Advances in Prenatal Diagnosis Social–Psychological and Policy Issues

Chorionic villus sampling (CVS), a new technique for prenatally diagnosing chromosomal and genetic disorders, may soon replace amniocentesis. This procedure, performed by inserting a catheter through the pregnant woman's cervix or through the abdomen and removing cells from the placenta, has the advantages of being available earlier in the pregnancy than amniocentesis (at 9 to 11 weeks gestational age) and of yielding results in a shorter time. Although the medical aspects of the procedure are being investigated, its psychosocial and policy implications have not been studied systematically. These issues include the subjective assessment of risk that prompts women to choose or to reject CVS, the implications of earlier diagnosis for feelings about abortion, the potential of negative findings (i.e., the absence of the designated disorder) for well-being during the remainder of the pregnancy, the ramifications of first trimester identification of fetal sex, equity of access to prenatal diagnosis, and the possible over- utilization of these procedures. Drawing on previous research regarding amniocentesis and more recent research concerning CVS, this article discusses the potential implications of CVS.

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Transvaginal Chorionic Villus Sampling Using Transabdominal Ultrasound Guidance: A New Technique for First-Trimester Prenatal Diagnosis

Fetal Diagnosis and Therapy ◽

10.1159/000263763 ◽

1993 ◽

Vol 8 (2) ◽

pp. 144-148 ◽

Cited By ~ 4

Author(s):

Lee P. Shulman ◽

Joe Leigh Simpson ◽

Sherman Elias ◽

Richard E. Felker ◽

Donald S. Emerson ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Ultrasound Guidance ◽

Chorionic Villus ◽

First Trimester ◽

New Technique ◽

Chorionic Villus Sampling ◽

Transabdominal Ultrasound ◽

A New Technique

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Prenatal diagnosis of glutaryl-CoA dehydrogenase deficiency: Experience using first-trimester chorionic villus sampling

Prenatal Diagnosis ◽

10.1002/pd.1970140503 ◽

1994 ◽

Vol 14 (5) ◽

pp. 333-336 ◽

Cited By ~ 10

Author(s):

Ernst Christensen

Keyword(s):

Prenatal Diagnosis ◽

Dehydrogenase Deficiency ◽

Chorionic Villus ◽

First Trimester ◽

Chorionic Villus Sampling

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Chorionic villus sampling: First trimester prenatal diagnosis

The Indian Journal of Pediatrics ◽

10.1007/bf02748570 ◽

1986 ◽

Vol 53 (6) ◽

pp. 747-759 ◽

Cited By ~ 1

Author(s):

Allan T. Bombard ◽

Joe Leigh Simpson ◽

Sherman Elias ◽

Alice O. Martin

Keyword(s):

Prenatal Diagnosis ◽

Chorionic Villus ◽

First Trimester ◽

Chorionic Villus Sampling

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Characteristics of l-ornithine: 2-oxoacid aminotransferase and potential prenatal diagnosis of gyrate atrophy of the choroid and retina by first trimester chorionic villus sampling

Clinica Chimica Acta ◽

10.1016/s0009-8981(00)00222-9 ◽

2000 ◽

Vol 296 (1-2) ◽

pp. 91-100 ◽

Cited By ~ 5

Author(s):

Wulf Röschinger ◽

Wolf Endres ◽

Yoon S. Shin

Keyword(s):

Prenatal Diagnosis ◽

Chorionic Villus ◽

First Trimester ◽

Chorionic Villus Sampling ◽

Gyrate Atrophy

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Integrating Microarrays into Routine Prenatal Diagnosis: Determinants of Decision Making

Fetal Diagnosis and Therapy ◽

10.1159/000442197 ◽

2016 ◽

Vol 40 (2) ◽

pp. 135-140 ◽

Cited By ~ 2

Author(s):

Marcos Cordoba ◽

Stephanie Andriole ◽

Shara M. Evans ◽

David Britt ◽

Melissa Chu Lam ◽

...

Keyword(s):

Genetic Counseling ◽

Prenatal Diagnosis ◽

Strong Predictor ◽

Demographic Data ◽

Chorionic Villus ◽

First Trimester ◽

Comparative Genomic ◽

Prior History ◽

Chorionic Villus Sampling ◽

Retrospective Case

Objectives: The explosion in genetic technologies, including array comparative genomic hybridization (aCGH), has increased the complexity of genetic counseling. We now offer chorionic villus sampling (CVS) and aCGH to all first-trimester patients, as this allows the prenatal diagnosis of an additional 1% of anomalies not otherwise detectable and can detect genetic copy number variants at a much higher resolution than conventional cytogenetics. Here, we explored some of the determinants of how patients are deciding to use or not use this new technology and evaluate risk-benefit analyses for that decision. Methods: This is a retrospective case-control study of singleton and multiples pregnancies at our center. Those having aCGH testing along with CVS were defined as ‘testers' and those who declined aCGH but had the CVS were ‘nontesters'. Results: Demographic data of 181 educated women who chose CVS were compared. Among those carrying singletons (n = 144), older women, defined as over 35 years of age (or ‘advanced maternal age'; AMA), were more likely to choose the aCGH than younger women. Further, women who had a prior history of genetic testing and who wanted to know the gender of the fetus were more likely to choose the aCGH test. In women carrying multiples (n = 37), AMA ceases to be a predictor of choice. Having had prior genetic counseling remains a strong predictor for choosing aCGH, as does wanting to know the gender of the fetus. Neither prior abortions nor having prior children were significant for women carrying singletons or multiples. Conclusion: Offering pregnant couples an individualized choice regarding aCGH seems an appropriate approach. There are discrete patterns associated with the choice of taking the aCGH that varied depending on whether the patient was carrying a singleton or multiples.

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Chorionic villus samplingElias S, Simpson J, Martin A, et al: Chorionic villus sampling for first-trimester prenatal diagnosis: Northwestern University program. Am J Obstet Gynecol 152:204, 1985

Journal of Nurse-Midwifery ◽

10.1016/0091-2182(85)90178-8 ◽

1985 ◽

Vol 30 (6) ◽

pp. 349-350

Keyword(s):

Prenatal Diagnosis ◽

Obstet Gynecol ◽

Chorionic Villus ◽

First Trimester ◽

Chorionic Villus Sampling ◽

Northwestern University

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Chorionic villus sampling: First-trimester prenatal diagnosis of partial 10q trisomy in a family with a translocation

American Journal of Obstetrics and Gynecology ◽

10.1016/0002-9378(85)90337-0 ◽

1985 ◽

Vol 153 (7) ◽

pp. 743-744 ◽

Cited By ~ 4

Author(s):

Susan B. Olson ◽

R.Ellen Magenis ◽

John G. Buckmaster ◽

John M. Bissonnette

Keyword(s):

Prenatal Diagnosis ◽

Chorionic Villus ◽

First Trimester ◽

Chorionic Villus Sampling

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Invasive Prenatal Diagnosis: Chorionic Villus Sampling

Donald School Journal of Ultrasound in Obstetrics & Gynecology ◽

10.5005/jp-journals-10009-1416 ◽

2015 ◽

Vol 9 (3) ◽

pp. 293-306

Author(s):

Panos Antsaklis ◽

Aris Antsaklis ◽

Michael Sindos ◽

Fotodotis M Malamas

Keyword(s):

Prenatal Diagnosis ◽

Obstet Gynecol ◽

Genetic Material ◽

Chorionic Villus ◽

First Trimester ◽

Chorionic Villus Sampling ◽

Maternal Circulation ◽

Maternal Cell ◽

Non Invasive ◽

Limb Reduction

ABSTRACT Chorionic villus sampling (CVS) is the method of choice for first trimester invasive prenatal diagnosis. In expert hands, it is nowadays considered as safe as amniocentesis and has the advantage of an earlier diagnosis. In this review, we describe the technique of the procedure, its indications and contraindications and the requirements concerning adequate training and optimum clinical practice. We also discuss issues concerning the safety of the procedure in singleton and multiple pregnancies, other complications and controversies, such as the association with limb reduction defects and pre-eclampsia, as well as diagnostic problems and dilemmas, such as maternal cell contamination and confined placental mosaicism. We also describe new and promising methods of non-invasive diagnosis, based on the isolation and analysis of fetal cells or cell-free fetal genetic material from the maternal circulation, that aim to replace the invasive methods of prenatal diagnosis in the future. How to cite this article Sindos M, Malamas FM, Antsaklis P, Antsaklis A. Invasive Prenatal Diagnosis: Chorionic Villus Sampling. Donald School J Ultrasound Obstet Gynecol 2015; 9(3):293-306.

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