Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.
Prenat Diagn
; 40(5): 612-617, 2020 04.
Article
in En
| MEDLINE
| ID: mdl-32003477
OBJECTIVES: To determine the frequency of genetic and additional structural abnormalities as well as pregnancy outcomes in fetuses with prenatally diagnosed cephalocele. METHODS: A retrospective analysis of data retrieved from ultrasound examinations and genetic testing in fetuses with cephalocele diagnosed between 2006 and 2018 in a tertiary referral hospital along with a systematic literature search in the PubMed database on fetuses with prenatally diagnosed cephalocele. RESULTS: Twenty-one out of 36 fetuses were found to have additional structural anomalies (58.3%). In four fetuses, anomalies were consistent with limb-body wall complex, in five with Meckel-Gruber syndrome, and in one with amniotic band syndrome. Genetic abnormalities were present in 11.1% of fetuses (trisomy 6; microdeletion 22q11.21; microduplication 16p13.11; pathogenic variant in gene CC2D2A). Twenty-eight pregnancies were terminated (77.8%; 28/36); two were miscarried (5.6%; 2/36). All six children from pregnancies that continued were liveborn but only two survived the surgery and developed neurological sequence. Overall survival rate was 25% (2/8) with 0% intact survival. CONCLUSIONS: Additional structural anomalies are common in fetuses with cephalocele. A significant number of fetuses have genetic abnormalities, and a detailed genetic testing should be performed in all cases. The prognosis is poor with high mortality rate and 0% intact survival.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Trisomy
/
Abnormalities, Multiple
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Retinitis Pigmentosa
/
Ciliary Motility Disorders
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Encephalocele
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Amniotic Band Syndrome
/
Polycystic Kidney Diseases
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Female
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Humans
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Male
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Newborn
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Pregnancy
Language:
En
Journal:
Prenat Diagn
Year:
2020
Document type:
Article
Affiliation country:
Poland
Country of publication:
United kingdom