Human prenatal diagnosis

Filkins, K; Russo, R J

Title: Human prenatal diagnosis

Full Record
Other Related Research

Abstract

The multiauthor text is written as a ''guide to rationalize and clarify certain aspects of diagnosis, general counseling and intervention'' for ''health professionals who provide care to pregnant women.'' The text is not aimed at the ultrasonographer but rather at the physicians who are clinically responsible for patient management. Chapters of relevance to radiologists include an overview of prenatal screening and counseling, diagnosis of neural tube defects, ultrasonographic (US) scanning of fetal disorders in the first and second trimesters of pregnancy, US scanning in the third trimester, multiple gestation and selective termination, fetal echo and Doppler studies, and fetal therapy. Also included are overviews of virtually all currently utilized prenatal diagnostic techniques including amniocentesis, fetal blood sampling, fetoscopy, recombinant DNA detection of hemoglobinopathies, chorionic villus sampling, embryoscopy, legal issues, and diagnosis of Mendelian disorders by DNA analysis.

Authors:: Filkins, K; Russo, R J

Publication Date:: Tue Jan 01 00:00:00 EST 1985

OSTI Identifier:: 6718917

Resource Type:: Book

Country of Publication:: United States

Language:: English

Subject:: 62 RADIOLOGY AND NUCLEAR MEDICINE; CONGENITAL MALFORMATIONS; DIAGNOSIS; FETUSES; PREGNANCY; ULTRASONOGRAPHY; DIAGNOSTIC TECHNIQUES; DISEASES; GYNECOLOGY; IMAGES; SAMPLING; WOMEN; ANIMALS; FEMALES; MALFORMATIONS; MAMMALS; MAN; MEDICINE; PATHOLOGICAL CHANGES; PRIMATES; VERTEBRATES; 550602* - Medicine- External Radiation in Diagnostics- (1980-)

Citation Formats


                    Filkins, K, and Russo, R J. Human prenatal diagnosis.  United States: N. p., 1985. 
        Web.

Copy to clipboard


                    Filkins, K, & Russo, R J. Human prenatal diagnosis.  United States.

Copy to clipboard


                    Filkins, K, and Russo, R J. 1985.  
        "Human prenatal diagnosis".  United States.

Copy to clipboard


                    
@article{osti_6718917,

  title        = {Human prenatal diagnosis},

  author       = {Filkins, K and Russo, R J},

  abstractNote = {The multiauthor text is written as a ''guide to rationalize and clarify certain aspects of diagnosis, general counseling and intervention'' for ''health professionals who provide care to pregnant women.'' The text is not aimed at the ultrasonographer but rather at the physicians who are clinically responsible for patient management. Chapters of relevance to radiologists include an overview of prenatal screening and counseling, diagnosis of neural tube defects, ultrasonographic (US) scanning of fetal disorders in the first and second trimesters of pregnancy, US scanning in the third trimester, multiple gestation and selective termination, fetal echo and Doppler studies, and fetal therapy. Also included are overviews of virtually all currently utilized prenatal diagnostic techniques including amniocentesis, fetal blood sampling, fetoscopy, recombinant DNA detection of hemoglobinopathies, chorionic villus sampling, embryoscopy, legal issues, and diagnosis of Mendelian disorders by DNA analysis.},

  doi          = {},

  url          = {https://www.osti.gov/biblio/6718917},
  journal      = {},
number       = ,

  volume       = ,

  place        = {United States},

  year         = {Tue Jan 01 00:00:00 EST 1985},

  month        = {Tue Jan 01 00:00:00 EST 1985}

}

Copy to clipboard

Book:

Other availability

Please see Document Availability for additional information on obtaining the full-text document. Library patrons may search WorldCat to identify libraries that hold this book.

Save / Share:

Export Metadata

Save to My Library

Similar records in OSTI.GOV collections:

Human prenatal diagnosis

Book Filkins, K; Russo, J

Advances in the field of prenatal diagnosis have been rapid during the past decade. Moreover, liberal use of birth control methods and restriction of family size have placed greater emphasis on optimum outcome of each pregnancy. There are many prenatal diagnostic techniques of proven value; the risks, including false negatives and false positives, are known. With the rapid proliferation of new and experimental techniques, many disorders are potential diagnosable or even treatable; however, risk factors are unknown and issues relating to quality control have not been resolved. These problems are readily appreciated in the dramatic new techniques involving recombinant DNA,more »« less
Chromosomal mosaicism of extraembryonic cells detected by prenatal diagnosis

Journal Article Zolotukhina, T; Shilova, N - Russian Journal of Genetics

Data on detection of chromosomal mosaicism in amniotic cells and chorionic villi obtained by prenatal cytogenetic diagnosis are presented. The frequency of chromosomal mosaicism in preparations of amniotic fluid cell culture was 2.6% (6 out of 226), and that in {open_quotes}direct{close_quotes} villus preparations was 1.6% (13 out of 774). The necessity to perform an additional analysis of other fetal cells or neonatal lymphocytes to specify the diagnosis was shown. The analysis of the outcome of pregnancies during which chromosomal mosaicism in the extraembryonic cells was detected indicates that these women form a high-risk group, both genetically and obstetrically; in onlymore »« less
A homozygous nonsense mutation in the {alpha}3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: Prenatal exclusion in a fetus at risk

Journal Article McGrath, J; Ciatti, S; Christiano, A - Genomics

Mutations in the three genes (LAMA3, LAMB3, and LAMC2) that encode the three chains ({alpha}3, {Beta}3, and {gamma}2, respectively) of laminin 5, a protein involved in epidermal-dermal adhesion, have been established as the genetic basis for the inherited blistering skin disorder, Herlitz junctional epidermolysis bullosa (H-JEB). In this study, we performed mutational analysis on genomic DNA from a child with H-JEB and identified a nonsense mutation in the {alpha}3 chain gene (LAMA3) consisting of a homozygous C-to-T transition resulting in a premature termination codon (CGA {r_arrow} TGA) on both alleles. The parents were shown to be heterozygous carriers of themore »« less
https://doi.org/10.1006/geno.1995.1246
Trisomy 7 CVS mosaicism: Pregnancy outcome, placental and DNA analysis in 14 cases

Journal Article Kalousek, D; Langlois, S; Robinson, W - American Journal of Medical Genetics

Prenatal diagnosis by chorionic villus sampling (CVS) documents placental chromosomal mosaicism in approximately 2% of viable pregnancies at 9-12 weeks of gestation and can involve various chromosomes and placental cell lineages. Confined placental mosaicism (CPM) is the result of postzygotic mitotic errors occurring in either diploid or trisomic zygotes. With trisomic zygote rescue, depending on the parental origin of the chromosome which is lost, uniparental disomy (UPD) or biparental disomy (BPD) may arise. In this paper, we present 14 pregnancies which were diagnosed by CVS as mosaic trisomy 7. All follow-up amniocenteses showed a normal diploid karyotype. Using both classicalmore »« less
https://doi.org/10.1002/(SICI)1096-8628(19961111)65:4<348::AID-AJMG19>3.3.CO;2-A
Trisomy 15 mosaic derived from trisomic conceptus: Report of a case and a review

Journal Article Markovic, V; Chodakowski, B; Chitayat, D - American Journal of Medical Genetics

We report on a fetus with 47,XX,+15 chromosome abnormality detected on chorionic villus sampling (CVS). The pregnancy was terminated at 15.5 weeks of gestation and chromosome analysis done on aminocytes and fetal tissues showed a karyotype 46,XX/47,XX,+15. Autopsy showed multiple abnormalities. Short-arm polymorphisms of the three number 15 chromosomes were highly informative in the delineation of parental origin and the stage of meiotic error. Using fluorescent in situ hybridization (FISH) with D15Z1 and a chromosome 15 painting probe, in addition to DA/DAPI and G-banding, we were able to show that the trisomic conceptus was derived through maternal meiosis I error.more »« less
https://doi.org/10.1002/(SICI)1096-8628(19960202)61:4<363::AID-AJMG11>3.3.CO;2-Q

Similar Records