Isolated fetal choroid plexus cysts: not an indication for genetic diagnosis?

Fetal Diagnosis and Therapy
C SohnE Krapfl

Abstract

Offering invasive prenatal cytogenetic testing in cases of isolated choroid plexus cysts is controversial. To give a contribution to this discussion we recorded prospectively the course of 41 fetuses with cysts of the choroid plexus diagnosed in 4,326 pregnancies sonographically scanned in our center between January 1994 and August 1995. The fetuses were all in the 13th to 24th week of gestation, with an average of 19.3 weeks. Only 1 of these fetuses (with large bilateral choroid plexus cysts) had further sonographically visible malformations (renal and cardiac anomalies, malposition of the hands). 34 fetuses had bilateral and 7 one-sided plexus cysts. 38 of the 41 patients decided on invasive diagnosis; karyotyping was successful in all these cases. The complete follow-up until 5 days after birth is known in 38 fetuses, including 3 without genetic diagnosis. A chromosomal aberration was detectable only in 1 fetus (trisomy 18, this fetus had the additional malformations described above), the other fetuses all displaying neither chromosomal nor morphological abnormalities. All fetuses, excluding 1 (the pregnancy was terminated due to trisomy 18) were re-examined before the 25th week of gestation, plexus cysts only still being vi...Continue Reading

Citations

Apr 24, 2001·Current Opinion in Obstetrics & Gynecology·W Sepulveda, J Lopez-Tenorio
Apr 14, 2000·American Journal of Obstetrics and Gynecology·A GhidiniP Vergani
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Feb 24, 2001·The Australian & New Zealand Journal of Obstetrics & Gynaecology·C C ApodacaB C Calhoun
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May 23, 2019·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Constanze KürtenPeter Kozlowski
May 6, 2021·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Yamila Basilotta MarquezBeatriz Mantese

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