1005 Prenatal diagnosis of genetic disorders: trends in screening and invasive testing
نویسندگان
چکیده
منابع مشابه
Prenatal diagnosis of genetic disorders.
Three hundred and fifty pregnancies were monitored by transabdominal amniocentesis in the fourteenth to sixteenth week of gestation followed by karyotyping or biochemica assays of cultured amniotic fluid cells and analysis of alpha-fetoprotein in the amniotic fluid supernatant. The pregnancy was interrupted in 36 cases (10%) either becasue of a fetal abnormality or the presence of a male fetus ...
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About 40 years ago, invasive prenatal diagnosis techniques were introduced in obstetrics. Initially, amniocentesis was performed followed by placentacentesis, fetoscopy, fetal blood sampling (FBS), and chorionic villus sampling (CVS). These procedures, while invading the uterine environment, have made it possible to proceed with the retrieval of biological tissue of fetal origin for analysis an...
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Discovery of cell free fetal DNA in 1997 has deeply changed the outlook of prenatal diagnosis approaches as most of the clinically established screening tests are not sensitive/specific enough while the current practical diagnostic tests are also invasive in their nature. The most common prenatal screening test is routinely practiced for the diagnosis of Down syndrome (DS) which includes a 10% ...
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Reprint request: Dr. M.L. Kulkarni, Professor of Pediatrics, 2373, MCC A Block, Davangere 577 004. methods of obtaining fetal tissues for karyotype, DISFA studies and enzyme assay(4). The procedure is done at 8-11 weeks of gestation. The transcervical sampling involves insertion of various types of catheters transcervically under ultrasound guidance for aspiration of chorionic villi. Transabdom...
متن کاملPrenatal Diagnostic Testing for Genetic Disorders
Fetal genetic disorders are abnormalities in structure or function caused by differences in the genome that are distinct from those primarily caused by environmental or other disruptive factors. Increasingly, it is recognized that these distinctions are not always clear. A genetic predisposition may increase a person’s susceptibility to environmental influences, and some genetic abnormalities m...
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ژورنال
عنوان ژورنال: American Journal of Obstetrics and Gynecology
سال: 2021
ISSN: 0002-9378
DOI: 10.1016/j.ajog.2020.12.1030