Chromosome findings in 2,500 second trimester amniocenteses

Crandall, Barbara F.; Lebherz, Thomas B.; Rubinstein, Lidia; Robertson, Rob; Sample, W. Frederick; Sarti, Dennis A.; Howard, Judy; Opitz, John M.

doi:10.1002/ajmg.1320050405

Cited by 56 publications

(42 citation statements)

References 5 publications

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“…1 This places them among the most common trisomies resulting in live birth. 2 XXX and XYY karyotypes are found in around 1 in 1000 live female and male births, respectively, and XXY (Klinefelter Syndrome) affect around 1.72 in 1000 live births.…”

Section: Introductionmentioning

confidence: 99%

Children with sex chromosome trisomies: parental disclosure of genetic status

Gratton

Myring

Middlemiss³

et al. 2015

Eur J Hum Genet

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Sex chromosome trisomies (SCTs) are frequently diagnosed, both prenatally and postnatally, but the highly variable childhood outcomes can leave parents at a loss on whether, when and how to disclose genetic status. In two complementary studies, we detail current parental practices, with a view to informing parents and their clinicians. Study 1 surveyed detailed qualitative data from focus groups of parents and affected young people with either Trisomy X or XYY (N = 34 families). These data suggested that decisions to disclose were principally affected by the child's level of cognitive, social and emotional functioning. Parents reported that they were more likely to disclose when a child was experiencing difficulties. In Study 2, standardised data on cognitive, social and emotional outcomes in 126 children with an SCT and 63 sibling controls highlighted results that converged with Study 1: logistic regression analyses revealed that children with the lowest levels of functioning were more likely to know about their SCT than those children functioning at a higher level. These effects were also reflected in the likelihood of parents to disclose to unaffected siblings, schools and general practitioners. In contrast, specific trisomy type and the professional category of the clinician providing the original diagnosis did not affect likelihood of disclosure. Our study emphasises the complex weighing up of costs and benefits that parents engage in when deciding whether to disclose a diagnosis.

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Section: Introductionmentioning

confidence: 99%

Children with sex chromosome trisomies: parental disclosure of genetic status

Gratton

Myring

Middlemiss³

et al. 2015

Eur J Hum Genet

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“…They are very often unaware of the sex chromosome aneuploidies (SCAs) which are among the most common disorders encountered and which are usually associated with a mild clinical outcome (primarily physical, behavior, and reproductive problems). The SCAs constitute about 25% of all chromosomal abnormalities detected after amniocentesis with an overall incidence of 1 in 300-340 [Crandall et al, 1980;Nielsen and Wohlert, 1991;Perrotin et al, 2000], their specific prevalence being 1/660 for 47,XXY, 1/700 for 47,XXX and 1/ 1000 for 47,XYY [Linden et al, 2002;Pieters et al, 2011]. These anomalies are detected by all testing modalities including traditional cytogenetic, QF-PCR rapid aneuploidies test, Array CGH and even non-invasive prenatal testing (NIPT) which allows prenatal testing for Down syndrome using cell free fetal DNA in the maternal blood thus avoiding the risk of miscarriage.…”

Section: Introductionmentioning

confidence: 99%

Counseling parents before prenatal diagnosis: Do we need to say more about the sex chromosome aneuploidies?

Lalatta

Tint

2013

American J of Med Genetics Pt A

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Sex chromosome trisomies (SCT), an extra X chromosome in females (triple X, XXX), males with an extra X chromosome (Klinefelter syndrome, XXY) or an extra Y chromosome (XYY) occur because of errors during meiosis and are relatively frequent in humans. Their identification has never been the goal of prenatal diagnosis (PD) but they almost never escape detection by any of the methods commonly in use. Despite recommendations and guide‐lines which emphasize the importance of structured counseling before and after PD, most women remain unaware that testing for serious genetic abnormalities is more likely to uncover these trisomies. With the increasing use of PD more and more prospective parents receive a diagnosis of sex chromosome trisomies and are faced with the dilemma of whether to terminate the pregnancy or to carry it to term. Despite the dramatic and emotionally devastating consequences of having to make such a decision, they have little opportunity to consider in advance the possible outcomes of such a pregnancy and, rather than relying on their own feelings and judgements, are forced to depend on the advice of counseling professionals who may or may not themselves be fully aware of what having an extra sex chromosome can mean to the development of a child. We address here the principles of reproductive autonomy together with an analysis of the major issues that ought to be discussed with the parents before a PD is carried out in order to minimize detrimental effects caused by this unexpected finding. © 2013 Wiley Periodicals, Inc.

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“…En effet, dans les 14 études qui ont été utilisées pour fin de comparaison des motifs d'amniocentèse, 6 seulement présentaient des résultats globaux (Simpsons et al 1976;Henry et al 1978;Hsu et al 1978;Golbus et al 1979;Daniel et al 1982;Schmid 1990). Les autres auteurs s'attardaient plus spécifiquement aux anomalies chromosomiques trouvées dans les cellules amniotiques de patientes ayant consulté pour âge maternel avancé (Crandall et al 1980;Bartsch et al 1976;Dacus et al 1985).…”

Section: Résultatsunclassified

“…Malheureusement, les découvertes fortuites ne font pas l'objet d'une discussion dans les autres études publiées (Young et al 1975;Crandall et al 1980;Stene et al 1984;Henry et ai 1978;Hsu et al 1978;Hanson et al 1985;Dacus et al 1985;Leshot et al 1985;Bartsch et al 1976;Tabor et al 1986;Tabor et Philip 1987;Davidson et al 1987;Eydoux et al 1989;Wolstenholme et al 1988).…”

Section: -^Runclassified

“…A plus long terme, des cas de détresse respiratoire à la naissance, de gangrène chez un nourrisson, le décès d'une mère 7 jours après la délivrance qui avait eu lieu à 30 semaines de gestation avec iso-immunisation positive, ont été rapportés (Simpsons et al 1976;Crandall et al 1980;Hunter et al 1987;Golbus et al 1979;Tabor et al 1986).…”

Section: Problèmes Plus Sérieuxunclassified

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Amniocenteses et anomalies genetiques a l hopital de Chicoutimi

Hamel¹

1991

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Chromosome findings in 2,500 second trimester amniocenteses

Cited by 56 publications

References 5 publications

Children with sex chromosome trisomies: parental disclosure of genetic status

Children with sex chromosome trisomies: parental disclosure of genetic status

Counseling parents before prenatal diagnosis: Do we need to say more about the sex chromosome aneuploidies?

Amniocenteses et anomalies genetiques a l hopital de Chicoutimi

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