Cited by 193Prenatal Screening and DiagnosticsCongenital Anomalies and Fetal SurgeryPediatric Urology and Nephrology Studies

Megacystis at 10–14 weeks of gestation: Chromosomal defects and outcome according to bladder length

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Liao, A. W., Sebire, N. J., Geerts, L., Cicero, S., Nicolaides, K. H.·2003·Ultrasound in Obstetrics & Gynecology

Abstract

Aims: To examine the prevalence of chromosomal defects and outcome of fetuses with megacystis at 10–14 weeks of gestation. Methods: At the 10–14‐week scan fetal megacystis was defined by a longitudinal bladder diameter of 7 mm or more. In 145 such fetuses the fetal karyotype and pregnancy outcome were examined in relation to the longitudinal diameter of the fetal bladder. Results: Chromosomal defects, mainly trisomies 13 and 18, were present in 30 cases. In the group with longitudinal bladder diameter of 7–15 mm the incidence of chromosomal defects was 23.6% (26/110), whereas in those with bladder diameter > 15 mm the incidence was 11.4% (4/35). The fetal nuchal translucency (NT) was above the 95th centile of the normal range for crown–rump length in a higher proportion of cases with abnormal rather than normal karyotype (76.7% compared to 31.3%; Chi‐square P < 0.0001). The expected number of cases of trisomy 21, estimated on the basis of maternal age, gestational age and fetal NT, was 6.2 rather than the observed 2 and the corresponding numbers for trisomies 13 or 18 were 4.2 for expected and 24 for observed. In the chromosomally normal group with longitudinal bladder diameter of 7–15 mm follow‐up scans demonstrated spontaneous resolution of the megacystis in 90% of the cases and enlargement of the megacystis and/or the development of echogenic kidneys in 10%. In contrast, none of the cases with bladder diameter > 15 mm demonstrated spontaneous resolution of the megacystis. Conclusions: In fetal megacystis with longitudinal bladder diameter of 7–15 mm there is a risk of about 25% that the fetus will have a chromosomal defect but in the chromosomally normal group there is spontaneous resolution of the megacystis in about 90% of cases. If the bladder diameter is > 15 mm the risk of chromosomal defects is about 10% and in the chromosomally normal group the condition is invariably associated with progressive obstructive uropathy. Copyright © 2003 ISUOG. Published by John Wiley & Sons, Ltd.

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Crossref · 10.1002/uog.81

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  • When the bladder diameter exceeded 15 mm, all examined cases were associated with obstructive uropathy.

    “In contrast, when the diameter exceeded 15 mm, all examined cases were associated with obstructive uropathy [53].”
  • A longitudinal bladder diameter of 7 to 15 mm was associated with an abnormal karyotype in approximately one out of every four cases, but spontaneous resolution occurred in nearly 90% of these cases.

    “Furthermore, the bladder diameter plays a crucial role in determining the fetal outcome: a longitudinal bladder diameter of 7 to 15 mm was associated with an abnormal karyotype in approximately one out of every four cases, but spontaneous resolution occurred in nearly 90% of these cases [53].”

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Authors
Liao, A. W., Sebire, N. J., Geerts, L., Cicero, S., & Nicolaides, K. H.
Affiliations
Harris Birthright Research Centre for Fetal Medicine (GB)
Corresponding author
Nicolaides, K. H.
Venue
Ultrasound in Obstetrics & Gynecology
Publisher
Wiley
Published
2003-04
Volume
21
Issue
4
Pages
338-341
ISSN
  • 0960-7692 (ISSN-L)
  • 1469-0705
OpenAlex
W1991423355
Cited by
193
References
19
Citations by year
2026: 3 · 2025: 10 · 2024: 6 · 2023: 10 · 2022: 8 · 2021: 12 · 2020: 11 · 2019: 3 · 2018: 10 · 2017: 12 · 2016: 12 · 2015: 10 · 2014: 15 · 2013: 4 · 2012: 9
FWCI
6.61
Type
journal article
Language
en
Open access
Locations
  • Ultrasound in Obstetrics and Gynecology (publishedVersion)
  • PubMed (publishedVersion)
  • UCL Discovery (University College London) (submittedVersion)
  • Research Portal (King's College London) (submittedVersion)
Funders
Fetal Medicine Foundation
Topics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
  • Health Sciences › Medicine › Surgery › Congenital Anomalies and Fetal Surgery
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Pediatric Urology and Nephrology Studies
Keywords
fetal megacystis, chromosomal abnormalities, trisomy 13, trisomy 18, Down syndrome, nuchal translucency, pregnancy outcomes, spontaneous resolution, urinary tract obstruction, prenatal diagnosis
MeSH terms
Adult, Urinary Bladder, Chromosome Aberrations, Female, Humans, Karyotyping, Longitudinal Studies, Male, Middle Aged, Neck, Pregnancy, Pregnancy Outcome, Pregnancy Trimester, First, Risk Factors, Trisomy, Ultrasonography, Prenatal

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