Prenatal diagnosis
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Clinical Trial Controlled Clinical Trial
First-trimester urine free beta hCG, beta core, and total oestriol in pregnancies affected by Down's syndrome: implications for first-trimester screening with nuchal translucency and serum free beta hCG.
We have examined maternal urine concentrations of beta core, free beta human chorionic gonadotrophin (hCG), and total oestriol in 373 control pregnancies and 43 pregnancies affected by aneuploidy (including 22 cases of Down's syndrome) in an attempt to see if any of the analytes have a value in Down's syndrome screening between the tenth and 14th week of pregnancy. We have compared the performance of these analytes against nuchal translucency measurement combined with maternal serum free beta hCG at the same period of pregnancy. Our results show that levels of urine free beta hCG and beta core are increased in Down's syndrome with average multiple of the median levels of 1.81 and 2.91, respectively. ⋯ In combination with nuchal translucency, urine total oestriol added an extra 1 per cent detection, urine beta core an extra 2 per cent, urine free beta hCG an extra 3 per cent, and serum free beta hCG an extra 5 per cent. It is unlikely that any of the urine markers will be of value in first-trimester screening. Optimal first-trimester screening programmes will rely for the foreseeable future on nuchal translucency, serum free beta hCG, and possibly pregnancy-associated plasma protein A.
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Current laboratory diagnosis for glycogen storage disease type 1a (GSD 1a) is established by functional enzyme assay to demonstrate the deficiency of glucose-6-phosphate phosphatase (G6Pase). This procedure requires liver biopsy and is impractical for routine prenatal diagnosis owing to the high morbidity of fetal liver biopsy. The accuracy of test results is dependent on the stability of the enzyme during specimen collection, shipment, and storage. ⋯ The turnaround time of this test can be as short as 48 h. A fetus was found to be a carrier using the ASO method and this was confirmed after birth. To our knowledge, this is the first GSD 1a prenatal case diagnosed by a DNA molecular method.
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Comparative Study
The efficacy of flecainide versus digoxin in the management of fetal supraventricular tachycardia.
Fetal supraventricular tachycardia (SVT) can be successfully treated transplacentally, but in cases where fetal hydrops develops there is considerable morbidity and mortality. The present study was carried out to establish whether the introduction of flecainide altered obstetric management and fetal outcome. A retrospective analysis took place of 51 singleton pregnancies which were referred to the division of prenatal diagnosis because of fetal tachycardia between 1982 and 1993. ⋯ No adverse effects were seen. Postnatal anti-arrhythmic treatment was necessary in 23 infants. Treatment could be withdrawn within one year in all cases but one.
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A case of in utero closure of the ductus arteriosus was detected by Doppler echocardiography at 31 weeks of gestation. It presented as a non-hydropic distressed fetus with ultrasound detection of tricuspid regurgitation. Pulsed Doppler ultrasound showed markedly decreased blood flow through the tricuspid and pulmonary valves and absent blood flow at the ductus arteriosus. These, as well as the resultant increased right-to-left shunting across the foramen ovale, were reaffirmed by colour flow mapping.
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Comparative Study
Attitudes toward abortion for fetal anomaly in the second vs. the third trimester: a survey of Parisian obstetricians.
Cross-cultural differences exist in prenatal diagnosis and abortion for fetal anomaly, stemming from variations in laws, reimbursement policies, litigation, physicians' decision-making authority, and attitudes toward the prevention of handicaps. The first part of this paper discusses such differences in France and the U. S. ⋯ Such permissive abortion attitudes might imply more permissive prenatal diagnosis and abortion practice among Parisian obstetricians, which might lead to increased migration of patients from other E. C. countries. Cross-cultural variation in obstetric practice suggests that an international registry of pregnancies terminated for medical reasons, enabling further study of this issue, would be valuable.