The decline of amniocentesis and the increase of chorionic villus sampling in modern perinatal medicine

2020 ◽  
Vol 48 (4) ◽  
pp. 307-312 ◽  
Author(s):  
Giovanni Monni ◽  
Valentina Corda ◽  
Ambra Iuculano ◽  
Yalda Afshar
Keyword(s):  
Average Length ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Diagnostic Procedures ◽  
Rate Of Change ◽  
Descriptive Statistics ◽  
Chorionic Villus Sampling ◽  
Perinatal Medicine ◽  
Average Length Of Stay ◽  
International Training Program

AbstractObjectiveThe aims of this study were to determine the rate of change by type of diagnosis by transabdominal chorionic villus sampling (TA-CVS) vs. amniocentesis for aneuploidy and to describe a successful and intensive international training program for TA-CVS in ongoing pregnancies.MethodsWe conducted a retrospective cohort study of all deliveries from 2010 to 2018 in Sardinia. All invasive diagnostic procedures are conducted at a single regional perinatal referral center. Descriptive statistics were used to compare data across groups, and inter-correlations between variables were investigated by Pearson’s correlation coefficient. We subsequently describe the international trainee experiences in TA-CVS over a 35-year period.ResultsA total of 101,025 deliveries occurred over 9 years. The number of deliveries (13,413–9143, P < 0.0001) and total invasive diagnostic procedures (1506–858 per year, P = 0.019) declined over this period. The percentage of deliveries undergoing invasive diagnostic procedures remained steady (mean: 12.2%). In 2010, TA-CVS made up 32.3% of all invasive diagnostic procedures, while amniocentesis made up 67.7%. By 2018, TA-CVS made up 61.3% of the invasive diagnostic procedures, and amniocentesis, only 38.7%. The rate of TA-CVS increased over 9 years, while the rate of amniocentesis declined. A total of 236 trainees from 39 different countries and 5 different continents rotated through this site. The average length of stay was 2.4 weeks.ConclusionWe demonstrate an increasing prevalence of TA-CVS vs. amniocentesis in the current era of prenatal testing and underscore the importance of continuing to train specialists skilled in TA-CVS. Our global operative experience is feasible and sustainable and will have a lasting impact on physicians conducting invasive fetal procedures.

scholarly journals Chromosomal abnormalities in a decade of prenatal testing at the Department of Obstetrics and Pathology of Pregnancy Medical University of Lublin

2015 ◽  
Vol 125 (1) ◽  
pp. 29-31
Author(s):  
Arkadiusz Krzyżanowski ◽  
Tomasz Gęca ◽  
Maciej Kwiatek ◽  
Anna Kwaśniewska
Keyword(s):  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Diagnostic Procedures ◽  
First Trimester ◽  
Screening Tests ◽  
Premature Delivery ◽  
Chorionic Villus Sampling ◽  
Ultrasound Scan ◽  
Biochemical Tests

Abstract Introduction. Chromosomal abnormalities, one of the leading causes of pregnancy complications, attract attention of both researchers and clinicians. They use two approaches to identify chromosomal abnormalities, namely screening and diagnostic tests. Ultrasonography is a very reliable screening and diagnostic tool, but the only way to determine if there are any chromosomal defects in the fetus, is performing one of invasive diagnostics tests chorionic villus sampling (CVS), cordocentesis or amniocentesis. Unfortunately, these invasive diagnostic procedures carry a potentially high risk of complications. Using amniocentesis means a procedure-related miscarriage risk at a rate of about 0.5-1%. Aim. The aim of this paper was to present our own experience, results in performing amniocentesis and a review of the literature. Material and methods. During a 10-year period 237 mid-trimester, transabdominal amniocenteses were performed. Results. The follow-up revealed one spontaneous abortion within seven days after the procedure. Premature delivery occurred in fourteen cases (two of them with chromosomal abnormalities). No neonatal deaths related to amniocentesis were noticed. Chromosomal abnormalities were detected in 33 patients. Conclusions. In the group with chromosomal abnormalities the main indications to perform amniocentesis were: improper ultrasound scan and the first trimester biochemical, noninvasive screening tests. This is a proof that modern, non-invasive procedures like the first-trimester ultrasound scan and biochemical tests should be made available to every pregnant woman and not only to mothers’ aged >35 years or those with a poor obstetrics history.

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.

scholarly journals Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment?

2012 ◽  
Vol 15 (Supplement) ◽  
pp. 17-26 ◽  
Author(s):  
Neil D. Avent ◽  
A Webb ◽  
TE Madgett ◽  
T Miran ◽  
K Sillence ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Detection Rate ◽  
Improve Patient Safety ◽  
Chorionic Villus ◽  
Diagnostic Procedures ◽  
Chorionic Villus Sampling ◽  
Group Status ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

ABSTRACT Current invasive procedures [amniocentesis and chorionic villus sampling (CVS)] pose a risk to mother and fetus and such diagnostic procedures are available only to high risk pregnancies limiting aneuploidy detection rate. This review seeks to highlight the necessity of investing in non invasive prenatal diagnosis (NIPD) and how NIPD would improve patient safety and detection rate as well as allowing detection earlier in pregnancy. Non invasive prenatal diagnosis can take either a proteomics approach or nucleic acid-based approach; this review focuses on the latter. Since the discovery of cell free fetal DNA (cffDNA) and fetal RNA in maternal plasma, procedures have been developed for detection for monogenic traits and for some have become well established (e.g., RHD blood group status). However, NIPD of aneuploidies remains technically challenging. This review examines currently published literature evaluating techniques and approaches that have been suggested and developed for aneuploidy detection, highlighting their advantages and limitations and areas for further research.

Invasive Prenatal Diagnosis

2020 ◽  
Author(s):  
Kimberly Zayhowski
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Prenatal Care ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Chorionic Villus Sampling ◽  
Genetic Tests ◽  
Genetic Technologies ◽  
Invasive Techniques

Despite recent advances in genetic technologies that are making invasive prenatal diagnosis less common, amniocentesis and chorionic villus sampling (CVS) remain an integral part of prenatal care. A multitude of tests, including a variety of genetic tests, can be performed using samples collected from either procedure. Although invasive testing has limitations, many genetic conditions can only be diagnosed through invasive techniques during pregnancy. Invasive testing continues to assist patients and providers in making informed decisions regarding the care of pregnancies. This review details amniocentesis and chorionic villus sampling with a focus on genetic testing, describing why the tests are performed, the way in which they are performed, and the associated limitations and complications of the procedures.  This review 5 figures, 3 tables, and 26 references. Keywords: prenatal diagnosis, amniocentesis, chorionic villus sampling, genetic testing, genetic counseling, invasive prenatal testing, pregnancy, aneuploidy

Uptake of Noninvasive Prenatal Testing in Chinese Women following Positive Down Syndrome Screening

2014 ◽  
Vol 37 (2) ◽  
pp. 141-147 ◽  
Author(s):  
C.F. Poon ◽  
W.C. Tse ◽  
K.O. Kou ◽  
K.Y. Leung
Keyword(s):  
Down Syndrome ◽  
Chinese Women ◽  
Multivariable Analysis ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
First Trimester ◽  
Screening Methods ◽  
Chorionic Villus Sampling ◽  
Noninvasive Prenatal Testing ◽  
Down Syndrome Screening

Objectives: To investigate how the introduction of noninvasive prenatal testing (NIPT) influenced women's testing choices following a positive Down syndrome screening. Methods: A retrospective study was conducted to compare differences in the uptake rates of invasive prenatal diagnosis (IPD) or no testing in one public hospital 1 year before (pre-NIPT) and 1 and 2 years after the introduction of NIPT in private in August 2011 using descriptive analysis and a χ2 test. Conventional screening was funded publicly, but NIPT was not. Multivariable binary logistic regression was used to determine factors affecting choices. Results: In pre-NIPT and in years 1 and 2 after the introduction of NIPT, 306, 362 and 401 women who screened positive were seen, respectively. In year 1 and year 2, 12.6 and 26.7% of them underwent NIPT while IPD was decreased by 16.3 and 25.6%, respectively (p < 0.001). Both chorionic villus sampling and amniocentesis decreased in year 1, but only the former in year 2. However, the rate of declining further testing was similar before and after NIPT (p = 0.213). In multivariable analysis, first trimester screening, nulliparity and working women were significant predictors of accepting NIPT, while only nulliparity was a predictor of declining IPD (OR = 0.61). Conclusions: Introduction of NIPT resulted in a significant decrease in IPD for 2 consecutive years.

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.

Chorionic villus sampling experience of a reference perinatal medicine center

2019 ◽  
Vol 84 (3) ◽  
pp. 229-234
Author(s):  
M. Sinan Beksaç ◽  
Canan Unal ◽  
Atakan Tanacan ◽  
Erdem Fadiloglu ◽  
Ayşe Nur Çakar
Keyword(s):  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Perinatal Medicine

CHROMOSOMAL MICROARRAYS: THE BENEFITS AND CHALLENGES OF INTRODUCTION INTO PRENATAL DIAGNOSIS

2010 ◽  
Vol 21 (4) ◽  
pp. 307-322
Author(s):  
LISA G SHAFFER ◽  
DAVID CHITAYAT
Keyword(s):  
Down Syndrome ◽  
Chromosome Abnormality ◽  
Genetic Disorders ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Chromosome Analysis ◽  
Chorionic Villus Sampling ◽  
Ultrasound Findings ◽  
Medical Indications ◽  
Chromosomal Microarrays

Invasive prenatal testing, amniocentesis and chorionic villus sampling, has been used for over four decades to identify fetal genetic disorders. The most common test after obtaining fetal tissues is chromosome analysis, performed for a variety of medical indications including abnormal ultrasound findings, advanced maternal age and an abnormal screen for Down syndrome. About 2% of pregnancies in women over the age of 35 will show a chromosome abnormality, with trisomy 21 being the most common. In addition to Down syndrome, the most commonly observed trisomies are those of chromosomes 13 and 18. Numerical abnormalities of the sex chromosomes are also relatively common, as well as triploidy.

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