The best approach for early prediction of fetal gender by using free fetal DNA from maternal plasma

Picchiassi, Elena; Coata, Giuliana; Fanetti, Alessia; Centra, Michela; Pennacchi, Luana; Renzo, Gian Carlo Di

doi:10.1002/pd.2018

Cited by 51 publications

(56 citation statements)

References 25 publications

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“…The diagnostic sensitivity of the sex detection test is similar to that demonstrated by plasma DNAbased tests (25)(26)(27). However, the chances of urinary DNA contamination are higher than those for plasma DNA, and therefore effective precautions must be used.…”

Section: Discussionmentioning

confidence: 73%

Optimization of Transrenal DNA Analysis: Detection of Fetal DNA in Maternal Urine

Shekhtman¹,

Anne²,

Melkonyan³

et al. 2009

Clinical Chemistry

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Section: Discussionmentioning

confidence: 73%

Optimization of Transrenal DNA Analysis: Detection of Fetal DNA in Maternal Urine

Shekhtman¹,

Anne²,

Melkonyan³

et al. 2009

Clinical Chemistry

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“…Another disadvantage of DYS14 is that it is detected at higher sensitivity than the target gene. 26 For future studies, RASSF1A, a tumour suppressor gene, may be considered as a potentially useful generic marker for circulating fetal DNA. 27 RASSF1A may represent a universal marker because it is differentially methylated in the placenta compared with the genomic DNA of adults.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy

Gutensohn¹,

Müller

Thomann

et al. 2010

BJOG

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Objective The aim of the study was to determine the sensitivity, specificity and accuracy of noninvasive tests for the fetal rhesus CcEc (RHCE) alleles C, c and E in early pregnancy.Design A prospective clinical trial was carried out to evaluate diagnostic accuracy.Setting Women were recruited at four centres specialising in prenatal diagnosis. Peripheral blood and amniotic fluid samples were obtained and sent to a single laboratory for analysis.Sample A total of 233 tests (46 for C, 87 for c and 100 for E) were performed on 181 specimens obtained from pregnant women at weeks 12 to 28 (median week 16) of gestation.Methods Following automated extraction of fetal DNA from maternal plasma, two different real-time polymerase chain reaction (PCR) protocols were used for the detection of the C, c and E alleles of RHCE. The results of the PCR were compared with genotyping results for the amniotic fluid.Main outcome measures Failure rate, sensitivity, specificity and accuracy were the main outcome measures.Results Unequivocal results were obtained for all specimens. With the first PCR protocol, the sensitivity was 100% for C, 38% for c and 59% for E. In contrast, with the second protocol, the sensitivity for C, c and E was 100%. The specificity for all assays was found to be between 99% and 100%.Conclusions A highly accurate protocol has been identified for the detection of fetal RHCE alleles in maternal plasma in early pregnancy. This noninvasive approach can be considered as a useful test in the management of pregnancies with anti-c, anti-E or anti-C alloimmunisation.

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“…Because of the higher sensitivity of DYS14, testing for only DYS14 has been suggested. 32,33 However, the inclusion of two multicopy Y-chromosome-specific assays increases the sensitivity and specificity of the test as a whole.…”

Section: Genetics In Medicine | Volume 14 | Number 1 | January 2012mentioning

confidence: 99%

“…30,31 Second, regarding false-positive results, it has been observed that a multicopy sequence, such as DYS14, is more sensitive, accurate, and efficient than the single-copy SRY in the assessment of cffDNA, which is particularly important early in the first trimester of pregnancy when the copy numbers of fetal DNA are low. 32 The drawback of the DYS14 sequence is that it has considerable homology to sequences other than the Y chromosome that could falsely classify female fetuses as male. 33 In comparison with previous studies, 34 we have obtained a high frequency of amplification signals with DYS14 PCR in female fetuses (35% vs. 63.9%).…”

Section: Genetics In Medicine | Volume 14 | Number 1 | January 2012mentioning

confidence: 99%

Noninvasive fetal sex determination in maternal plasma: a prospective feasibility study

Fernández-Martínez¹,

Galindo

García-Burguillo

et al. 2012

Genetics in Medicine

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Purpose: To prospectively validate a protocol for noninvasive fetal sex determination in maternal plasma and demonstrate its applicability to clinical practice. methods: Peripheral blood from 404 pregnant women undergoing prenatal invasive testing was collected from 6 to 23 weeks of gestation. Real-time PCR was performed for the SRY gene and multicopy DYS14 marker sequence located within the TSPY gene by the TaqMan minor groove binder probe assay as a first-line test. Owing to a false-positive result, amplification of repetitive motifs of the DAZ gene region was also tested as a second-line test performed in the last 232 patients enrolled in our series. A diagnostic algorithm was designed using a combination of these three markers. Fetal gender determined by noninvasive prenatal diagnosis (NIPD) was compared with that diagnosed by quantitative fluorescent PCR after invasive testing or ultrasound.Results: A single false-positive result was obtained in the first 172 pregnancies. Reporting criteria were modified in the subsequent 232 pregnancies, giving an overall sensitivity and specificity of 100% (95% CI 99.8-100%) and 99.5% (95% CI 98

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The best approach for early prediction of fetal gender by using free fetal DNA from maternal plasma

Abstract: DYS14 assay is the best approach for early fetal gender assessment because it is more sensitive, accurate, and efficient than the SRY assay.

Cited by 51 publications

References 25 publications

Optimization of Transrenal DNA Analysis: Detection of Fetal DNA in Maternal Urine

Optimization of Transrenal DNA Analysis: Detection of Fetal DNA in Maternal Urine

Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy

Noninvasive fetal sex determination in maternal plasma: a prospective feasibility study

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