregnancy. Fetal structural abnormalities classified as major and early onset were noted. Isolated choroid plexus cysts, cardiac defects not requiring treatment, mild ventriculomegaly, and mild renal pelviectasis in second trimester were not included. Twenty-four (1.86%) fetuses with various defects were identified, and 17 of these were diagnosed at the 11-14 week scan. The antenatal ultrasound detection rate of the fetuses with major anomalies was 95%, and 70% were detected in the first-trimester assessment. Four cardiac defects associated with genetic syndromes or requiring operation were included (0.31%) in this series. Two of the fetuses with cardiac defects (50%) had an increased nuchal translucency thickness. In this group, none of the fetuses with karyotype anomalies was born alive. The first-trimester scan is important in routine antenatal care for early detection of fetal defects, and determination of the fetuses at risk of cardiac anomalies and genetic syndromes.

OP01.04: Should isolated choroid plexus cyst(s) or intracardiac echogenic foci detected in the low‐risk population be referred for tertiary scans?

OP01.04: Should isolated choroid plexus cyst(s) or intracardiac echogenic foci detected in the low‐risk population be referred for tertiary scans?

P01.07: Do isolated choroid plexus cysts or echogenic intracardiac foci warrant invasive genetic testing?

P01.07: Do isolated choroid plexus cysts or echogenic intracardiac foci warrant invasive genetic testing?

P01.16: Is the karyotyping of fetuses with isolated choroid plexus cysts warranted?

P01.16: Is the karyotyping of fetuses with isolated choroid plexus cysts warranted?

Developmental outcome of children who had choroid plexus cysts detected prenatally

The purpose of this study was to evaluate cognitive, motor, language and adaptive behavior development in children who had isolated choroid plexus cysts (CPC) detected prenatally. A retrospective double cohort design and standardized psychometric measures were used to compare the development of children who had isolated CPCs identified prenatally with a control group of children who had normal prenatal ultrasounds. Our study cohort (n = 37) had a mean age of 3.88 years (SD = 0.83) and the control cohort (n = 48) had a mean age of 4.62 years (SD = 1.03). The age difference between our cohorts was significant. There were no differences between cohorts in socioeconomic status, sex, birth weight or gestational age. Cognitive data showed no clinically significant difference in Full Scale IQ using the WISC-III or WPPSI-R (CPC = 113.97, control = 116.69). Scores on standardized measures of motor and adaptive functioning also did not show any significant group differences. Children with CPCs did score significantly lower than controls on some of the measures of verbal functioning; however, this difference was not associated with clinically significant delays. We conclude that the presence of isolated CPCs on midtrimester ultrasound are unlikely to be associated with any significant neurocognitive delays in early childhood.

Second-trimester sonography and trisomy 18.

This report presents the findings seen on initial second-trimester sonography in a large group of fetuses with trisomy 18. The object of this study was to describe the types and frequencies of abnormal sonographic findings seen and to further evaluate those cases in which no abnormal findings were noted. A retrospective chart review of the prenatal sonograms in cases of trisomy 18 was conducted. Forty-nine fetuses with trisomy 18 were examined by second-trimester sonography. Multiple fetal anomalies were seen in most cases. The most frequent structural findings involved the brain (82%), heart (55%), and upper extremities (53%). Growth abnormalities occurred in 39% of these fetuses. Choroid plexus cysts were the most common individual findings. Larger cysts increased the likelihood of trisomy 18, although no fetuses with trisomy 18 had isolated choroid plexus cysts. Seven fetuses (14%) had no anomalies seen on their initial scans. In each of these scans, the fetal anatomy was incompletely visualized because of technical constraints. Six had subsequent scans approximately 2 weeks later, which showed abnormal sonographic findings. Most fetuses with trisomy 18 were identified by structural anomalies, typically seen in the brain, heart, and upper extremities. Larger choroid plexus cysts were associated with this aneuploidy. Technical factors, which limit fetal visualization, were noted in all cases in which no sonographic abnormalities were detected during the initial sonographic examinations. Detection of abnormal cases will rely on a completed evaluation of a routine fetal anatomic survey.

Second-trimester sonography and trisomy 18: the significance of isolated choroid plexus cysts after an examination that includes the fetal hands.

To estimate the risk of trisomy 18 with the finding of isolated choroid plexus cysts after a standard sonographic examination that is extended to include the fetal hands. Aretrospective chart review was performed on all fetuses with choroid plexus cysts on second-trimester sonographic examinations. When choroid plexus cysts were identified, our standard protocol for fetal evaluation was expanded to include the hands. If no other findings were noted on completion of this examination, the choroid plexus cysts were classified as "isolated." These results were correlated with the presence or absence of trisomy 18 to determine the impact of this approach for the detection of fetuses with this aneuploidy. From March 1990 to the end of 2001, 49,435 fetuses that were subsequently delivered at our hospital were scanned between 16 and 25 menstrual weeks. At least 1 choroid plexus cyst was detected in 1209 fetuses (2.3%), of which 1060 were isolated. No fetuses with isolated choroid plexus cysts had trisomy 18. However, 3 fetuses with trisomy 18 had choroid plexus cysts and abnormal hands as their only abnormal findings. Fetuses with an apparently isolated finding of choroid plexus cysts can be further evaluated by extending the standard examination to include the hands. If no other findings are identified, the risk of trisomy 18 appears to be low.

Second trimester choroid plexus cysts and trisomy 18

Objectives: In this study, the aims were to reveal the incidence of isolated choroid plexus cyst in our population, and to discuss the accuracy of distinguishing either an isolated or non-isolated choroid plexus cyst. Methods: The study population was consisted of 10 594 pregnant women. The patients with choroid plexus cysts were classified into two groups: isolated and non-isolated. Detailed ultrasonographic examination and genetic counseling were performed and triple screening test was ordered. The incidence, sensitivity, specificity, false-positive rate and likelihood ratio of cases with isolated choroid plexus cyst for trisomy 18 were determined. Results: Choroid plexus cysts were identified in 109 patients (109/10 594; 1.02%). In 102 patients isolated choroid plexus cysts, and in seven patients additional fetal anomalies supporting trisomy 18 were detected. Trisomy 18 was detected in four patients, and one of them had isolated choroid plexus cyst. The likelihood ratio in cases of isolated choroid plexus cysts for trisomy 18 was 9.51 (95% confidence interval, 0.2–41). Conclusions: According to the study the individual risk for trisomy 18 in isolated choroid plexus cyst should be calculated by using the likelihood ratio. These data allows the physician to express the individual risk of trisomy 18 and permits more accurate genetic counseling.

OC059: Karyotyping of fetuses with isolated choroid plexus cyst or with associated minor marker is not justified in a low-risk population

Choroids plexus cysts (CPC) are important for their association with fetal aneuploidy, particularly trisomy 18, which some authors described almost 20 years ago. In spite of numerous works through the years a clear-cut link between trisomy 18 and CPC has not been found. We analyzed 16 272 patients referred to our centre from January 1998 to December 2002. Only the patients with a first examination between 16 and 23 gestational weeks were included. Fetuses with a CPC were checked for either an amniocentesis (amnio) or a normal outcome at birth. From the group of CPC extracted, fetuses with associated anomalies were noted. From the group with associated anomaly a group with minor and a group with major was extracted. From the total, 366 had CPC, that is 2.9%, 311 had no other associated anomalies; either the karyotype or the postnatal pediatric examination was normal, 55 of the patients had associated anomalies, from this group 12 fetus with present major anomaly were extracted and in two cases the amnio revealed two cases of trisomy 18. The other 10 cases had normal karyotype. The 43 fetuses with CPC and minor finding had either a normal amniocentesis or pediatric examination at birth. In addiction, in the period of study we identified overall 6 fetuses with karyotypically proven trisomy 18. In the 4 fetuses with trisomy 18, the presence of major anomalies in absence of CPC, strongly suggests the performance of a karyotype. In the isolated CPC there is not evidence of aneuploidy. If the isolated CPC had been aggressively pursued the total fetal loss would have been increased to 1.55 fetus assuming a commonly quoted risk of 1 : 200 miscarriage. Another reason is that the trisomy 18 is considered uniformly fatal, there is another important factor to consider the exposure of healthy population at the karyotype risk for recognized a very small population with a very poor prognosis.

Isolated choroid plexus cyst in low-risk women less than 35 years old

Objective: The purpose of this study was to determine the incidence of trisomy 18 in women who are <35 years old and who have sonographically detected isolated choroid plexus cyst. Study Design: A meta-analysis of prospective trials that were published in the English language between 1990 and 2000 was performed. Each trial met the following inclusion criteria: (1) prospective trial, (2) total population screened during the study period reported, (3) maternal age (either numeric or descriptive) reported, and (4) pregnancy/neonatal outcomes reported. An isolated choroid plexus cyst for the purpose of this study was defined as absence of sonographically detected structural abnormalities and normal serum analyte screens, if reported. Results: Eight trials met the criteria and were used for analysis. A total of 106,732 women were screened through articles that were published between 1990 and 2000. The total number of fetuses with choroid plexus cysts that were identified in second-trimester scans were 1235 (incidence, 1.2%). The incidence of isolated choroid plexus cysts in women who were <35 years old was 1.0% (n = 1017 women). There were no cases of trisomy 18 in women with isolated choroid plexus cyst who were <35 years old. Four structural abnormalities were noted on postnatal examination; all four neonates had normal karyotypes. Conclusion: There is no evidence that detection of isolated choroid plexus cyst in women who are <35 years of age increases the risk of trisomy 18. Therefore, amniocentesis is not warranted because of the inherent risk of pregnancy loss that is associated with the procedure. Better algorithms are needed to screen women who have a low risk for trisomy 18. (Am J Obstet Gynecol 2002;187:1246-9.)

625 Isolated choroid plexus cyst and the risk of trisomy 18: 979 cases

625 Isolated choroid plexus cyst and the risk of trisomy 18: 979 cases