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.

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.

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.

FIRST AND SECOND TRIMESTER SONOGRAPHIC SCREENING FOR FETAL DOWN SYNDROME

2011 ◽  
Vol 22 (1) ◽  
pp. 45-66
Author(s):  
JULIA UNTERSCHEIDER ◽  
FERGAL D MALONE
Keyword(s):  
Down Syndrome ◽  
Screening Method ◽  
Chorionic Villus ◽  
Nasal Bone ◽  
First Trimester ◽  
Maternal Serum ◽  
Ductus Venosus ◽  
Chorionic Villus Sampling ◽  
Detection Rates ◽  
Fetal Nasal Bone

Screening for Down syndrome is an important part of routine antenatal care and should be made available, if requested, after appropriate counselling including risks and benefits, to all pregnant women, regardless of maternal age. Prenatal screening for fetal Down syndrome and other aneuploidies has advanced significantly since its advent in the 1980s. Historically, women 35 years or older were offered prenatal genetic counselling and the option of a diagnostic test such as chorionic villus sampling or amniocentesis. With this screening approach only 20% to 30% of the fetal Down syndrome population are detected antenatally. Sonographic and maternal biochemical markers are now used in combination to screen for aneuploidies in the first and second trimesters. The most common screening method in the first trimester combines the maternal serum markers HCG and PAPP-A with the sonographic evaluation of fetal nuchal translucency thickness. Newer markers have been proposed to further refine the risk assessment for Down syndrome to maximise detection rates and minimise false positive rates. These newer first trimester markers include sonographic assessment of the fetal nasal bone (NB), the frontomaxillary facial (FMF) angle, ductus venosus (DV) Doppler and tricuspid valve regurgitation (TR).

Sign in / Sign up

Export Citation Format

Share Document