Fetal sex determination from maternal plasma in pregnancies at risk for congenital adrenal hyperplasia

Rijnders, Robbert J.P.; Schoot, C. Ellen van der; Bossers, Bernadette; Vroede, Monique A. M. J. de; Christiaens, G. C. M. L.

doi:10.1016/s0029-7844(01)01480-6

Cited by 121 publications

(60 citation statements)

References 29 publications

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“…By detecting DNA originating from the Y chromosome of male fetuses, the number of invasive tests required could be halved [15] (as female fetuses would not need invasive testing; male fetuses would still need to be tested to determine if they have inherited the deleterious X-linked mutation). This technique can also be used in the clinical management of pregnancies at risk of certain endocrine disorders, such as congenital adrenal hyperplasia [16]. Numerous research studies have achieved high (>95%) sensitivity and specificity and, although well developed, these techniques remain limited to certain specialist genetics services [17].…”

Section: Cell-free Fetal Nucleic Acidsmentioning

confidence: 99%

Non-Invasive Prenatal Diagnosis Using Cell-Free Fetal DNA Technology: Applications and Implications

Hall

Bostanci²,

Wright

2010

Public Health Genomics

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Cell-free fetal DNA and RNA circulating in maternal blood can be used for the early non-invasive prenatal diagnosis (NIPD) of an increasing number of genetic conditions, both for pregnancy management and to aid reproductive decision-making. Here we present a brief review of the scientific and clinical status of the technology, and an overview of key ethical, legal and social issues raised by the analysis of cell-free fetal DNA for NIPD. We suggest that the less invasive nature of the technology brings some distinctive issues into focus, such as the possibility of broader uptake of prenatal diagnosis and access to the technology directly by the consumer via the internet, which have not been emphasised in previous work in this area. We also revisit significant issues that are familiar from previous debates about prenatal testing. Since the technology seems to transect existing distinctions between screening and diagnostic tests, there are important implications for the form and process involved in obtaining informed consent or choice. This analysis forms part of the work undertaken by a multidisciplinary group of experts which made recommendations about the implementation of this technology within the UK National Health Service.

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Section: Cell-free Fetal Nucleic Acidsmentioning

confidence: 99%

Non-Invasive Prenatal Diagnosis Using Cell-Free Fetal DNA Technology: Applications and Implications

Hall

Bostanci²,

Wright

2010

Public Health Genomics

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“…Reports of sex determination from fetal DNA in maternal plasma show promise [26, 27], but require more confirmation of the successful results.…”

Section: Prenatal Diagnosis Of 21ohdmentioning

confidence: 99%

Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia

Nimkarn

New

2006

Horm Res Paediatr

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Congenital adrenal hyperplasia is a group of inherited disorders caused by an enzyme deficiency in steroid biosynthesis. The most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency, which in its severe form can cause genital ambiguity in females. Steroid 21-hydroxylase deficiency can be diagnosed in utero through molecular genetic analysis of fetal DNA. Prenatal treatment successfully reduces genital ambiguity, and the subsequent problems of sex misassignment and gender confusion. Data from current studies show that prenatal diagnosis and treatment are safe for the mother and the fetus. The evidence also suggests that it is safe over the long term, but all subjects exposed to dexamethasone treatment during embryonic and fetal life should have their physical, cognitive and emotional developments recorded.

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“…Invasive prenatal diagnosis methods, such as chorionic villi sampling (CVS) and amniocentesis, entail procedure-related risks of fetal morbidity and mortality; however, non-invasive prenatal diagnoses would not only obviate the procedure-related risks of an invasive prenatal diagnosis, but also remove the anxiety associated with them on the part of pregnant women intending to undergo the procedure. An example of non-invasive prenatal diagnosis is fetal gender determination by examination of maternal plasma and serum (Lo et al 1997(Lo et al , 1998aZhong et al 2000aZhong et al , 2001Houfflin-Debarge et al 2000;Honda et al 2001;Sekizawa et al 2001;Rijnders et al 2001). One application of fetal gender determination to non-invasive prenatal diagnosis is as a "pre-test" to determine whether invasive prenatal diagnosis should be performed on a fetus having a risk of an X-linked recessive disorder.…”

Section: Introductionmentioning

confidence: 99%

“…Therefore, maternal plasma and serum should be obtained during the early gestational period before the 11th week for fetal gender determination as a "pre-test" prior to CVS. The technical improvements in fetal gender determination by using maternal plasma and serum are based on the improvement of DNA extraction from maternal plasma and serum and the introduction of fluorescence-based polymerase chain reaction (real-time quantitative PCR), which is the most sensitive method of identifying a male fetus at 94%-100% (Lo et al 1998a;Zhong et al 2000aZhong et al , 2001Sekizawa et al 2001;Rijnders et al 2001). Outwardly, these methods of determining fetal gender are almost ready for general application to the practical "pre-test", because of their high sensitivities.…”

Section: Introductionmentioning

confidence: 99%

Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum

et al. 2001

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Fetal DNA in maternal plasma and serum has been shown to be a useful material for fetal gender determination and for screening tests for abnormal pregnancies except during early gestational ages. Maternal serum samples were obtained from 81 pregnant women during the 5th-10th weeks of gestation. Fetal gender was determined by conventional polymerase chain reaction (PCR) to detect a Y-chromosomal sequence (DYS14) in maternal serum during early gestation and confirmed by examination of the newborns after delivery. Real-time quantitative analyses of the SRY and beta-globin genes were also performed in order to determine fetal gender and to quantify fetal DNA concentration in maternal serum during early gestation. When using conventional PCR, the total sensitivity of identifying a male fetus was 95%, but its sensitivity after the 7th week was 100%, whereas in real-time quantitative PCR, the total sensitivity after the 5th week was 100%. Quantitative analyses of the SRY gene revealed that the mean concentration of fetal DNA in maternal serum was 30.55 copies/ml, that fetal DNA concentration showed a tendency to increase with the progression of pregnancy, and that it had a wide normal range. Thus, we could confidently determine fetal gender by using maternal serum samples taken as early as the 7th week.

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Fetal sex determination from maternal plasma in pregnancies at risk for congenital adrenal hyperplasia

Cited by 121 publications

References 29 publications

Non-Invasive Prenatal Diagnosis Using Cell-Free Fetal DNA Technology: Applications and Implications

Non-Invasive Prenatal Diagnosis Using Cell-Free Fetal DNA Technology: Applications and Implications

Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia

Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum

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