Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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Target Concepts:
Gene/Protein
Disease
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Query: UMLS:C0039730 (
thalassemia
)
10,305
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Early amnion rupture is a sporadic event that results in mechanical teratogenesis due to amniotic-band disruption and/or compression. It may cause abortion or stillbirth, craniofacial clefts, and cerebral, body wall and limb/skeletal defects. Prolonged and premature rupture of membranes and oligohydramnios result in the dry-lung syndrome and pulmonary hypoplasia. The risk of
chorioamnionitis
is also increased, with serious consequences to the fetus and neonate. Placental lesions are associated with fetal growth retardation, preterm birth, fetal malformations and other neonatal disorders (congenital infections, erythroblastosis, alpha
thalassaemia
). In particular, the impact of extremely preterm births on perinatal mortality rates and health costs is substantial. The 1-year survival rate of singleton infants born at the Monash Medical Centre was 10% at a gestation period of 23 weeks, 37% at 24 weeks, 42% at 25 weeks, 61% at 26 weeks and 78% at 27 weeks (11% at birthweights of 500-599 g, 30% at 600-699 g, 55% at 700-799 g and 71% at 800-899 g). Proven measures to minimize the neonatal consequences of extremely preterm delivery include in utero transfer of at-risk fetuses to a perinatal centre and antepartum corticosteroids. Research into the pathophysiological basis of placental and membrane dysfunction may help reduce the prematurity rate.
...
PMID:Neonatal consequences of placental and membrane dysfunction. 195 32
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.
...
PMID:Cordocentesis at 16-24 weeks of gestation: experience of 1,320 cases. 1071 26