Cytogenetic aspects of the Canadian early and mid-trimester amniotic fluid trial (CEMAT)

Winsor, Elizabeth J.T.; Tomkins, Darrell J.; Kalousek, Dagmar K.; Farrell, Sandra A.; Wyatt, Philip; Fan, Yao Shan; Carter, Ronald; Wang, Hungshu; Dallaire, Louis; Eydoux, Patrice; Welch, John P.; Dawson, A. M.; Lin, J. C. C.; Singer, Joel; Johnson, Jo Ann; Wilson, R. Douglas

doi:10.1002/(sici)1097-0223(199907)19:7<620::aid-pd599>3.0.co;2-e

Cited by 30 publications

(11 citation statements)

References 20 publications

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“…Malvestiti et al (30) found that of 1,001 cases of mosaicism at the time of CVS, on follow-up amniocentesis, mosaicism was confined to the placenta in 87% and generalized to the fetus in 13%. The rate of mosaicism at the time of amniocentesis is even lower, approximately 0.2%, and many of these cases are not confirmed at birth (32). Many of these studies used traditional karyotyping techniques with the disadvantages listed previously.…”

Section: Discussionmentioning

confidence: 99%

Why do euploid embryos miscarry? A case-control study comparing the rate of aneuploidy within presumed euploid embryos that resulted in miscarriage or live birth using next-generation sequencing

Maxwell

Colls

Hodes-Wertz

et al. 2016

Fertility and Sterility

166

136

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Section: Discussionmentioning

confidence: 99%

Why do euploid embryos miscarry? A case-control study comparing the rate of aneuploidy within presumed euploid embryos that resulted in miscarriage or live birth using next-generation sequencing

Maxwell

Colls

Hodes-Wertz

et al. 2016

Fertility and Sterility

166

136

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“…The high risk group is offered diagnostic testing, the moderate risk group continues to the second serum analyte screening step, and the low risk group is not offered further serum analyte screening. Once the moderate risk group undergoes second trimester analyte screening (AFP, hCG, uE3, and , 1995;Eddleman et al 2006;Jackson et al 1992;Sundberg et al 1997;The Canadian Early and Mid-trimester Amniocentesis Trial Group, 1998;Wapner et al 2003;Winsor et al 1999 1. May be performed at other gestational ages, but risks and benefits may vary…”

Section: Integrated Serum Integrated Stepwise Sequential and Continmentioning

confidence: 99%

“…88, 2007). Amniocentesis may also be used to test for ONTDs, biochemical abnormalities and single gene conditions (CDC, 1995;Winsor et al 1999). In 1995, the Centers for Disease Control and Prevention released a statement which estimated the procedurerelated risk for miscarriage to be 1/200 or 0.5 % based on previous studies.…”

Section: Amniocentesismentioning

confidence: 99%

NSGC Practice Guideline: Prenatal Screening and Diagnostic Testing Options for Chromosome Aneuploidy

Wilson

Czerwinski

Hoskovec

et al. 2012

Journal of Genetic Counseling

106

114

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The BUN and FASTER studies, two prospective multicenter trials in the United States, validated the accuracy and detection rates of first and second trimester screening previously reported abroad. These studies, coupled with the 2007 release of the American College of Obstetricians and Gynecologists (ACOG) Practice Bulletin that endorsed first trimester screening as an alternative to traditional second trimester multiple marker screening, led to an explosion of screening options available to pregnant women. ACOG also recommended that invasive diagnostic testing for chromosome aneuploidy be made available to all women regardless of maternal age. More recently, another option known as Non-invasive Prenatal Testing (NIPT) became available to screen for chromosome aneuploidy. While screening and testing options may be limited due to a variety of factors, healthcare providers need to be aware of the options in their area in order to provide their patients with accurate and reliable information. If not presented clearly, patients may feel overwhelmed at the number of choices available. The following guideline includes recommendations for healthcare providers regarding which screening or diagnostic test should be offered based on availability, insurance coverage, and timing of a patient's entry into prenatal care, as well as a triage assessment so that a general process can be adapted to unique situations.

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“…Needle injuries to the fetus have been reported but are rare when amniocentesis is performed under continuous ultrasonographic guidance. Amniotic fluid cell culture failure occurs in 0.1% of samples (29,30).…”

Section: Which Patients Are At Increased Risk Of a Fetal Genetic Disomentioning

confidence: 99%

Practice Bulletin No. 162

2016

Obstetrics &Amp; Gynecology

243

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Prenatal genetic diagnostic testing is intended to determine, with as much certainty as possible, whether a specific genetic disorder or condition is present in the fetus. In contrast, prenatal genetic screening is designed to assess whether a patient is at increased risk of having a fetus affected by a genetic disorder. Originally, prenatal genetic testing focused primarily on Down syndrome (trisomy 21), but now it is able to detect a broad range of genetic disorders. Although it is necessary to perform amniocentesis or chorionic villus sampling (CVS) to definitively diagnose most genetic disorders, in some circumstances, fetal imaging with ultrasonography, echocardiography, or magnetic resonance imaging may be diagnostic of a particular structural fetal abnormality that is suggestive of an underlying genetic condition.The objective of prenatal genetic testing is to detect health problems that could affect the woman, fetus, or newborn and provide the patient and her obstetrician-gynecologist or other obstetric care provider with enough information to allow a fully informed decision about pregnancy management. Prenatal genetic testing cannot identify all abnormalities or problems in a fetus, and any testing should be focused on the individual patient's risks, reproductive goals, and preferences. It is important that patients understand the benefits and limitations of all prenatal screening and diagnostic testing, including the conditions for which tests are available and the conditions that will not be detected by testing. It also is important that patients realize that there is a broad range of clinical presentations, or phenotypes, for many genetic disorders and that results of genetic testing cannot predict all outcomes. Prenatal genetic testing has many benefits, including reassuring patients when results are normal, identifying disorders for which prenatal treatment may provide benefit, optimizing neonatal outcomes by ensuring the appropriate location for delivery and the necessary personnel to care for affected infants, and allowing the opportunity for pregnancy termination.The purpose of this Practice Bulletin is to review the current status of prenatal genetic diagnostic testing and the evidence supporting its use. For information regarding screening for fetal aneuploidy, refer to Practice Bulletin No. 163, Screening for Fetal Aneuploidy.

show abstract

Cytogenetic aspects of the Canadian early and mid-trimester amniotic fluid trial (CEMAT)

Cited by 30 publications

References 20 publications

Why do euploid embryos miscarry? A case-control study comparing the rate of aneuploidy within presumed euploid embryos that resulted in miscarriage or live birth using next-generation sequencing

Why do euploid embryos miscarry? A case-control study comparing the rate of aneuploidy within presumed euploid embryos that resulted in miscarriage or live birth using next-generation sequencing

NSGC Practice Guideline: Prenatal Screening and Diagnostic Testing Options for Chromosome Aneuploidy

Practice Bulletin No. 162

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