Systematic review of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using free fetal DNA in maternal plasma
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We evaluated the system accuracy of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using cell-free fetal DNA in maternal plasma.Previous studies were searched in the MEDLINE database using the following keywords: "prenatal" and "aneuploidy" and "noninvasive or non-invasive" and "maternal".Identified studies were filtered using a QUADAS instrument.Four studies were identified and analyzed using QUADAS.The studies included 4167 cases of Down syndrome patients determined by noninvasive prenatal diagnosis with a sensitivity of 100% and specificity of 99.3%;There were 3455 cases of Edwards syndrome patients determined by noninvasive prenatal diagnosis with a sensitivity of 97.4% and specificity of 99.95%.Therefore, noninvasive prenatal diagnosis can be used to identify abnormal chromosomes with high accuracy using free fetal DNA in the maternal plasma.Keywords:
Cell-free fetal DNA
Prenatal screening
What's already known about this topic? Noninvasive DNA testing (NIDT) is recommended in many developed countries as an option for pregnant women who have already been determined to be at high risk for fetal aneuploidy. Over 2 years of clinical experience has been accumulated with offering NIDT as an advanced screen for fetal autosomal aneuploidy. At the present time, most testing is being performed by commercial organizations. What does this study add? This study provides a written transcript to accompany an oral debate that was presented at the 17th International Conference on Prenatal Diagnosis and Therapy in Lisbon, Portugal, on 3 June 2013. The debaters, who are both experts in maternal–fetal medicine, consider the benefits and limitations of offering NIDT to all pregnant women regardless of their a priori risk of having a fetus with a chromosome abnormality.
Dna testing
Cell-free fetal DNA
Prenatal screening
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Both intact fetal cells as well as cell-free fetal DNA are present in the maternal circulation and can be recovered for non-invasive prenatal genetic diagnosis. Although methods for enrichment and isolation of rare intact fetal cells have been challenging, diagnosis of fetal chromosomal aneuploidy including trisomy 21 in first- and second-trimester pregnancies has been achieved with a 50–75% detection rate. Similarly, cell-free fetal DNA can be reliably recovered from maternal plasma and assessed by quantitative PCR to detect fetal trisomy 21 and paternally derived single gene mutations. Real-time PCR assays are robust in detecting low-level fetal DNA concentrations, with sensitivity of approximately 95–100% and specificity near 100%. Comparing intact fetal cell versus cell-free fetal DNA methods for non-invasive prenatal screening for fetal chromosomal aneuploidy reveals that the latter is at least four times more sensitive. These preliminary results do not support a relationship between frequency of intact fetal cells and concentration of cell-free fetal DNA. The above results imply that the concentration of fetal DNA in maternal plasma may not be dependent on circulating intact fetal cells but rather be a product of growth and cellular turnover during embryonic or fetal development.
Cell-free fetal DNA
Trisomy
Fetal circulation
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Objective:To analyze the fetus defects among detected from prenatal maternal serum screening(hereinafter referred to prenatal screening)in Liuzhou area.Methods:The second-trimester maternal serum alpha-fetoprotein,free β-subunit of human chorionic gonadotropin and free estriol were determined and the risks were analyzed with a special software.The results were compared to the those of the Sonography,amniotic fluid tests and neonatal screening.Results:The detection rate of high-risk pregnant women was 9.0% with 7.4% of trisomy 21 syndrome(DS),0.4% of trisomy18 syndrome,0.9% of neural tube defects(NTD).Conclusion:Prenatal screening and prenatal diagnosis is an important measure to reduce birth defects,which has significant economic and social benefits.
Prenatal screening
Estriol
Trisomy
Cell-free fetal DNA
Human chorionic gonadotropin
Neural tube defect
Second trimester
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Objective:To analysis the clinic features of pregnant women with the Down′s syndrome fetus and to discuss the prenatal screening and prenatal diagnosis methods.Methods:the clinic documents of 42 cases were reviewed,which were diagnosed by karyotype analysis.Results:20 of the 42 cases are older than 35 years old pregnancy women(elder pregnancy group),3 were detected by the ultrasound with malformation,5 of them with some abnormal signs.The other 22 case(young pregnancy group),8 of them only detected by serum screening,10 were detected by the ultrasound with malformation,2 of them with some abnormal signs.1 was low risk and no abnomal signs was detected.Totally 6 of them were not end the pregnancy,one refused to followup,1 occurred fetsl death intrauterine,3 with fetal growth restriction,1 delivered with breech presentation.Conclusions:Eleder pregnancy women need Prenatal Diagnosis;the ultrasound scan play a important role in the diagnosis of chromosome abnormal fetus,it should be done for the with abnormal fetus who want to continuous pregnancy.We should pay more attention to the pregnancy women with fetal growth restriction.
Intrauterine growth restriction
Presentation (obstetrics)
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Non-invasive prenatal screening for fetal Down syndrome (NIFTY) by maternal plasma sequencing was performed in 12 subjects with twin pregnancies, including 11 with normal fetuses and 1 with discordant fetal Trisomy 21. For every sample, it was processed, sequenced and reported as soon as it was collected as other clinical samples for singleton pregnancies. The NIFTY test was negative in the 11 pregnancies carried normal fetuses, and was positive (high risk) in the case with discordant fetal Trisomy 21. The sensitivity and specificity were both 100%. This small case series suggested the NIFTY as a screening test for fetal Trisomy 21 is feasible in twin pregnancies.
Trisomy
Twin Pregnancy
Cell-free fetal DNA
Singleton
Prenatal screening
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Prenatal diagnosis of invasive and noninvasive tests can be done in a way (NIPT), but because of the invasive methods have risks of infection and abortion, diagnosing non-invasive procedure increasing day by day. One of the widespread cell free fetal DNA in maternal blood test (cffDNA) that is increasing in clinical use has been drawing attention. The incidence of aneuploidy chromosomal anomaly of the kind in which all live births; Trisomy 21 (Down Syndrome) 1/800, trisomy 13 (Patau syndrome) 1 /10,000, trisomy 18 (Edwards syndrome) is a form of 1/6000. Because of the high mortality and morbidity, it is vital that congenital anomalies should be diagnosed in prenatal period. Aneuploidy testing for high-risk pregnant women after the 10th week of pregnancy in terms of the blood sample is taken and free fetal DNA in maternal plasma is based on the measurement of the relative amount. Knowledge of the current criteria for use by healthcare professionals in the field test will allow the exclusion of maternal and fetal risks. In this study, it is aimed to demonstrate current international approaches related to the positive and negative sides of non-invasive that is one of the prenatal diagnostic methods of cffDNA test.
Cell-free fetal DNA
Trisomy
Prenatal screening
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Cell-free fetal DNA
Prenatal screening
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The first prenatal screening test was introduced in the 1970s: a single second-trimester serum test for maternal serum alpha-fetoprotein, a marker of neural tube defects. Aneuploidy screening using maternal serum markers was introduced in the 1980s, and the number and complexity of offered screening tests have been on an upward trajectory ever since. Prenatal genetic screening is used to assess whether there is an increased risk of the fetus being affected by a genetic disorder. Originally, prenatal genetic testing primarily focused on trisomy 21 (Down syndrome), but now it can detect a broad range of genetic disorders. Today, prenatal genetic screening falls into four categories: ultrasonography, maternal carrier status of specific genetic disorders, maternal serum assays looking for specific biochemical markers indicative of aneuploidy, and most recently, maternal plasma fetal cell-free fetal DNA (cffDNA), which has been used for aneuploidy, microdeletion, and copy number variants (CNVs). Maternal serum assays include first-trimester screening, the triple screen, the quadruple screen, and the penta screen. There is also the option of combining first-trimester and second-trimester screening with either integrated, sequential, or contingent screening protocol. This provides a higher detection rate than a one-step screening.
Cell-free fetal DNA
Trisomy
Prenatal screening
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Objective Detection of cell-free fetal mRNA in maternal plasma by real-time quantitative flouorescence polymerase chain reaction(QF-PCR) and on the basis of it's amount to discuss the feasibility as a new prenatal screening indicator of Down'S syndrome. Methods Peripheral blood samples (n=26) were collected from pregnant women attending the International Peace Maternity and Child Health Hospital,School of Medicine,Shanghai Jiaotong University from May 2007 to August 2008.Cel1-free fetal mRNA in maternal plasma was isolated from 26 samples in the midtrimester(15~26W)pregnancy.Samples consisted of 9 women carrying trisomy 21 fetuses(group B),4 carrying aneuploid fetuses(group C),and 13 carrying normal fetuses(group A).QF-PCR was used to detect HPL,β-HCG,TFPI2,DSCR4,LOC90625 gene markers of the placental origin and 18sRNA gene of the mothers and the fetuses. Results All abnormal high concentrations of cell-free fetal mRNA but TFPI2 were found in a proportion of women carrying trisomy 21 fetuses and aneuploid fetuses(P0.01).Conclusion Cell-free fetal mRNA in maternal plasma is a potential prenatal screening maker for trisomy 21.
Trisomy
Cell-free fetal DNA
Prenatal screening
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We evaluated the system accuracy of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using cell-free fetal DNA in maternal plasma.Previous studies were searched in the MEDLINE database using the following keywords: "prenatal" and "aneuploidy" and "noninvasive or non-invasive" and "maternal".Identified studies were filtered using a QUADAS instrument.Four studies were identified and analyzed using QUADAS.The studies included 4167 cases of Down syndrome patients determined by noninvasive prenatal diagnosis with a sensitivity of 100% and specificity of 99.3%;There were 3455 cases of Edwards syndrome patients determined by noninvasive prenatal diagnosis with a sensitivity of 97.4% and specificity of 99.95%.Therefore, noninvasive prenatal diagnosis can be used to identify abnormal chromosomes with high accuracy using free fetal DNA in the maternal plasma.
Cell-free fetal DNA
Prenatal screening
Cite
Citations (5)