At midpregnancy, sonographic markers can effectively differentiate normal pregnancies from those with fetal hemoglobin Bart disease. Among couples at risk with no sonographic markers, the risk of having an affected child is nearly eliminated. The most sensitive marker was the cardiothoracic ratio, followed by placental thickness.

No abstract

Prenatal diagnosis of severe thalassaemia is conventionally diagnosed by fetal DNA analysis but it can not be widely used due to its drawbacks of high cost and technical effort. This prospective study describes a new prenatal strategy in preventing severe thalassaemia by a more simple and inexpensive way. The strategy included: (1) genetic counselling; (2) identification of pregnancies at risk by retrospective screening (history of known risk) and prospective screening for asymptomatic women; (3) cordocentesis at 16-22 weeks' gestation; (4) fetal blood analysis with high performance liquid chromatography (HPLC); (5) termination of affected pregnancy. The prospective screening consisted of 2 min osmotic fragility (OF) and HbE screening test in women with no risk, and testing the husbands of the women with a positive result. If both of the couple had a positive result, the diagnostic test (HbA(2) level and PCR alpha-thal 1) for the carrier was needed. A pregnancy in which both of the couple were carriers was considered at risk. This strategy identified 181 and 108 couples at risk by prospective (from 7954 pregnancies) and retrospective screening, respectively. Two hundred and forty-two underwent cordocentesis, 108 from retrospective screening and 134 from prospective screening, and 62 were proven to have severe thalassaemia (29 and 33 in retrospective and prospective screening, respectively). The strategy identified nearly all, if not all, fetuses with severe thalassaemia without false positives among the screened couples. In conclusion, the strategy proves to be highly effective in the control of severe thalassaemia.

The objective of this study was to assess the safety and efficacy of diagnostic cordocentesis at midpregnancy. 1,320 singleton pregnancies with no obvious congenital anomalies, a gestational age of 16-24 weeks, and proper indications underwent cordocentesis using the freehand technique. The results of each procedure was prospectively collected and subsequently analysed for the results and pregnancy outcomes. The mean maternal age was 31.1 years and the mean gestational age at the time of cordocentesis was 19.8 weeks. The most common indication was the risk of severe thalassaemia syndrome (69.8%) and was followed by rapid karyotyping. Of 1,320 cordocenteses, 1,281 (97%) were done successfully at the first attempt. The mean duration of the procedure was 10.5 min and was significantly longer in the first 50 cases of practice for each operator. The maternal blood contamination rate was higher when the cord insertion was targeted. The procedure-related complications included transient bleeding at puncture site (20.2%), transient fetal bradycardia (4. 3%), chorioamnionitis (two cases), and cord haematoma (one case). Of 1,281 successful cases, 184 fetuses had severe disease. The total fetal loss rate was 3.2% and the procedure-related loss was 1%. The other obstetric complications were comparable with those in the general population. We conclude that cordocentesis at midpregnancy is a useful, relatively safe, and effective procedure for prenatal diagnosis.

Chorioangioma is a vascular tumor of the placenta. Most are small and asymptomatic, whereas the large tumors are clinically significant and often associated with polyhydramnios and fetal heart failure. To prevent fetal loss from these complications, many interventions have been proposed, including intrauterine transfusion in anemic cases and fetoscopic surgery to ablate the feeding vessels. The case presented herein had large chorioangiomas, 8 and 4cm in diameter, associated with polyhydramnios and early signs of hydrops fetalis, diagnosed at 27 weeks gestation. After extensive counseling, we performed alcohol ablation of the feeding vessel of the larger tumor. Signs of fetal heart failure and hydrops fetalis disappeared dramatically. The pregnancy was extended for 2 weeks, followed by premature rupture of the membranes and spontaneous labor at 32 weeks gestation and a surviving female baby, weighing 1360g, was delivered uneventfully. This preliminary experience suggests that alcoholization may be one of the best choices for this condition due to its high efficacy, simplicity, safety and very low cost. To our knowledge, this is the first report using alcoholization for the treatment of hydrops fetalis secondary to chorioangioma.