The 11–13-week scan: diagnosis and outcome of holoprosencephaly, exomphalos and megacystis
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OBJECTIVE: To determine the prevalence and outcome of fetuses with holoprosencephaly, exomphalos and megacystis diagnosed at 11-13 weeks of gestation. METHODS: As part of a prospective screening study for trisomy 21 in singleton pregnancies at 11 + 0 to 13 + 6 weeks' gestation, transabdominal ultrasound examination was performed to diagnose holoprosencephaly, exomphalos and megacystis. Fetal karyotype and pregnancy outcome in fetuses with these defects were examined. RESULTS: Screening was carried out in 57 119 pregnancies. The prevalence of holoprosencephaly, exomphalos and megacystis was 1 : 1298, 1 : 381 and 1 : 1632, respectively. Chromosomal abnormalities, mainly trisomies 18 and 13, were found in 65.9% of fetuses with holoprosencephaly, in 55.3% with exomphalos and in 31.4% with megacystis. There was spontaneous resolution of the defect by 20 weeks in 92.5% of euploid fetuses with exomphalos containing only bowel and in 90% of the euploid fetuses with megacystis and bladder length of < or = 15 mm. CONCLUSIONS: A high proportion of fetuses with holoprosencephaly, exomphalos and megacystis diagnosed at 11-13 weeks of gestation are aneuploid, but in the majority of cases exomphalos and megacystis represent temporary abnormalities that resolve spontaneously.
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The prevalence of megacystis was 1 in 1632, with a chromosomal abnormality detected in 31.4% of affected cases.
“Moreover, results from a prospective study involving nearly 60,000 women showed that the prevalence of megacystis was 1 in 1632, with a chromosomal abnormality detected in 31.4% of affected cases [52].”
From First-Trimester Ultrasound: A Comparative Review of Guidelines (2026) · cites this paper as [52]
Other ultrasound findings suggestive of TS include left-sided cardiac anomalies, partial anomalous pulmonary venous return/connection and persistent left superior vena cava, renal anomalies, small omphalocele, short femur and fetal growth restriction.
“Other ultrasound findings suggestive of TS include left-sided cardiac anomalies, partial anomalous pulmonary venous return/connection and persistent left superior vena cava, renal anomalies, small omphalocele, short femur and fetal growth restriction.45,50-54”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [54]
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First-Trimester Ultrasound: A Comparative Review of Guidelines
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Normal First Trimester of Pregnancy
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- Authors
- Kagan, K. O., Staboulidou, I., Syngelaki, A., Cruz, J., & Nicolaides, K. H.
- Affiliations
- Harris Birthright Research Centre for Fetal Medicine (GB)
- University College Hospital (GB)
- Corresponding author
- Nicolaides, K. H.
- Venue
- Ultrasound in Obstetrics & Gynecology
- Publisher
- Wiley
- Published
- 2010-06-24
- Volume
- 36
- Issue
- 1
- Pages
- 10-14
- ISSN
- 0960-7692 (ISSN-L)
- 1469-0705
- OpenAlex
- W1977475819
- Cited by
- 108
- References
- 19
- Citations by year
- 2026: 2 · 2025: 6 · 2024: 3 · 2023: 8 · 2022: 4 · 2021: 8 · 2020: 8 · 2019: 4 · 2018: 7 · 2017: 6 · 2016: 9 · 2015: 10 · 2014: 7 · 2013: 10 · 2012: 10
- FWCI
- 7.53
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- 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 (1 037 116)
- 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 › Fetal and Pediatric Neurological Disorders
- Keywords
- holoprosencephaly, omphalocele, megacystis, first-trimester ultrasound screening, Down syndrome, fetal aneuploidy, trisomy 18, trisomy 13, spontaneous resolution, fetal karyotype, pregnancy outcomes, prevalence
- MeSH terms
- Adolescent, Adult, Urinary Bladder, Down Syndrome, Female, Gestational Age, Hernia, Umbilical, Humans, Middle Aged, Pregnancy, Pregnancy Outcome, Pregnancy Trimester, First, Remission, Spontaneous, Prevalence, Holoprosencephaly, Ultrasonography, Prenatal, Young Adult
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