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First-trimester combined screening for trisomy 21 in women at risk for α-thalassemia.
- Source :
-
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians [J Matern Fetal Neonatal Med] 2016; Vol. 29 (12), pp. 1949-51. Date of Electronic Publication: 2015 Aug 13. - Publication Year :
- 2016
-
Abstract
- Objective: To report the strategy of first-trimester aneuploidy screening in pregnancies at risk for homozygous α(0)-thalassemian.<br />Methods: Women at risk of homozygous α(0)-thalassemia were given an ultrasound examination at 11-14 weeks' gestation to exclude an affected pregnancy. Fetal cardiothoracic ratio (CTR) and nuchal translucence (NT) were measured. If cardiomegaly was found, chorionic villus sampling (CVS) was offered for α-thalassemia; otherwise the first-trimester combined screening test was performed on the pregnancy. The invasive testing for karyotyping was only followed in those cases with a positive aneuploidy screening test.<br />Results: In total, 69 of 288 pregnancies were found to be affected by homozygous α(0)-thalassemia using ultrasound, and the findings were confirmed by invasive testing. In the remaining 219 pregnancies, invasive testing was not performed for α-thalassemia because of a normal fetal CTR, and the women received the first-trimester combined screening. Nine CVS procedures were performed for karyotyping because of a positive aneuploidy screening. Totally three pregnancies with aneuploidy were diagnosed and terminated.<br />Conclusions: Our strategy can selectively detect aneuploidy pregnancies not affected by homozygous α-thalassemia, and, meanwhile, save on the cost of unnecessary aneuploidy screening or karyotyping in pregnancies with an affected fetus of homozygous α(0)-thalassemia.
Details
- Language :
- English
- ISSN :
- 1476-4954
- Volume :
- 29
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
- Publication Type :
- Academic Journal
- Accession number :
- 26169708
- Full Text :
- https://doi.org/10.3109/14767058.2015.1069812