A new strategy for prenatal diagnosis of homozygous α<sup>0</sup>‐thalassemia

Leung, Kwok Wa; Liao, Can; Li, Qm M.; Y., Sy; Tang, Mhy; Lee, Cp P.; Chan, Vny; Lam, YH

doi:10.1002/uog.2720

Cited by 52 publications

(78 citation statements)

References 25 publications

(37 reference statements)

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“…Nevertheless, 1–2% potential risk of missed abortion because of the procedure has been reported. Thus, serial 2-dimensional ultrasound, prenatal diagnosis of fetal cells in maternal blood and preimplantation genetic diagnosis have been proposed as options to reduce the risk of miscarriage [19,20]. …”

Section: Discussionmentioning

confidence: 99%

Molecular Characterization of α-Thalassemia in Adana, Turkey: A Single Center Study

et al. 2010

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Background/Aim: α-Thalassemia (α-thal) is a widespread genetic disorder throughout the world caused primarily by reduced synthesis of the α-globin chains, and it has been found at a high incidence in Turkey. Our aim in this study was to determine the frequency and molecular properties of α-thal in Adana, Turkey. Material and Methods: A total of 3,000 individuals comprising premarital couples or patients with anemia were screened between 2007 and 2008. Hematological parameters were analyzed using an automatic cell counter, and to detect the carriers of hemoglobin variants, high-performance liquid chromatography was used. Molecular screening of the α-globin gene was carried out by an Alpha-Globin StripAssay® which is based on multiplex PCR for specific amplification. Results: We have identified 225 cases with α-thal and found that the prevalence of α-thal is 7.5% in this area. In molecular analyses, the α-thal gene mutations α^3.7, α^4.2, --^MED, --^20.5, α^PA-2α, ααα^anti-3.7, and α^PA-1α were detected. Conclusion: Our results showed that the α-thal mutations represent a great heterogeneity and that the -α^3.7 deletion has the highest frequency in Adana.

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Section: Discussionmentioning

confidence: 99%

Molecular Characterization of α-Thalassemia in Adana, Turkey: A Single Center Study

et al. 2010

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“…The mother continued her pregnancy. However, an additional ultrasound examination at 15 weeks because of vaginal spotting identified fetal cardiomegaly (≥ 0.5 at 12-17 weeks) and placentomegaly (> 18 mm at 12-15 weeks) 4 . The cardiothoracic ratio was 0.53 and placental depth was 3.2 cm.…”

Section: Two Cases Of Homozygous α 0 -Thalassemia Diagnosed Prenatallmentioning

confidence: 99%

“…Since invasive prenatal testing is always necessary for these β-thalassemia at-risk pregnancies, simultaneously determining the α-globin genotype of the fetus is a method of choice. Another option is to perform serial ultrasound examinations to exclude an affected pregnancy from 12 weeks of gestation 4 …”

Section: Two Cases Of Homozygous α 0 -Thalassemia Diagnosed Prenatallmentioning

confidence: 99%

“…Since the first reported case in 1978 1 , several case reports and case series have been published 2,3 . Primary surgical treatment has been attempted by laparotomy and hysterotomy, with various degrees of success 4 . Medical treatment with systemic methotrexate (MTX) 5,6 , direct injection of MTX, potassium chloride or hyperosmolar glucose 3,7 , or a combination of treatments, have been described 2 .…”

Section: Ectopic Pregnancy Within a Cesarean Section Scarmentioning

confidence: 99%

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Two cases of homozygous α⁰‐thalassemia diagnosed prenatally in pregnancies at risk for β‐thalassemia in China

Liao

Xie

2007

Ultrasound in Obstet & Gyne

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“…It is therefore essential that prenatal diagnosis and early termination of the pregnancy be recommended. Currently, several sonographic markers may be helpful in predicting fetal Hb Bart’s disease before hydropic changes occur [5,6]. However, the effectiveness of splenic size measurement has never been evaluated.…”

Section: Introductionmentioning

confidence: 99%

Splenic Circumference at Midpregnancy as a Predictor of Hemoglobin Bart’s Disease among Fetuses at Risk

Srisupundit

Tongprasert

Luewan

et al. 2011

Gynecol Obstet Invest

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Objective: To determine the accuracy of splenic circumference in predicting hemoglobin (Hb) Bart’s disease among fetuses at risk at midpregnancy. Materials and Methods: Women with singleton pregnancies with a fetal risk of Hb Bart’s disease were enrolled in the study at 18–22 weeks of gestation. All underwent splenic circumference measurement before cordocentesis for fetal blood analysis. The final diagnosis used as a gold standard was based on fetal Hb typing using high-performance liquid chromatography. Results: Among all the pregnancies, the prevalence of Hb Bart’s disease was 26.1% (87/334 fetuses). Twenty-four fetuses (27.6%) had some degree of hydropic changes. Notably, of these 24, 22 showed splenomegaly as well. When hydropic fetuses were excluded, the sensitivity, specificity, positive predictive value and negative predictive value of splenic circumference in identifying affected fetuses were 68.3, 83.0, 50.6 and 91.1%, respectively. Conclusion: Splenic circumference measurement at midpregnancy may be helpful in distinguishing affected fetuses from those unaffected. Among couples at risk with normal splenic size, the risk of having an affected child is much lower, whereas the enlarged spleen places the pregnancy at a higher risk. This information may help couples decide on invasive diagnosis or a noninvasive approach.

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A new strategy for prenatal diagnosis of homozygous α⁰‐thalassemia

Abstract: Objectives

Cited by 52 publications

References 25 publications

Molecular Characterization of α-Thalassemia in Adana, Turkey: A Single Center Study

Molecular Characterization of α-Thalassemia in Adana, Turkey: A Single Center Study

Two cases of homozygous α⁰‐thalassemia diagnosed prenatally in pregnancies at risk for β‐thalassemia in China

Splenic Circumference at Midpregnancy as a Predictor of Hemoglobin Bart’s Disease among Fetuses at Risk

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A new strategy for prenatal diagnosis of homozygous α0‐thalassemia

Abstract: Objectives

Cited by 52 publications

References 25 publications

Molecular Characterization of α-Thalassemia in Adana, Turkey: A Single Center Study

Molecular Characterization of α-Thalassemia in Adana, Turkey: A Single Center Study

Two cases of homozygous α0‐thalassemia diagnosed prenatally in pregnancies at risk for β‐thalassemia in China

Splenic Circumference at Midpregnancy as a Predictor of Hemoglobin Bart’s Disease among Fetuses at Risk

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A new strategy for prenatal diagnosis of homozygous α⁰‐thalassemia

Two cases of homozygous α⁰‐thalassemia diagnosed prenatally in pregnancies at risk for β‐thalassemia in China