title: Increased nuchal translucency thickness in a fetus at risk for beta-thalassaemia.
abstract: In Greece and other Mediterranean countries up to 10% of the population are carriers of beta-thalassaemia and this is the most common indication for chorion villus sampling (CVS): Cytogenetic analysis of the samples is not carried out routinely, but is confined only to women aged 35 years or more. In this report we present a case that illustrates how the measurement of fetal nuchal translucency may be useful in selecting the cases where in addition to the DNA analysis for beta-thalassaemia the samples can be tested for chromosomal defects.
authors.affiliation: Department of Obstetrics and Gynaecology, University of Ioannina, Greece.
authors.forename: G
authors.initials: G
authors.lastname: Makrydimas
authors.forename: I
authors.initials: I
authors.lastname: Georgiou
authors.forename: M
authors.initials: M
authors.lastname: Syrrou
authors.forename: C
authors.initials: C
authors.lastname: Skendou
authors.forename: D
authors.initials: D
authors.lastname: Lolis
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling; D002887:Chromosomes, Human, Pair 18; D004247:DNA / Q000032:analysis; D005260:Female; D006115:Greece; D006801:Humans; D009333:Neck / Q000000981:diagnostic imaging*; D011247:Pregnancy; D012307:Risk Factors; D014314:Trisomy; D016216:Ultrasonography, Prenatal; D017086:beta-Thalassemia / Q000000981:diagnostic imaging* / Q000235:genetics
chemical_list: D004247:DNA