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.

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.

Declining Rate of Invasive Procedures for Prenatal Diagnosis in the Era of Noninvasive Prenatal Testing

2014 ◽  
Vol 123 ◽  
pp. 196S-197S ◽  
Author(s):  
Aaron L. Turner ◽  
Steve Rad ◽  
Yalda Afshar ◽  
Paola Aghajanian ◽  
John Williams ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Prenatal Testing ◽  
Invasive Procedures ◽  
Noninvasive Prenatal Testing

FETAL NUCLEIC ACIDS IN MATERNAL PLASMA

2006 ◽  
Vol 17 (2) ◽  
pp. 125-137
Author(s):  
TRACY YH LEE ◽  
YM DENNIS LO
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Chorionic Villus ◽  
Fetal Loss ◽  
Maternal Plasma ◽  
Chorionic Villus Sampling ◽  
Invasive Procedures ◽  
Noninvasive Prenatal Diagnosis ◽  
The World ◽  
Definitive Methods

Prenatal diagnosis is now an established part of modern obstetrical practice around the world. While the current definitive methods for prenatal diagnosis rely mainly on invasive procedures such as chorionic villus sampling and amniocentesis, such procedures carry a low but definite risk of fetal loss. As a consequence of the procedure-associated risk of miscarriage, prenatal diagnosis is currently limited to pregnant women with an increased likelihood of bearing an abnormal fetus. To extend the application of prenatal diagnosis to all pregnant women, it has been a long-sought goal of researchers worldwide to introduce safer methods for prenatal diagnosis, towards noninvasive prenatal diagnosis.

scholarly journals Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast

2020 ◽  
Vol 40 (10) ◽  
pp. 1338-1342 ◽  
Author(s):  
Diane Van Opstal ◽  
Geerke M. Eggenhuizen ◽  
Marieke Joosten ◽  
Karin Diderich ◽  
Lutgarde Govaerts ◽  
...  
Keyword(s):  
Chorionic Villus ◽  
Prenatal Testing ◽  
Chorionic Villus Sampling ◽  
Noninvasive Prenatal Testing ◽  
Placental Mosaicism

scholarly journals Clinical significance and mechanisms associated with segmental UPD

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Peter R. Papenhausen ◽  
Carla A. Kelly ◽  
Samuel Harris ◽  
Samantha Caldwell ◽  
Stuart Schwartz ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Chorionic Villus Sampling ◽  
Clinical Effects ◽  
Noninvasive Prenatal Testing ◽  
Genomic Imbalance ◽  
Sequencing Studies ◽  
Somatic Selection ◽  
Early Developmental

AbstractWhole chromosome uniparental disomy (UPD) has been well documented with mechanisms largely understood. However, the etiology of segmental limited UPD (segUPD) is not as clear. In a 10-year period of confirming (> 300) cases of whole chromosome UPD, we identified 86 segmental cases in both prenatal and postnatal samples. Thirty-two of these cases showed mosaic segmental UPD at 11p due to somatic selection associated with Beckwith–Wiedemann syndrome. This study focuses on apparent mechanisms associated with the remaining cases, many of which appear to represent corrections of genomic imbalance such as deletions and derivative chromosomes. In some cases, segmental UPD was associated with the generation of additional genomic imbalance while in others it apparently resulted in restoration of euploidy. Multiple tests utilizing noninvasive prenatal testing (NIPT), chorionic villus sampling (CVS) and amniotic fluid samples from the same pregnancy revealed temporal evidence of correction and a “hotspot” at 1p. Although in many cases the genomic imbalance was dosage “repaired” in the analyzed tissue, clinical effects could be sustained due to early developmental effects of the original imbalance or due to its continued existence in other tissues. In addition, if correction did not occur in the gametes there would be recurrence risks for the offspring of those individuals. Familial microarray allele patterns are presented that differentiate lack of gamete correction from somatic derived gonadal mosaicism. These results suggest that the incidence of segUPD mediated correction is underestimated and may explain the etiology of some clinical phenotypes which are undetected by routine microarray analysis and many exome sequencing studies.

Prenatal Diagnosis

2018 ◽  
Author(s):  
Amber Mathiesen ◽  
Kali Roy
Keyword(s):  
Prenatal Diagnosis ◽  
Diagnostic Testing ◽  
Chorionic Villus ◽  
Molecular Testing ◽  
Chorionic Villus Sampling ◽  
Test Results ◽  
Genetic Condition ◽  
Prenatal Diagnostic ◽  
Prenatal Diagnostic Testing

Prenatal diagnosis is the term used to describe a set of tests that are designed to determine whether a specific genetic condition is present in a fetus. This chapter provides a detailed description of procedures as well as the types of testing options available for prenatal diagnosis. The two techniques for prenatal diagnosis, amniocentesis and chorionic villus sampling, are described in detail, including their procedures, risks, limitations, and their use in twin gestations. The prenatal diagnosis testing options are also described in detail, including karyotype, fluorescence in situ hybridization (FISH), microarray, molecular testing, and alpha-fetoprotein (AFP) and acetylcholinesterase (AChE) level testing. The chapter also includes images of karyotype, FISH, and microarray test results, and it also reviews the indications for prenatal diagnostic testing.

Dual and multiple trisomies: analysis of 38 cases from 13 thousand karyotyped embryos and fetuses

2017 ◽  
pp. 109-115
Author(s):  
N.P. Veropotvelyan ◽  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Primary Group ◽  
Chorionic Villus Sampling ◽  
Missed Abortion ◽  
Reproductive Losses

The study presents data of different authors, as well as its own data on the frequency of multiple trisomies among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of chromosomal abnormalities (CA) in I and II trimesters of gestation. The objective: determining the frequency of occurrence of double (DT) and multiple trisomies (MT) among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of occurrence of HA in I and II trimesters of gestation; establishment of the most common combinations of diesel fuel and the timing of their deaths compared with single regular trisomy; comparative assessment materinskogo age with single, double and multiple trisomies. Patients and methods. During the period from 1997 to 2016, the first (primary) group of products in 1808 the concept of missed abortion (ST) of I trimester was formed from women who live in Dnepropetrovsk, Zaporozhye, Kirovograd, Cherkasy, Kherson, Mykolaiv regions. The average term of the ST was 8±3 weeks. The average age of women was 29±2 years. The second group (control) consisted of 1572 sample product concepts received during medical abortion in women (mostly residents of Krivoy Rog) in the period of 5-11 weeks of pregnancy, the average age was 32 years. The third group was made prenatally karyotyped fruits (n = 9689) pregnant women with high risk of HA of the above regions of Ukraine, directed the Centre to invasive prenatal diagnosis for individual indications: maternal age, changes in the fetus by ultrasound (characteristic malformations and echo markers HA) and high risk of HA on the results of the combined prenatal screening I and II trimesters. From 11 th to 14 th week of pregnancy, chorionic villus sampling was performed (n=1329), with the 16th week – platsentotsentez (n=2240), 18 th and 24 th week – amniocentesis (n=6120). Results. A comparative evaluation of maternal age and the prevalence anembriony among multiple trisomies. Analyzed 13,069 karyotyped embryonic and fetal I-II trimester of which have found 40 cases of multiple trisomies – 31 cases in the group in 1808 missed abortion (2.84% of total HA), 3 cases including 1 572 induced medabortov and 7 cases during 9689 prenatal research (0.51% of HA). Determined to share the double trisomies preembrionalny, fetal, early, middle and late periods of fetal development. Conclusion. There were no significant differences either in terms of destruction of single and multiple trisomies or in maternal age or in fractions anembrionalnyh pregnancies in these groups. Key words: multiple trisomies, double trisomy, missed abortion, prenatal diagnosis.

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