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Evaluation of an Improved Non-invasive Fetal Sex Determination in Haemophilia A Patients.

ABSTRACT: BACKGROUND:Haemophilia A (HA) is the most severe sex-linked bleeding disorder that is characterized with non-controlled and often threatening Haemorrhage. Routine fetal sex determination in early pregnancy with Haemophilia is based on invasive procedures that can be dangerous to the mother and fetus. AIM:The goal of this study is to present an improved assay for the non-invasive fetal sex determination using a Real-Time duplex PCR on the free fetal DNA (ffDNA) obtained from the maternal serum of the HA carriers. MATERIALS AND METHODS:Blood samples were eventually collected from 23 pregnant HA carriers between the 8(th) and 12(th) weeks of gestation, and after amplification by duplex-PCR of the single copy of Y chromosome-specific sequence (SRY), the product was then subjected to Real-Time PCR analysis. RESULTS:Data were compared with the outcome of chorionic villus sampling (CVS) and indicated that the SRY sequence was detected in 6 of 6 serum samples from male pregnancies and that sequence was absent in 9 samples where the fetus was female. The remaining samples determined without having the CVS positive samples. CONCLUSION:We tried to develop a Real-Time duplex PCR for accurate diagnosis of fetal gender early in the pregnancy of HA carriers. This study has brought up two remarkable points, the first is the method's improvement with high specificity in sex determination, especially in screening of prenatal sex-linked disorders in male gender and the second is that fresh serum samples would be a good source for this purpose, advocated by similar studies carried out in this regard.

SUBMITTER: Mokari-Zadeh N

PROVIDER: S-EPMC4572973 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature

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Evaluation of an Improved Non-invasive Fetal Sex Determination in Haemophilia A Patients.

Mokari-Zadeh Narmin N Mesbah-Namin Seyed Alireza SA

Journal of clinical and diagnostic research : JCDR 20150701 7

<h4>Background</h4>Haemophilia A (HA) is the most severe sex-linked bleeding disorder that is characterized with non-controlled and often threatening Haemorrhage. Routine fetal sex determination in early pregnancy with Haemophilia is based on invasive procedures that can be dangerous to the mother and fetus.<h4>Aim</h4>The goal of this study is to present an improved assay for the non-invasive fetal sex determination using a Real-Time duplex PCR on the free fetal DNA (ffDNA) obtained from the ma ...[more]

PMID: 26393142

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Project description:ContextNoninvasive prenatal determination of fetal sex using cell-free fetal DNA provides an alternative to invasive techniques for some heritable disorders. In some countries this testing has transitioned to clinical care, despite the absence of a formal assessment of performance.ObjectiveTo document overall test performance of noninvasive fetal sex determination using cell-free fetal DNA and to identify variables that affect performance.Data sourcesSystematic review and meta-analysis with search of PubMed (January 1, 1997-April 17, 2011) to identify English-language human studies reporting primary data. References from review articles were also searched.Study selection and data extractionAbstracts were read independently to identify studies reporting primary data suitable for analysis. Covariates included publication year, sample type, DNA amplification methodology, Y chromosome sequence, and gestational age. Data were independently extracted by 2 reviewers.ResultsFrom 57 selected studies, 80 data sets (representing 3524 male-bearing pregnancies and 3017 female-bearing pregnancies) were analyzed. Overall performance of the test to detect Y chromosome sequences had the following characteristics: sensitivity, 95.4% (95% confidence interval [CI], 94.7%-96.1%) and specificity, 98.6% (95% CI, 98.1%-99.0%); diagnostic odds ratio (OR), 885; positive predictive value, 98.8%; negative predictive value, 94.8%; area under curve (AUC), 0.993 (95% CI, 0.989-0.995), with significant interstudy heterogeneity. DNA methodology and gestational age had the largest effects on test performance. Methodology test characteristics were AUC, 0.988 (95% CI, 0.979-0.993) for polymerase chain reaction (PCR) and AUC, 0.996 (95% CI, 0.993-0.998) for real-time quantitative PCR (RTQ-PCR) (P = .02). Gestational age test characteristics were AUC, 0.989 (95% CI, 0.965-0.998) (<7 weeks); AUC, 0.994 (95% CI, 0.987-0.997) (7-12 weeks); AUC, 0.992 (95% CI, 0.983-0.996) (13-20 weeks); and AUC, 0.998 (95% CI, 0.990-0.999) (>20 weeks) (P = .02 for comparison of diagnostic ORs across age ranges). RTQ-PCR (sensitivity, 96.0%; specificity, 99.0%) outperformed conventional PCR (sensitivity, 94.0%; specificity, 97.3%). Testing after 20 weeks (sensitivity, 99.0%; specificity, 99.6%) outperformed testing prior to 7 weeks (sensitivity, 74.5%; specificity, 99.1%), testing at 7 through 12 weeks (sensitivity, 94.8%; specificity, 98.9%), and 13 through 20 weeks (sensitivity, 95.5%; specificity, 99.1%).ConclusionsDespite interstudy variability, performance was high using maternal blood. Sensitivity and specificity for detection of Y chromosome sequences was greatest using RTQ-PCR after 20 weeks' gestation. Tests using urine and tests performed before 7 weeks' gestation were unreliable.

Project description:IntroductionNon-invasive fetal electrocardiography (NIFECG) has potential benefits over the computerized cardiotocography (cCTG) that may permit its development in remote fetal heart-rate monitoring. Our study aims to compare signal quality and heart-rate detection from a novel self-applicable NIFECG monitor against the cCTG, and evaluate the impact of maternal and fetal characteristics on both devices.Material and methodsThis prospective observational study took place in a university hospital in London. Women with a singleton pregnancy from 28 + 0 weeks' gestation presenting for cCTG were eligible. Concurrent monitoring with both NIFECG and cCTG were performed for up to 60 minutes. Post-processing of NIFECG produced signal loss, computed in both 0.25 (E240)- and 3.75 (E16)-second epochs, and fetal heart-rate and maternal heart-rate values. cCTG signal loss was calculated in 3.75-second epochs. Accuracy and precision analysis of 0.25-second epochal fetal heart-rate and maternal heart-rate were compared between the two devices. Multiple regression analyses were performed to assess the impact of maternal and fetal characteristics on signal loss.Clinicaltrialsgov Identifier: NCT04941534.Results285 women underwent concurrent monitoring. For fetal heart-rate, mean bias, precision and 95% limits of agreement were 0.1 beats per minute (bpm), 4.5 bpm and -8.7 bpm to 8.8 bpm, respectively. For maternal heart-rate, these results were -0.4 bpm, 3.3 bpm and -7.0 to 6.2 bpm, respectively. Median NIFECG E240 and E16 signal loss was 32.0% (interquartile range [IQR] 6.5%-68.5%) and 17.3% (IQR 1.8%-49.0%), respectively. E16 cCTG signal loss was 1.0% (IQR 0.0%-3.0%). For NIFECG, gestational age was negatively associated with signal loss (beta = -2.91, 95% CI -3.69 to -2.12, P < 0.001). Increased body mass index, fetal movements and lower gestational age were all associated with cCTG signal loss (beta = 0.30, 95% CI 0.17-0.43, P < 0.001; beta = 0.03, 95% CI 0.01-0.05, P = 0.014; and beta = -0.28, 95% CI -0.51 to -0.05, P = 0.017, respectively).ConclusionsAlthough NIFECG is complicated by higher signal loss, it does not appear to be influenced by increased body mass index or fetal movement. NIFECG signal loss varies according to method of computation, and standards of signal acceptability need to be defined according to the ability of the device to produce clinically reliable physiological indices. The high accuracy of heart-rate indices is promising for NIFECG usage in the remote setting.

Dataset Information

Evaluation of an Improved Non-invasive Fetal Sex Determination in Haemophilia A Patients.

Publications

Evaluation of an Improved Non-invasive Fetal Sex Determination in Haemophilia A Patients.

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