title: Prenatal diagnosis of hypoplastic left heart syndrome and trisomy 18 in a fetus with normal nuchal translucency and abnormal ductus venosus blood flow at 13 weeks of gestation.
abstract: We describe a case of early prenatal diagnosis of a major congenital heart anomaly and trisomy 18 in a low-risk pregnant woman. Nuchal translucency (NT) measurement at 13 weeks' gestation was 1.2 mm and Doppler evaluation of the ductus venosus detected a persistent reversed flow during atrial contraction. This finding prompted us to perform fetal echocardiography which showed hypoplastic left heart syndrome. Karyotyping following chorionic villus sampling diagnosed trisomy 18. Review of the recent literature suggests that the finding of an abnormal ductus venosus Doppler pattern in the late first trimester of pregnancy may be an early sign of either congenital cardiac or chromosomal abnormality, even in the presence of normal NT screening.
authors.affiliation: Department of Obstetrics and Gynaecology, ICGON, Hospital Clinic, Barcelona, Spain. 26625jmc@comb.es
authors.forename: J M
authors.initials: JM
authors.lastname: Martínez Crespo
authors.forename: M
authors.initials: M
authors.lastname: Del Río
authors.forename: O
authors.initials: O
authors.lastname: Gómez
authors.forename: A
authors.initials: A
authors.lastname: Borrell
authors.forename: B
authors.initials: B
authors.lastname: Puerto
authors.forename: V
authors.initials: V
authors.lastname: Cararach
authors.forename: A
authors.initials: A
authors.lastname: Fortuny
mesh_terms: D000328:Adult; D001783:Blood Flow Velocity / Q000502:physiology; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D005260:Female; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology; D009333:Neck / Q000000981:diagnostic imaging / Q000196:embryology; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D014314:Trisomy; D016216:Ultrasonography, Prenatal / Q000379:methods