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Prenatal diagnosis · 2020

Exomphalos without other prenatally detected anomalies: Perinatal outcomes from 22 years of population-based data.

Историческая статьяСтатьяНазвание и аннотация: Перевод в очереди
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Grover Rose, Collins Amanda L, Wellesley Diana

Аннотация

OBJECTIVE: To ascertain the perinatal outcomes for an apparently isolated exomphalos detected by prenatal ultrasound.

METHOD: Our dataset captures cases from 614 321 births in the Wessex region of England and the Channel Isles on all cases of pre- or postnatally diagnosed exomphalos from 1994 to 2015. Ascertainment was >95%.

RESULTS: Three hundred and thirty five cases were reported to the register: 28 (8%) were not detected prenatally, 18 (6%) had already died in utero, 169 (55%) cases were found to have additional anomalies on first tertiary ultrasound scan and one case was lost to follow-up. Therefore 119 (39%) cases had an apparently isolated exomphalos. Of the 119 cases with only an exomphalos detected on first tertiary ultrasound scan, 25 (21%) had a chromosome abnormality. Of those with a normal or untested karyotype, 61% were confirmed to be an isolated anomaly after birth, 13% had an additional heart abnormality, 9% had Beckwith-Wiedemann syndrome and 11% had additional problems diagnosed postnatally.

CONCLUSION: Our large population-based dataset with an average of 1 year's postnatal follow-up suggests that more than one-third of apparently isolated prenatal cases of exomphalos will have an additional finding detected after birth. These data should help assist clinicians in their prenatal counseling.

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