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Prenatal diagnosis and clinical significance of cephalocele—A single institution experience and literature review
Author(s) -
Dąbkowska Sylwia,
KucińskaChahwan Anna,
Beneturska Anna,
Ilnicka Alicja,
Nowakowska Beata,
Panek Grzegorz,
Roszkowski Tomasz,
Bijok Julia
Publication year - 2020
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5654
Subject(s) - medicine , fetus , prenatal diagnosis , encephalocele , obstetrics , trisomy , pregnancy , pediatrics , genetic testing , retrospective cohort study , surgery , biology , genetics
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.