Increased nuchal translucency thickness in a fetus at risk for beta-thalassaemia.
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.
Makrydimas
G
G
Department of Obstetrics and Gynaecology, University of Ioannina, Greece.
Georgiou
I
I
Syrrou
M
M
Skendou
C
C
Lolis
D
D
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
D004247:DNA