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[Prenatal diagnosis of hemoglobinopathies and thalassemias].

Abstract：

BACKGROUND AND OBJECTIVE:Thalassemias are the most common single-gene disorders in the world population and the most important health problem in several countries. The best program of prevention of new births is prenatal diagnosis. Here we gather the experience from 1996 of the Spanish Group of Erythropathology related to the prenatal diagnosis of hemoglobinopathies in Spain. SUBJECT AND METHOD:36 couples carriers of beta-thalassemia or Hb S were studied. Fetal material was obtained by amniocentesis and BCV. The genotype was determined by molecular biology technologies. RESULTS:We observed 3 spontaneous abortions (8.3%), 6 interruptions of pregnancy (16.7%) and a case of maternal contamination (2.8%). Prenatal diagnosis could be completed in 97.2% of the cases (35). CONCLUSIONS:In our experience, with regards to hemoglobinopathies, it is essential to provide a good genetic advice in order to identify the molecular alteration in the progenitors before the first pregnancy. This would allow a prenatal diagnosis during the first quarter and, in case of a positive result, to perform an early interruption of the pregnancy without risks.

journal_name

Med Clin (Barc)

journal_title

Medicina clinica

authors

Ropero P,González FA,Hernández A,Sánchez H,Cela E,Villegas A

doi

10.1016/j.medcli.2008.09.012

subject

Has Abstract

pub_date

2009-01-24 00:00:00

pages

53-6

issue

2

eissn

0025-7753

issn

1578-8989

pii

S0025-7753(08)00038-9

journal_volume

132

pub_type

杂志文章

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