scholarly journals Diagnostic Prenatal Invasive Procedures in Obstetrics

2013 ◽  
Vol 7 (4) ◽  
pp. 426-428 ◽  
Author(s):  
Maria Angelica Zoppi
Keyword(s):  
Single Gene ◽  
Chorionic Villus ◽  
Genetic Diagnosis ◽  
Beta Thalassemia ◽  
Pcr Analysis ◽  
Comparative Genomic ◽  
Chorionic Villus Sampling ◽  
Invasive Procedures ◽  
Diagnostic Prénatal ◽  
Fetal Blood Sampling

ABSTRACT In 1977, we performed in Cagliari the first invasive prenatal diagnosis for beta-thalassemia in Europe, using fetal blood sampling by placentacentesis and chain globins analysis at 20th week of gestation. Since then we have performed more than 8,000 fetal diagnoses for beta-thalassemia using placentacentesis, fetoscopy, cordocentesis, cardiocentesis, amniocentesis, transcervical-chorionic villus sampling (TC-CVS), transabdominal (TA-CVS) and preimplantation genetic diagnosis (PGD) by embryo biopsy. Since 1986 we have been using for the beta-thalassemia and other single gene diseases only TA-CVS and PGD and DNA polymerase chain reaction (PCR) analysis. For karyotype we have been using mostly TA-CVS and amniocentesis and traditional cytogenetic analysis, in several cases also fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) array. How to cite this article Monni G, Zoppi MA, Iuculano A. Diagnostic Prenatal Invasive Procedures in Obstetrics. Donald School J Ultrasound Obstet Gynecol 2013;7(4):426-428.

scholarly journals Basic Diploma in International Ultrasound for Prenatal Diagnosis and Therapy

2013 ◽  
Vol 7 (3) ◽  
pp. 346-348
Author(s):  
Maria Angelica Zoppi
Keyword(s):  
Prenatal Diagnosis ◽  
Chorionic Villus ◽  
Diagnostic Procedures ◽  
Beta Thalassemia ◽  
Chorionic Villus Sampling ◽  
Diagnosis And Therapy ◽  
Fetal Blood Sampling ◽  
Chain Analysis ◽  
Invasive Techniques ◽  
Chromosomal Diseases

ABSTRACT In the Microcitemico Hospital the first prenatal diagnosis in Europe of beta-thalassemia was performed in 1977 using fetal blood sampling and globin chain analysis at 20th week of gestation. Since then, more than 55,000 prenatal invasive procedures were performed in our center for several genetic and chromosomal diseases. In 2011, our department has been introduced as a center for teaching invasive diagnostic procedures under the umbrella of the Ian Donald International University School of Medical Ultrasound. After a period of tutoring for 2 or more weeks, fellow doctors who intend to learn invasive techniques for prenatal diagnosis under the direct supervision of a senior tutor (G. Monni) can receive the basic diploma in invasive prenatal procedures (Fig. 1). In the following study, we describe the training process of the invasive prenatal procedure performed by transabdominal chorionic villus sampling (TA-CVS). How to cite this article Monni G, Zoppi MA, Iuculano A. Basic Diploma in International Ultrasound for Prenatal Diagnosis and Therapy. Donald School J Ultrasound Obstet Gynecol 2013;7(3):346-348.

Prenatal diagnosis using fetal cells in the maternal circulation

1995 ◽  
Vol 7 (2) ◽  
pp. 77-86 ◽  
Author(s):  
D Gänshirt ◽  
HSP Garritsen ◽  
W Holzgreve
Keyword(s):  
Prenatal Diagnosis ◽  
Single Gene ◽  
Chorionic Villus ◽  
Fetal Tissue ◽  
Chorionic Villus Sampling ◽  
Chromosomal Anomalies ◽  
Maternal Circulation ◽  
Fetal Cells ◽  
Fetal Blood Sampling ◽  
Sampling Procedures

Since the introduction of ultrasound into obstetrics during the 1960s, there has been rapid progress in the detection of genetic and nongenetic defects in utero. With the development of sampling procedures like amniocentesis, chorionic villus sampling (CVS) and fetal blood sampling, the obstetrician has been able to obtain fetal tissue and the parallel improvement in laboratory techniques has allowed the diagnosis of chromosomal anomalies and single gene defects from fetal cells. Amniocentesis and CVS have become well established techniques for routine prenatal diagnosis of chromosomal and metabolic disorders and fetal tissue is now accessible throughout all three trimesters.

scholarly journals Ultrasound-Guided Invasive Procedures in Genetic Prenatal Diagnostics

2011 ◽  
Vol 5 (2) ◽  
pp. 137-139
Author(s):  
Miroslaw Wielgos ◽  
Piotr Wegrzyn
Keyword(s):  
High Risk ◽  
False Positive Rate ◽  
Chorionic Villus ◽  
High Risk Group ◽  
Screening Methods ◽  
Chorionic Villus Sampling ◽  
Invasive Procedures ◽  
Fetal Blood Sampling ◽  
Wide Range ◽  
Positive Rate

ABSTRACT There is a wide range of noninvasive screening methods that aim to identify the subgroup of fetuses that are in a high risk of chromosomal defects. Invasive procedures should be offered to women in the high-risk group identified with the highest possible detection rate and the lowest false-positive rate. The method of choice at 11 + 0 - 13 + 6 weeks is chorionic villus sampling. An early amniocentesis is much more dangerous and should be abandoned. CVS should be performed not earlier than at 11 + 0 weeks of pregnancy. Amniocentesis should be performed no earlier that at 15 + 0 weeks. Earlier procedure is associated with significantly higher rate of talipes equinovarius, amniotic fluid leakage and miscarriage. The umbilical cord insertion is a preferable site for fetal blood sampling. Care must be taken to distinguish between the vein and the artery, and the vein must be sampled, not the artery. The operator's experience is very important issue. It has been postulated that to achieve a reasonable experience one should perform a minimum of 100 chorionic villus samplings, and a reasonable number of invasive procedures should be performed yearly.

Trends in Invasive Prenatal Diagnosis: Effect of Sequential Screening and Noninvasive Prenatal Testing

2015 ◽  
Vol 39 (4) ◽  
pp. 292-296 ◽  
Author(s):  
Adeeb Khalifeh ◽  
Stuart Weiner ◽  
Vincenzo Berghella ◽  
Alan Donnenfeld
Keyword(s):  
Prenatal Diagnosis ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Chorionic Villus Sampling ◽  
Invasive Procedures ◽  
Noninvasive Prenatal Testing ◽  
Sequential Screening ◽  
Period 2 ◽  
Prenatal Diagnostic ◽  
The Impact

Objective: To examine trends in the incidence and method of invasive prenatal diagnosis due to the impact of sequential screening and noninvasive prenatal testing. Methods: This is a retrospective review of all pregnancies that have undergone invasive prenatal diagnostic testing between June 2002 and June 2014, divided in 3 periods: period 1 from June 2002 to October 2006, period 2 from November 2006 to December 2011, and period 3 from January 2012 to June 2014. The main outcome measures were trends in the incidence and method of each procedure. Results: There were 88,135 deliveries and 6,080 invasive procedures during the study period. In period 1, 2,755 (8.8%) procedures were carried out, in period 2 2,820 (7.3%), and in period 3 505 (2.5%; p < 0.01). In period 1, there were 1,990 (6.3%) cases of amniocentesis, 1,646 (4.3%) in period 2, and 254 (1.2%) in period 3 (p < 0.01). In addition, in 765 (2.5%) cases, chorionic villus sampling (CVS) was performed in period 1, compared to 1,174 (3.0%) cases in period 2 and 251 (1.3%) cases in period 3 (p < 0.01). Advanced maternal age as the sole indication for invasive procedures decreased significantly over time, while the indication of abnormal serum screening and abnormal ultrasound findings increased (p < 0.01). Conclusion: There was a significant decline in the incidence of invasive prenatal testing over the 12 years of the study. The decrease in amniocentesis was more marked than that in CVS.

Integrating Microarrays into Routine Prenatal Diagnosis: Determinants of Decision Making

2016 ◽  
Vol 40 (2) ◽  
pp. 135-140 ◽  
Author(s):  
Marcos Cordoba ◽  
Stephanie Andriole ◽  
Shara M. Evans ◽  
David Britt ◽  
Melissa Chu Lam ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Strong Predictor ◽  
Demographic Data ◽  
Chorionic Villus ◽  
First Trimester ◽  
Comparative Genomic ◽  
Prior History ◽  
Chorionic Villus Sampling ◽  
Retrospective Case

Objectives: The explosion in genetic technologies, including array comparative genomic hybridization (aCGH), has increased the complexity of genetic counseling. We now offer chorionic villus sampling (CVS) and aCGH to all first-trimester patients, as this allows the prenatal diagnosis of an additional 1% of anomalies not otherwise detectable and can detect genetic copy number variants at a much higher resolution than conventional cytogenetics. Here, we explored some of the determinants of how patients are deciding to use or not use this new technology and evaluate risk-benefit analyses for that decision. Methods: This is a retrospective case-control study of singleton and multiples pregnancies at our center. Those having aCGH testing along with CVS were defined as ‘testers' and those who declined aCGH but had the CVS were ‘nontesters'. Results: Demographic data of 181 educated women who chose CVS were compared. Among those carrying singletons (n = 144), older women, defined as over 35 years of age (or ‘advanced maternal age'; AMA), were more likely to choose the aCGH than younger women. Further, women who had a prior history of genetic testing and who wanted to know the gender of the fetus were more likely to choose the aCGH test. In women carrying multiples (n = 37), AMA ceases to be a predictor of choice. Having had prior genetic counseling remains a strong predictor for choosing aCGH, as does wanting to know the gender of the fetus. Neither prior abortions nor having prior children were significant for women carrying singletons or multiples. Conclusion: Offering pregnant couples an individualized choice regarding aCGH seems an appropriate approach. There are discrete patterns associated with the choice of taking the aCGH that varied depending on whether the patient was carrying a singleton or multiples.

scholarly journals Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis

2020 ◽  
Author(s):  
Elin Tønne ◽  
Bernt Johan Due-Tønnessen ◽  
Inger-Lise Mero ◽  
Ulrikke Straume Wiig ◽  
Mari Ann Kulseth ◽  
...  
Keyword(s):  
High Throughput ◽  
High Throughput Sequencing ◽  
Diagnostic Yield ◽  
Single Gene ◽  
Genetic Diagnosis ◽  
Gene Analysis ◽  
Comparative Genomic ◽  
Genetic Syndromes ◽  
Clinical Criteria ◽  
Syndromic Craniosynostosis

AbstractAn accurate diagnosis of syndromic craniosynostosis (CS) is important for personalized treatment, surveillance, and genetic counselling. We describe detailed clinical criteria for syndromic CS and the distribution of genetic diagnoses within the cohort. The prospective registry of the Norwegian National Unit for Craniofacial Surgery was used to retrieve individuals with syndromic CS born between 1 January 2002 and 30 June 2019. All individuals were assessed by a clinical geneticist and classified using defined clinical criteria. A stepwise approach consisting of single-gene analysis, comparative genomic hybridization (aCGH), and exome-based high-throughput sequencing, first filtering for 72 genes associated with syndromic CS, followed by an extended trio-based panel of 1570 genes were offered to all syndromic CS cases. A total of 381 individuals were registered with CS, of whom 104 (27%) were clinically classified as syndromic CS. Using the single-gene analysis, aCGH, and custom-designed panel, a genetic diagnosis was confirmed in 73% of the individuals (n = 94). The diagnostic yield increased to 84% after adding the results from the extended trio-based panel. Common causes of syndromic CS were found in 53 individuals (56%), whereas 26 (28%) had other genetic syndromes, including 17 individuals with syndromes not commonly associated with CS. Only 15 individuals (16%) had negative genetic analyses. Using the defined combination of clinical criteria, we detected among the highest numbers of syndromic CS cases reported, confirmed by a high genetic diagnostic yield of 84%. The observed genetic heterogeneity encourages a broad genetic approach in diagnosing syndromic CS.

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