First-trimester non-invasive prenatal diagnosis of triploidy
نویسندگان
چکیده
منابع مشابه
Invasive or non-invasive prenatal genetic diagnosis?
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...
متن کاملGenetic Counseling and Prenatal Diagnosis of Triploidy During the Second Trimester of Pregnancy
INTRODUCTION Triploidy is a lethal chromosomal numeric abnormality, characterized on extra haploid set of chromosomes. It occurs in 2 to 3% of conceptuses and accounts for approximately 20% of chromosomally abnormal first-trimester miscarriages. As such, triploidy is estimated to occur in 1 of 3,500 pregnancies at 12 weeks', 1 in 30,000 at 16 weeks', and 1 in 250,000 at 20 weeks' gestation. C...
متن کاملLate first-trimester invasive prenatal diagnosis: results of an international randomized trial.
OBJECTIVE To assess, in a randomized trial, the safety and accuracy of amniocentesis and transabdominal chorionic villus sampling (CVS) performed at 11-14 weeks of gestation, given that this time frame is increasingly relevant to early trisomy screening. METHODS We compared amniocentesis with CVS from 77 to 104 days of gestation in a randomized trial in a predominantly advanced maternal age p...
متن کاملNon-Invasive Prenatal Testing of Trisomy 18 by an Epigenetic Marker in First Trimester Maternal Plasma
BACKGROUND Quantification of cell-free fetal DNA by methylation-based DNA discrimination has been used in non-invasive prenatal testing of fetal chromosomal aneuploidy. The maspin (Serpin peptidase inhibitor, clade B (ovalbumin), member 5; SERPINB5) gene, located on chromosome 18q21.33, is hypomethylated in the placenta and completely methylated in maternal blood cells. The objective of this st...
متن کاملFirst trimester prenatal diagnosis of Menkes disease by DNA analysis.
Menkes disease is an X linked recessive disorder of copper metabolism characterised by neurological symptoms and connective tissue manifestations. The defective gene in Menkes disease has recently been isolated and the gene product is predicted to be a copper transporting ATPase. The diagnosis of Menkes disease has hitherto been performed by biochemical analysis, based on intracellular accumula...
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ژورنال
عنوان ژورنال: Prenatal Diagnosis
سال: 1999
ISSN: 0197-3851,1097-0223
DOI: 10.1002/(sici)1097-0223(199902)19:2<175::aid-pd524>3.0.co;2-4