Prenatal cytogenetic diagnosis. Amniotic cell culture versus chorionic villus sampling.
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Chorionic villus sampling is under evaluation throughout the world. Amniocentesis with amniotic cell culture is reliable for the diagnosis of certain types of genetic disease in the second trimester, and has been the subject of extensive clinical and laboratory audit. Chorionic villus sampling has the advantage of the early diagnosis (for example, at 10 weeks) of chromosomal abnormalities, a shorter delay with results after the diagnostic procedure, and is, for some couples, a more socially and morally acceptable method of antenatal diagnosis. In current experience, the disadvantages of chorionic villus sampling include an increased fetal loss and an increased diagnostic error rate. Another factor is the early diagnosis of fetuses with chromosomal abnormalities--a proportion of whom would have miscarried spontaneously before being detected at an amniocentesis at 16 weeks. This has implications for an increased rate of therapeutic terminations of pregnancy. Chorionic villus sampling and amniotic cell culture are discussed and comparisons are drawn that concern the clinical advantages and diagnostic issues which are inherent in each method of prenatal diagnosis.Keywords:
Chorionic villus sampling
Amniocentesis
Chorionic villi
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Three main methods of prenatal diagnosis (Amniocentesis AMC, Chorionic villi sampling CVS and Cordocentesis FBS) have been used in Perinatal Centre of Central Bohemia. The chromosomal abnormalities in a group of 3,098 patients have been detected in 1.4% of fetuses. The inherited disorders were diagnosed using DNA analysis and biochemical examination of amniotic fluid. X-linked diseases in a group of 68 patients in 30.8% of fetuses have been diagnosed and inborn error of metabolism in a group of 29 indicated patients in 17.2% of fetuses were diagnosed. The incidence of fetal losses before 28th week of gestation was 0.4%.
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Cell-free fetal DNA
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To discuss the differential diagnosis of the hydatidiform mole and a coexisting fetus, to study the prenatal diagnosis and the clinical management of a twin pregnancy consisting of a complete mole and coexisting fetus (CMCF).Two cases of CMCF were reported retrospectively.In the first case, the hydatidiform mole and a coexisting fetus was found by B mode ultrasound at the 10th gestational week, the patient asked to terminate the pregnancy. The interphase FISH and karyotype analysis of the normal villi and the mole showed both of them were diploid, thus the CMCF was diagnosed. In the second case, the hydatidiform mole and a coexisting fetus was found by B mode ultrasound at the 21st gestational week. Transabdominal chorionic villi sampling and amniocentesis was performed, interphase FISH and karyotype analysis of the mole and the amniotic fluid showed both of them were diploid, thus the CMCF was diagnosed prenatally. The pregnancy was continued and premature rupture of membrane happened at the 28th gestational week, the cesarean section was performed. The neonate was healthy. The karyotype analysis of the placenta and the neonate was accordant with the prenatal diagnosis.As long as the hydatidiform mole and a coexisting fetus was found the prenatal diagnosis must be performed in order to differentiate the CMCF and the partial hydatidiform mole (PHM). The transabdominal chorionic villi sampling and the amniocentesis were ideal methods, interphase FISH and karyotype analysis of the mole and the amniotic fluid should be performed. If both of them were diploid, the CMCF could be diagnosed. The clinical management of CMCF should be done individually. If both of them were triploid, the PHM could be diagnosed.
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Partial Hydatidiform Mole
Chorionic villus sampling
Mole
Chorionic villi
Twin Pregnancy
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Chorionic villus sampling (CVS) has a promising future about early detection of fetal abnormalities. It has the potential to become a major tool in the prenatal diagnosis and therapy of genetic disorders. Villus samples can be analyzed by means of cytogenetic, biochemical or molecular technics. Information available at present indicates fetal loss rate should be in the same proportion than amniocentesis. CVS appears to be a reasonably safe and reliable method of prenatal diagnosis in the first trimester of pregnancy. This procedure is setting as fast as it is possible like an excellent alternative to amniocentesis.
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Objective To determine value of chorionic villus sampling(CVS) in early diagnosis of severe thalassemia.Methods 40 pregnant women,which their couples were both the same α or β thalassemia gene carrier,underwent chorionic villus biopsy at 11~13 weeks of gestation for villus α or β gene detection and karyotyping of the fetus.Results 7 fetuses with severe α-thalassemia and 2 fetuses with β thalassemia were identified.1 patient who had a fetus with hydrocephalus was detected by ultrasonography in the second trimester of gestation and received artificial abortion.8 elder pregnant women(their age were more than 35 years old) had normal karyotypes of the fetus in chromosome examination.Other 30 unaffected pregnant women delivered a healthy full-term baby.Conclusion Abdominal chorionic villus sampling in early pregnancy is an rapid,safe and effective method to prenatally identify those fetuses with major thalassemia.
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Molecular prenatal diagnosis of genetic conditions has historically required invasive procedures to obtain a sample of tissue from a developing pregnancy—either from the placenta (chorionic villus sampling) or from the amniotic fluid (amniocentesis). Both have a small risk of causing a miscarriage, and the earliest point at which testing can be undertaken is 11 weeks into a pregnancy (for CVS). Non-invasive prenatal testing (NIPT) is an exciting step forward in prenatal genetic diagnosis, whereby fetal DNA can be obtained and tested by taking blood samples from a pregnant mother. This avoids the miscarriage risk associated with invasive prenatal tests and can also be performed at an earlier stage of gestation. The paper by Duan et al 1 demonstrates the great potential benefits of this new technology for families affected by genetic conditions.
The presence of cell-free fetal DNA in maternal blood was demonstrated in 1997 by Lo et al , who showed that Y-chromosome-derived sequences were present in serum samples from women pregnant with male fetuses. This cell-free fetal DNA is derived from the placenta: it has placental epigenetic signatures and is present in anembryonic pregnancies. Cell-free fetal DNA fragments are shorter than background maternally derived free DNA fragments, and the concentration of fetal DNA in maternal serum rises as a pregnancy advances.2
NIPT exploits the presence of cell-free fetal DNA to allow genetic testing of fetal material without the need for an invasive procedure. From the first study that showed the potential to establish fetal sex by detecting Y-chromosome-derived sequences, later studies went on to …
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Abstract In the North‐Western Region we offer a service to examine fetuses aborted after the diagnosis of fetal abnormalities. Many obstetricians use this service. We examined 343 mid‐trimester fetuses over the last 5 years: 215 following an abnormal scan and 128 abnormal amniotic fluid or villus findings. When necessary, investigations were performed. A post‐mortem examination was always required. As a result of fetal investigation, the scan diagnosis was modified or refined in 91 cases (42·3 per cent). In three of these cases, no fetal abnormality was found. For the fetuses diagnosed as abnormal by amniocentesis or chorionic villus biopsy, in one (0·8 per cent) the pre‐termination diagnosis was not confirmed. The results were similar to those of our previous 5‐year study except (a) diagnosis of neural tube defects was rarely based on amniocentesis in the present study (2/62, 3·2 per cent) compared with the previous one (32/103, 31 per cent), and (b) renal abnormalities were more often diagnosed in the pre‐termination scan in the present study. We conclude that the examination of aborted mid‐trimester fetuses by dysmorphologists continues to improve diagnosis, allowing more accurate genetic counselling for the families.
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Chorionic villus sampling
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ABSTRACT Since all prenatal invasive procedures, such as amniocentesis and chorionic villus sampling carry a small risk for the pregnant woman and a risk to induce the loss of a pregnancy of up to 1%, there have been efforts now for at least a quarter of a century to develop a noninvasive method from the blood of pregnant women. First there was a considerable effort to isolate fetal cells from maternal circulation, and these techniques were carefully evaluated in a NIH-sponsored study of a few US American centers and ours in Basel/Switzerland. It turned out; however, that interphase fluorescence to identify fetal aneuploidies from these isolated cells was not reliable enough for clinical use. The breakthrough came with the recognition of the group by D Lo et al; who showed for the first time that cell-free fetal DNA in maternal plasma and serum can be used reliably for prenatal diagnosis. One of the first successful applications was the detection of the fetal Rhesus factor around 11 weeks of gestation in pregnancies of Rhesus-negative mothers. The Sequenom Company in San Diego, USA, which acquired the patent of D Lo et al on the use of cell free DNA and ours on size separation of fetal vs maternal DNA subsequently showed in large series that the noninvasive prenatal diagnosis of fetal trisomy 21 from maternal blood by massive parallel sequencing has an accuracy around 99%, and currently up to 100,000 cases have been investigated already in different laboratories. Also the noninvasive prenatal diagnosis of trisomies 18 and 13 is possible, and an increasing amount of single gene anomalies will be diagnosable in the future noninvasively. The whole development of noninvasive prenatal diagnosis is appositive example that long-term research pays-off to bring a concept from the first steps finally into clinical use. How to cite this article Holzgreve W. Noninvasive Prenatal Diagnosis from Maternal Blood: Finally Available after 20 Years of Research. Donald School J Ultrasound Obstet Gynecol 2013;7(4):440-442.
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Abstract Antenatal genotyping of the fetus is now in widespread use as an aid to the clinical management in cases where there is the potential of haemolytic disease of the newborn occurring. The rapid diagnosis of an antigen‐negative fetus will preclude the requirement for further, potentially risky invasive procedures being performed, whilst the determination of an antigen‐positive fetus allows the potential of intensifying obstetric care for this pregnancy. Molecular genotyping is a major clinical application which has led from the determination of the molecular bases of blood group antigens expressed, most of which have been defined at the level of the gene. All assays used are dependent on the Polymerase Chain Reaction amplification of fetal DNA derived from either amniotic fluid or chorionic villi. Recent work has explored the potential of utilising fetal cells found to be present in maternal peripheral blood as a source of nucleic acid for prenatal diagnosis. Using non‐invasive methods will preclude exposing mother and fetus to the potential hazards of invasive methods (amniocentesis, chorionic villus sampling and cordocentesis) which include miscarriage, fetal malformations and further maternal alloimmunisation.
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Cell-free fetal DNA
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Fetoscopy
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Chorionic villi
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