Simon

J.

Ostlere,

MRCP,

FRCR

C. Irving,

#{149} Henry

FRCR

#{149} Richard

Lilford,

J.

MRCOG,

MRCP,

PhD

fetal

chonoid

Fetal Choroid Plexus Cysts: A Report of 100 Cases’ A prospective study was undertaken to evaluate the prevalence and significance of fetal choroid plexus cysts detected on screening ultrasound (US) scans. One hundred cases of fetal choroid plexus cysts were detected from 11,700 examinations: There were 95 healthy newborns, three newborns with trisomy 18, one newborn with syndactyly of the toes, and one intrauterine death. In the three neonates with trisomy 18 the cysts were large (>1 cm in diameter), and additional abnormalities were detected. Although there is a clear association between fetal choroid plexus cysts and trisomy 18, amniocentesis or chorionic villus sampling should be reserved for high-risk patients with either large cysts or US evidence of other abnormalities. Index terms: Choroid plexus, neoplasms, 1617.31, 1617.1842 #{149} Choroid plexus, US studies, 1617.1298 #{149} Fetus, abnormalities, 856.874 Fetus, US studies, 856.1298 #{149} Trisomy 18 Radiology

1990;

#{149}

175:753-755

30

U)

20

z U.

0 10 0

z

0.1

0.2

0.3

0.4

0.5

lflnnr. !

0.6

SIZE

Figure

1.

0.7

0.8

0.9

CYST

OF

Distribution

1

1.1

1.2

1.3

1.4

1.5

(CUS)

of maximum

ameter in fetuses with choroid . = trisomy 18, D normal.

cyst

plexus

di-

cysts. Figure cysts

C

within the fetal choroid plexus are occasionally detected at ultrasound (US) scanning of women in the second trimester of pregnancy. Although the vast majority of these cysts resolve spontaneously and are not associated with any morbidity, several reports in the literatune have indicated a possible association between fetal choroid plexus cysts and chromosomal abnormalities, principally trisomy 18. To evaluate accurately the prevalence and significance of fetal chonoid plexus cysts, we undertook a prospective study involving approximately 1 1,700 routine dating scans. The first

MATERIALS

AND

METHODS

At our institution routine antenatal ing scanning is performed at approximately 16-18 weeks gestation. During first From the Departments of Radiology (S.J.O., H.C.I.) and Obstetrics (R.J.L.), St James’s University Hospital, Leeds LS9 7TF, England. From the 1989 RSNA annual meeting. Received November 6, 1989; revision requested December 20;

revision

received

January 16. Address c RSNA, 1990

January

reprint

1 1, 1990;

requests

Bilateral

plexus

fetus.

YSTS

7,000 scans, including 42 cases of fetal choroid plexus cysts, are the subject of a previous report (1).

1

2.

in a healthy

24 months

of the

scanning was art equipment

performed

on

(Hitachi

EUB

Medical,

Tokyo],

study,

60%

3.5-MHz

accepted

3.5-MHz

months formed

linear

array).

the

of all

state-of-the-

340

[Hitachi

curvilinear

nay) and 40% on an older model fenior spatial resolution (Hitachi

to H.C.I.

dat-

During

of the study all scanning on the Hitachi EUB 340.

an-

with inEUB 25, the

last

6

was perAll ex-

aminations included careful inspection of the choroid plexuses. All scans were necorded on photographic film and reviewed by a senior sonognaphen. When choroid plexus cysts were detected, follow-up scans were arranged at approximately 26 weeks. Further scans were obtamed if the cysts had not resolved or if other abnormalities were detected. All newborns underwent routine postnatal clinical examination. ysis was reserved

whom clinically

for

chromosomal

Chromosornal those neonates

abnormalities

analin

were

suspected.

RESULTS One hundred cases of fetal choroid plexus cysts were detected among the estimated 1 1,700 scans obtained oven a 21h-year period. Scans obtained with the newer Hitachi EUB 340 equipment showed fetal choroid plexus cysts in one of 90 pregnancies, compared with one of 300 when the older Hitachi EUB 25 was used. The cysts were bilateral in 52 fetuses, unilateral and multiple in six, and solitary in 42. When the long axis of the fetal head was perpendicular to the scan plane, 75% of the solitary cysts were detected in the plexus farthest from the scanning probe. The cysts varied considerably in size and shape 753

Table

1

Three

Cases

of Trisomy

18 with

Case

Cyst Size (cm)

Gestational Age (wk)

Location of Cysts

1

20

Bilateral

1

Choroid

Plexus

Follow-up 26 wk:

Cysts Additional Sonographic Findings

Findings

cysts

mal neonatal

resolved, head

nor-

Ventniculoseptal

scan

intrauterine

defect,

growth

re-

tardation

2

1.5

19.5

Bilateral

25 wk: cysts still present 31 wk: cysts resolved, normal neonatal head scan

Bilateral hydronephrosis, polyhydramnios, intrauterine growth retarda-

3

1.5

17

Bilateral

18 wk: 21 wk:

Diaphragmatic

tion amniocentesis cysts resolved

22 wk: termination Figure cysts

3. Bilateral in a fetus with

Table

2 of Reported

Summary

754

#{149} Radiology

of Trisomy

Cases

18 with

Choroid

Plexus

Cyst Source Nicolaides

Karyotype

et al (4)

Bundy et al (5) Ricketts et al (6) Farhood et al (7) Furness (8) Chitkara et al (9) Khouzam and Hooker(10) Fitzsimmons et al (11)

Gabrielli Clark (13) Hertzberg *

5j

judged

Postmortem I Mean size. t

(cm)

Age

(wk)

Location

18

Not

stated

24

Bilateral

Tnisomy

18

Not

stated

24

Trisomy

18

Not

stated

18

Tnisomy Tnisomy Trisomy Tnisomy Trisomy

18 21 18 18 18

Large* Not stated 0.5t Lange 2.0

18 23 20 15 18

Bilateral Bilateral Bilateral Not stated Bilateral Bilateral Bilateral

Tnisomy

18

1.2

17

Bilateral

0.5I 0.5t4 0.7t.t 1.2t4 0.8t4

I

Detailed anomaly scan (20-22 wk)

-

Figure

stated

Bilateral

US examination.

.-----.-------------..----

Nofurther

Cysts

Gestational

Tnisomy

18 18 18 Trisomy 18 Tnisomy 18 Fourcases of tnisomy 18 Tnisomy 21 Tnisomy 18

et al (14) from

Size

Trisomy Tnisomy Trisomy

et al (12)

DISCUSSION Fetal choroid plexus cysts are a common finding at autopsy in all age groups including the fetus (2). The sonographic detection of fetal choroid plexus cysts was first described by Chudleigh et al in 1984 in a report of five cases associated with uncomplicated pregnancies and healthy infants (3). Although it has become generally accepted that the vast majonity of fetal choroid plexus cysts are entirely benign, there are a growing number of reports indicating an association with tnisomy 18 and possibly tnisomy 21 . Nicolaides et al initially postulated the link when reporting three cases of tnisomy 18 out of four

of

pregnancy

large choroid plexus trisomy 18 (case 3).

(Fig 1). A typical example of bilateral cysts in a healthy fetus is shown in Figure 2. Follow-up scans at approximately 26 weeks gestation were obtained in 95 cases, and resolution of the cysts was seen in all but five. At about 30 weeks these persistent fetal chonoid plexus cysts had also resolved in four cases. We were unable to follow up the fifth patient. There were 98 live births: 95 healthy neonates, two neonates with trisomy 18, and one neonate with bilateral syndactyly of the second and third toes. Five otherwise healthy fetuses showed intrauterine growth netardation. One intrauterine death at 23 weeks gestation resulted from pneeclamptic toxemia. In the remaining fetus (Fig 3), the presence of large bilateral choroid plexus cysts and a diaphragmatic hernia prompted physicians to perform chromosomal analysis of the amniotic fluid. The results confirmed the diagnosis of trisomy 18, and the pregnancy was terminated at 21 weeks gestation. Table 1 summarizes the details of the three cases of tnisomy 18.

hernia

management

fetuses with choroid plexus cysts mefenred for fetal cord blood sampling (4). The authors’ conclusions have since been supported by the results of several anecdotal reports and a vaniety of studies. Excluding this present series, to our knowledge there have been 18 cases of trisomy

of fetal

18 and

choroid

two

cases

Termination of pregnancy

plexus

cysts.

of tnisomy

21 associ-

ated with fetal chonoid plexus cysts reported in the literature (4-14), and these are summarized in Table 2. Three cases of tnisomy 18 (diagnosed with the aid of chromosomal analysis) with fetal choroid plexus cysts were detected in this prospec-

June

1990

tive study. On reviewing the records of the cytogenetics department, which is responsible for all chromosomal analyses in the region, we found that only one additional case of tnisorny 18 (diagnosed postnatally) was recorded among the population without choroid plexus cysts. Therefore fetal chonoid plexus cysts are a fairly sensitive but nonspecific sign of tnisomy 18. This view is supported by Fitzsimmons et al, who found at postmortem US examination that 71% of fetuses with trisomy 18 that were aborted in the second trimester had choroid plexus cysts (1 1). The pathologic features of these cysts have occasionally been studied. Farhood et al described the histologic features of choroid plexus cysts in two healthy fetuses following elective abortion and in one fetus with trisomy 18 (7). In each fetus the cysts were surrounded by loose stromal tissue and did not have an epithelial lining. Postmortem studies in five cases of fetal chonoid plexus cysts (four with trisomy 18) reported by Gabrielli et al revealed cysts filled with clear fluid surrounded by normal chonoid plexus tissue (12). One disadvantage of screening a population for disease is that certain findings may be ambiguous and furthen, possibly invasive, tests would be required to determine whether disease is present. Amniocentesis and chorionic villus sampling are associated with a low, but significant, complication rate, and it is therefore desirable to define carefully the criteria for offering these tests to patients. With knowledge of the current available information, we suggest follow-

Vnlume

175

Number

#{149}

3

ing the scheme illustrated in Figure 4. It should be appreciated that since fetal choroid plexus cysts nearly always resolve, the size of the cysts will be influenced by the gestational age of the fetus at the time of scanning. All three cases of trisomy 18 in this report had bilateral cysts with a maximum diameter of 1 cm or more. This tendency for the cysts to be large and bilateral has been seen in previous reports (Table 2). Pensistence of the cysts beyond 26 weeks gestation occurs in both normal and trisomy 18 fetuses and is not a useful sign. The most important differentiating factor between normal and trisomy 18 fetuses is the detection of other structural abnormalities. Although it is not certain how sensitive these other anomalies are, it seems reasonable to offer a detailed scan if the cysts are 5 mm or larger with specific reference to the fingers, feet, heart, and abdominal wall. If the cysts are larger than 1 cm, the use of a confinmatory invasive test might be appropniate. In conclusion, although fetal choroid plexus cysts detected during the second trimester of pregnancy may be entirely benign in the majority of patients, a few will be associated with tnisomy 18. Features that positively correlate with the presence of trisomy 18 are large cysts, bilateral cysts, the presence of other structural abnormalities, and intrauterine growth retardation. The physician should take these factors into account before offering the patient an invasive prenatal diagnostic test. U

References 1.

2.

3.

Ostlere SJ, Irving HC, Lilford RJ. A prospective study of the incidence and significance of fetal choroid plexus cysts. Prenat Diagn 1989; 9:205-211. Shuangshoti 5, Netsky MG. Neuroepithelial (colloid) cysts of the nervous system. Neurology 1966; 16:887-903. Chudleigh

P, Pearce

JM,

Campbell

S.

The

prenatal diagnosis of transient cysts of the fetal choroid plexus. Prenat Diagn 1984; 4:135-137.

4.

Nicolaides KH, Rodeck CH, Gosden CM. Rapid karyotyping in nonlethal fetal malformations. Lancet 1986; 1:283-287.

5.

Bundy

6.

C, Emerson D, Doubilet PM. Antenatal sonographic findings in trisomy 18. J Ultrasound Med 1986; 5:361-364. Ricketts NEM, Lowe EM, Patel NB. Prenatal diagnosis of choroid plexus cysts. Lancet 1987; 1:213-214. Farhood Al, Morris JH, Bieber FR. Tran-

7.

AL,

sient

cysts

J Med Furness trisomy

9.

Chitkara

10.

11.

12.

of the

Genet

8.

kins

Saltzman

fetal

1987;

Prober

choroid

B, Fine

plexus.

Am

27:977-982.

ME. Choroid plexus cysts and 18 (letter). Lancet 1987; 2:693.

U, Cogswell

IA,

Mehalek

C, Norton

K, Wil-

K, Berkowitz

RL.

Cho-

roid plexus cysts in the fetus: a benign anatomic variant or pathological entity? report of 41 cases and review of the literature. Obstet Gynecol 1988; 72:185189. Khouzam MN, Hooker JC. The significance of prenatal diagnosis of choroid plexus cysts. Prenat Diagn 1989; 9:213216. Fitzsimmons J, Wilson D, Pascoe-Mason J, Shaw CM, Cyr DR. Mack LA. Choroid plexus cysts in fetuses with trisomy 18. Obstet Gynecol 1989; 73:257-260. Gabrielli

S, Reece

clinical

Clark cysts”

A, Pilu

significance

nosed choroid Gynecol 1989; 13.

DH,

SL. (letter).

Reply

G, et al.

The

of prenatally

plexus cysts. 160:1207-1210. to “Fetal Obstet

Gynecol

diag-

Am

J Obstet

choroid

plexus 1989;

73:302.

14.

Hertzberg BS, Kay HH, Bowie JD. Fetal choroid plexus lesions: relationship of antenatal sonographic appearance to clinical outcome. J Ultrasound Med 1989; 8:77-82.

Acknowledgment: We thank the ultrasound radiographers at St James’s University Hospital for their invaluable contribution to this study.

Radiology

#{149} 755

Fetal choroid plexus cysts: a report of 100 cases.

A prospective study was undertaken to evaluate the prevalence and significance of fetal choroid plexus cysts detected on screening ultrasound (US) sca...
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