Pregnancy and Birth > Common Ultrasound Findings> Choroid plexus cysts
Choroid Plexus Cysts

What is a Choroid Plexus Cyst?

The choroid plexuses are structures of the brain that make the cerebrospinal fluid, the fluid that normally flows around the brain and spine. Sometimes fluid becomes trapped and forms pockets  in the choroid plexus. If these pockets are larger than 2 millimeters they are called choroid plexus cysts (CPC).

A choroid plexus cyst is not a birth defect, and does not cause any long term health problems or affect development of the baby’s brain .


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How Common Are Choroid Plexus Cysts?

Choroid plexus cysts are seen during 1% to 3% of all second trimester ultrasound examinations. Choroid plexus cysts are seen at the same rate in fetuses with Down syndrome. However, choroid plexus cysts are seen much more frequently (about 40%) in fetuses with  a condition called  Edwards syndrome (also known as trisomy 18) .

What is Edwards Syndrome?

Edwards syndrome, or Trisomy 18 , is a rare disorder that happens when the baby has  three copies of  chromosome 18 instead of the usual  2 copies. Chromosomes are the structures in the cells of your body that are inherited from each of your parents. Chromosomes hold the instructions for how your body looks and functions. Babies with trisomy 18  have severe mental retardation and usually have many  birth defects, because of the extra chromosome 18. Only 5% to 10 % of infants survive the first year after delivery. Death is usually caused by inability to maintain normal breathing or heart and lung problems

How Can I Tell if My Baby Has Edwards Syndrome (trisomy 18 )?

Other findings that  are often seen in babies with  trisomy 18  include  cleft lip and palate, a small jaw, low set ears, club feet, clenched fists, a single umbilical artery , kidney abnormalities, poor growth, and a high level of amniotic fluid (polyhydramnios) .  More than 90% of babies with trisomy 18  will have  a heart defect.

If the only finding is a choroid plexus cyst  (or cysts) on the ultrasound examination, you are less than 35 years of age, and you have a normal serum screening (quad screen) test, then the chances the baby has trisomy 18  would be very low. 

Amniocentesis may be offered to you to count and examine the chromosomes of the baby. Amniocentesis is a test  in which a fine needle is inserted into the uterus , and a sample of the fluid that surrounds the baby is removed to obtain  the baby's cells that are present the fluid.  The chances of amniocentesis  causing loss of the pregnancy (a miscarriage) due to breaking of your water bag or causing premature labor  is about 1 in 300.

What Happens To The  Choroid Plexus Cysts?

Choroid plexus cysts  generally go away by 28 weeks


Support Groups

Choroid Plexus Cyst Web Site
choroidplexuscyst.org/
A place for expecting parents to exchange information and experiences about choroid plexus cysts in their fetuses

 

REFERENCES

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8. Yoder PR The second-trimester fetus with isolated choroid plexus cysts: a meta-analysis of risk of trisomies 18 and 21.Obstet Gynecol. 1999;93:869-72.PMID:10912435
9. ACOG Practice Bulletin. Clinical Management Guidelines for Obstetrician-Gynecologists. Prenatal diagnosis of fetal chromosomal abnormalities.Obstet Gynecol. 2001;97(5 Pt 1):suppl 1-12. PMID:11501567
10. Trisomy 18 Syndrome. In: Jones, Kenneth Lyons, M.D. Smith's Recognizable Patterns of Human Malformations, Saunders Co: Philadelphia, 1997: 14-15.
11. Coco C, Jeanty P. Karyotyping of fetuses with isolated choroid plexus cysts is not justified in an unselected population. J Ultrasound Med. 2004 Jul;23(7):899-906.PMID:15292557
12. Ouzounian JG, et. al., Isolated choroid plexus cyst or echogenic cardiac focus on prenatal ultrasound: is genetic amniocentesis indicated? Am J Obstet Gynecol. 2007 Jun;196(6):595.e1-3; discussion 595.e3. PMID:17547911
13. Nyberg DA, Souter VL.Sonographic markers of fetal trisomies: second trimester.J Ultrasound Med. 2001 Jun;20(6):655-74. PMID:11400940
14. Cereda A, Carey JC.The trisomy 18 syndrome.Orphanet J Rare Dis. 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID:23088440
15.Coco C, Jeanty P.Karyotyping of fetuses with isolated choroid plexus cysts is not justified in an unselected population. J Ultrasound Med. 2004 Jul;23(7):899-906.PMID:15292557
16. Ouzounian JG, et al., Isolated choroid plexus cyst or echogenic cardiac focus on prenatal ultrasound: is genetic amniocentesis indicated? Am J Obstet Gynecol. 2007 Jun;196(6):595.e1-3; PMID:17547911
17. Dagklis T, et. al., Choroid plexus cyst, intracardiac echogenic focus, hyperechogenic bowel and hydronephrosis in screening for trisomy 21 at 11 + 0 to 13 + 6 weeks.
Ultrasound Obstet Gynecol. 2008 Feb;31(2):132-5. PMID:18085527

Reviewed By Mark Curran MD, FACOG

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