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Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeks.

TitleChallenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeks.
Publication TypeJournal Article
Year of Publication2011
AuthorsSyngelaki, A., Chelemen T., Dagklis T., Allan L., & Nicolaides K. H.
JournalPrenat Diagn
Volume31
Issue1
Pagination90-102
Date Published2011 Jan
ISSN1097-0223
KeywordsAneuploidy, Congenital Abnormalities, Female, Gastroschisis, Gestational Age, Heart Defects, Congenital, Humans, Kidney, Limb Deformities, Congenital, MEDLINE, Musculoskeletal Abnormalities, Nervous System Malformations, Nuchal Translucency Measurement, Pregnancy, Ultrasonography, Prenatal
Abstract

OBJECTIVE: To examine the performance of the 11-13 weeks scan in detecting non-chromosomal abnormalities.METHODS: Prospective first-trimester screening study for aneuploidies, including basic examination of the fetal anatomy, in 45 191 pregnancies. Findings were compared to those at 20-23 weeks and postnatal examination.RESULTS: Aneuploidies (n = 332) were excluded from the analysis. Fetal abnormalities were observed in 488 (1.1%) of the remaining 44 859 cases; 213 (43.6%) of these were detected at 11-13 weeks. The early scan detected all cases of acrania, alobar holoprosencephaly, exomphalos, gastroschisis, megacystis and body stalk anomaly, 77% of absent hand or foot, 50% of diaphragmatic hernia, 50% of lethal skeletal dysplasias, 60% of polydactyly, 34% of major cardiac defects, 5% of facial clefts and 14% of open spina bifida, but none of agenesis of the corpus callosum, cerebellar or vermian hypoplasia, echogenic lung lesions, bowel obstruction, most renal defects or talipes. Nuchal translucency (NT) was above the 95th percentile in 34% of fetuses with major cardiac defects.CONCLUSION: At 11-13 weeks some abnormalities are always detectable, some can never be and others are potentially detectable depending on their association with increased NT, the phenotypic expression of the abnormality with gestation and the objectives set for such a scan.

DOI10.1002/pd.2642
Alternate JournalPrenat Diagn
PubMed ID21210483

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