Twin Reversed Arterial Perfusion Sequence: Prenatal Diagnosis and Treatment
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Abstract Twin reversed arterial perfusion sequence, a severe and unique complication of monochorionic multiple pregnancy, is characterized by vascular anastomosis and abnormal or absent cardiac development in the twins. This article reviewed its pathogenesis, prenatal ultrasound diagnosis, and management. The pump twin’s chances for survival can be maximized by proper management. The optimal timing of the interventions remains a debate, although the latest studies encourage early intervention, i.e., in the first trimester. The most preferred approach is to interrupt the vascular supply to the acardius, such as through ultrasound-guided laser coagulation and radiofrequency ablation of the intrafetal vessels.Keywords:
Fetoscopy
Arterial perfusion
DNA polymorphisms are normal inherited variations in DNA that can often be used to document the inheritance of genes that produce disease. In this report we summarize our experience with prenatal diagnosis in 95 pregnancies in which the fetus was at risk for a hemoglobinopathy; the diagnosis was performed with use of DNA polymorphisms located so near the β-globin gene that they are inherited along with that gene. Of the 95 pregnancies, 57 involved fetuses at risk for sickle-cell anemia, 32 fetuses at risk for β-thalassemia, and 6 fetuses at risk for other β-chain hemoglobinopathies. Diagnosis was achieved solely by analysis of DNA polymorphisms in cells recovered by amniocentesis in 82 cases (86 per cent) and was completed by fetoscopy and fetal-blood study in an additional 6 cases (6 per cent). Prenatal diagnosis was proved correct in all 78 cases that have been available for confirmation to date. Our experience demonstrates that DNA polymorphisms can be useful for the prenatal diagnosis of genetic diseases in which the basic defect cannot be directly detected. (N Engl J Med 1983; 308:1054–8.)
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In this issue of the Journal Mahoney et al. report the diagnosis of Duchenne's muscular dystrophy with use of fetal plasma obtained during fetoscopy. This advance is notable because it adds to the growing list of genetic disorders amenable to prenatal diagnosis and further illustrates the use of fetoscopy and fetal-blood sampling. It also typifies the collaborative effort required for the development of methods for prenatal diagnosis and the complicated nature of such investigations.Prenatal genetic diagnosis is unusual in clinical medicine in that critical decisions are based on laboratory diagnosis without physical examination of the patient. Fetoscopy offers the . . .
Fetoscopy
Genetic diagnosis
Chorionic villus sampling
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Technical advances continue to expand the number of genetic disorders that can be diagnosed in utero. The current methods for prenatal diagnosis are as follows: Amniocentesis, fetoscopy, fetal blood sampling, biopsy of fetal skin, and chorionic villus sampling (CVS). The method for growing fetal cells obtained by amniocentesis in short term culture and karyotyping has opened a new area to chromosomal anomalies. By using cultured amniotic fluid cells in larger numbers, it is also possible to diagnose many metabolic disorders. Fetoscopy has been developed which permits the perinatologist to enter the uterus and obtain tissue sample or to actually view the fetus. However, it is very difficult to visualize the fetus directly through fetoscope. Only specific parts of the fetus can be readily identified, but a total examination of surface anatomy is rarely possible. Now ultrasonography with improved resolution can clearly define many major anatomical abnormalities without apparent risk. And also, fetal blood sampling and skin biopsy have been successfully performed under ultrasound guidance rather than under direct fetoscopic visualization. Recently, the advent of fetal blood sampling has made it possible to diagnose genetic disorders which have hitherto been impossible to recognize in the fetus. The main applications are for the prenatal diagnosis of the fetal infection, coagulopathies, hemoglobinopathies, and muscular dystrophies. Several severe genodermatoses result in early death or are associated with significant morbidity. Some of these disorders can be diagnosed in utero with skin biopsies. Harlequin Ichthyosis is a typical case. A positive prenatal diagnosis of Harlequin Ichthyosis was reported.(ABSTRACT TRUNCATED AT 250 WORDS)
Fetoscopy
Amniocentesis
Chorionic villus sampling
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Amniocentesis
Fetoscopy
Advanced maternal age
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Abstract We describe molecular prenatal diagnosis and carrier detection of tyrosinase‐negative oculocutaneous albinism (OCA1A) in two families. In one family, we carried out DNA‐based prenatal diagnosis of OCA1A. In the other family, mutation analysis and carrier detection obviated the need for prenatal diagnosis. Molecular analysis is safer and probably more accurate than fetoscopy and fetal scalp biopsy, and should become the method of first choice for prenatal diagnosis of OCA1.
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Oculocutaneous albinism
Chorionic villi
Chorionic villus sampling
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In the past decade dramatic developments have taken place in antenatal diagnosis. Various techniques are now fully established as routine procedures and these are applicable to several categories of genetic diseases. Transabdominal amniocentesis is currently the most important method for the prenatal diagnosis of chromosomal conditions, neural tube defects and biochemical disorders. Ultrasonography is playing an increasingly important role in the detection of malformations, while fetoscopy is now employed for fetal blood sampling, biopsy and visualization. Recombinant DNA techniques hold great promise for the intra-uterine diagnosis of common and important disorders in which the fundamental defect is unknown.
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Amniocentesis
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Fetoscopy
Chorionic villus sampling
Blood sampling
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Fetoscopy
Hemoglobinopathy
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Amniocentesis
Fetoscopy
Cell-free fetal DNA
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An increasing number of genetic diseases are becoming more clearly understood from a pathophysiologic standpoint. Specific biochemical or gene defects are known for many such disorders. These principles are being applied to genetic skin diseases and, as with genetic disease in general, are enabling more conclusive approaches to their prenatal diagnosis. Although fetoscopy is used primarily for the prenatal diagnosis of skin disease, with advances in genetic and molecular biologic techniques, chorionic villus sampling, amniocentesis, and newer methods of ultrasonography can also be used.
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Amniocentesis
Chorionic villus sampling
Genetic diagnosis
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