Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature

Jeon, Kwon Chan; Chen, Lei‐Shih; Goodson, Patricia

doi:10.1038/gim.0b013e31822e57a7

Cited by 78 publications

(50 citation statements)

References 36 publications

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“…In a recent review [Jeon et al, 2012] specific factors, which might influence a parental decision to abort a fetus with SCA were examined. Among these is a type of SCA, age of parents, gestational age of pregnancy, number of children or a desire for more children, provider's genetic expertise, patient fear/anxiety, directive counseling, ethnicity.…”

Section: Discussionmentioning

confidence: 99%

“…While there is a vast literature on the PD of sex chromosome anomalies, many studies have focused mostly on the couples' behavior after prenatal detection of SCA, describing the kind of information given at the time of PD [Abramsky et al, 2001;Marteau et al, 2002;Boyd et al, 2011] and attempting to determine how different counseling approaches and parental attitudes affect the likelihood that the pregnancy will result in a termination (TOP) [Sagi et al, 2001;Hamamy and Dahoun, 2004;Shaw et al, 2008;Jeon et al, 2012]. Most of these studies evaluate the necessary posttest decision making process about TOP but under evaluate the contribution of parental preconceptional counseling and how increasing the information given to prospective parents before testing would allow them to understand the clinical implications of the findings and provide individualized support for decision making after they are told that the fetus has a SCT.…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

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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“…The literature does suggest that there is patient interest in prenatal SCA assessment and that it may be a factor in decisions regarding continuation of pregnancy. 22,23 Overall termination rates for SCAs vary across studies, but appear to be notably higher in cases of Monosomy X or XXY, and when the diagnosis is accompanied by an ultrasound finding. 24,25 For this reason, clinicians may find themselves balancing patient demand against concerns about the appropriate role of SCA in a screening program.…”

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confidence: 99%

Non‐invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction

Hooks¹,

Wolfberg²,

Wang³

et al. 2014

Prenat Diagn

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Objective To assess the performance of a directed chromosomal analysis approach in the prenatal evaluation of fetal sex chromosome aneuploidy.Methods We analyzed 432 frozen maternal plasma samples obtained from patients prior to undergoing fetal diagnostic testing. The cohort included women greater than 18 years of age with a singleton pregnancy of greater than 10 weeks gestation. Samples were analyzed using a chromosome-selective approach (DANSR TM ) and a risk algorithm that incorporates fetal fraction (FORTE TM ).Results The cohort included 34 cases of sex chromosome aneuploidy. The assay correctly identified 26 of 27 (92.6%) cases of Monosomy X, one case of XXX, and all six cases of XXY. There were four false positive cases of sex chromosome aneuploidy among 380 euploid cases for an overall false positive rate of less than 1%.Discussion Analysis of the risk for sex chromosome aneuploidies can be accomplished with a targeted assay with high sensitivity.

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“…The reason women stated for wanting to be informed was so that they could make informed choices and make preparations. According to the report by Jeon et al [27], the low incidence of prenatal karyotyping was mostly due to the very high proportion of couples who were willing to continue the pregnancy after counseling, regardless of the fetal chromosomal status. Their willingness to continue pregnancy has been found to be significantly affected by the post-genetic counseling process and the genetic experience of the healthcare provider.…”

Section: Discussionmentioning

confidence: 99%

Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cell-free fetal DNA in maternal plasma: The first clinical experience in Korea

et al. 2015

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JGM mostly trisomy 21, relies exclusively on biochemical and sonographic measurements performed in the first and second trimesters. With a 3-5% false-positive rate, first-trimester screening achieves a detection rate of about 60-95% for trisomy 21 [1][2][3]. In 1997, Lo et al. [4] www.e-kjgm.org Purpose: Noninvasive prenatal test (NIPT) by massively parallel sequencing (MPS) of cell-free fetal DNA in maternal plasma marks a significant advancement in prenatal screening, minimizing the need for invasive testing of fetal chromosomal aneuploidies. Here, we report the initial clinical performance of NIPT in Korean pregnant women. Materials and Methods: MPS-based NIPT was performed on 910 cases; 5 mL blood samples were collected and sequenced in the Shenzhen BGI Genomic Laboratory to identify aneuploidies. The risk of fetal aneuploidy was determined by L-score and t-score, and classified as high or low. The NIPT results were validated by karyotyping for the high-risk cases and neonatal follow-up for low-risk cases. Results: NIPT was mainly requested for two clinical indications: abnormal biochemical serum-screening result (54.3%) and advanced maternal age (31.4%). Among 494 cases with abnormal biochemical serum-screening results, NIPT detected only 9 (1.8%) high-risk cases. Sixteen cases (1.8%) of 910 had a high risk for aneuploidy: 8 for trisomy 21, 2 for trisomy 18, 1 for trisomy 13, and 5 for sex chromosome abnormalities. Amniocentesis was performed for 7 of these cases (43.8%). In the karyotyping and neonatal data, no false positive or negative results were observed in our study. Conclusion: MPS-based NIPT detects fetal chromosomal aneuploidies with high accuracy. Introduction of NIPT as into clinical settings could prevent about 98% of unnecessary invasive diagnostic procedures. Key words:Noninvasive prenatal test (NIPT), Cell-free fetal DNA (cffDNA), Fetal chromosomal aneuploidies.86 SH Han, et al. • Noninvasive prenatal test for fetal chromosomal aneuploidies www.e-kjgm.org of circulating cell-free fetal DNA (cffDNA) in maternal plasma, which has opened a new approach to noninvasive prenatal test (NIPT).Since the introduction of NIPT for fetal chromosomal aneuploidies by massively parallel sequencing (MPS), the clinical application of NIPT for screening high-risk pregnant women has grown significantly. Several validation studies of high-risk populations have demonstrated the detection rates for trisomy 21 of >99%, 98% for trisomy 18, and 89% for trisomy 13, with false positive rates of 0.1%, 0.1%, and 0.4%, respectively [5][6][7][8][9][10][11][12][13][14]. Consequently, in high-risk populations, NIPT has been shown to have a higher sensitivity and specificity than biochemical serumscreening tests that are currently in use for these trisomies. Recently, this new approach to fetal aneuploidy screening has been introduced in routine clinical practice [15].The excellent performance of NIPT in multiple clinical validations [5][6][7][8][9][10][11][12][13][14], the noninvasive nature of the testing, and the positi...

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Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature

Cited by 78 publications

References 36 publications

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

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

Non‐invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction

Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cell-free fetal DNA in maternal plasma: The first clinical experience in Korea

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