Prenatal cystic fibrosis screening in a low-risk population undergoing chorionic villus sampling for fetal karyotyping

2008 ◽  
Vol 50 (1) ◽  
pp. 23-27 ◽  
Author(s):  
B. Brambati ◽  
M. C. Anelli ◽  
L. Tului
Keyword(s):  
Cystic Fibrosis ◽  
Chorionic Villus ◽  
Low Risk ◽  
Chorionic Villus Sampling ◽  
Risk Population ◽  
Cystic Fibrosis Screening

First-trimester fetal screening of cystic fibrosis in low-risk population

The Lancet ◽  
1993 ◽  
Vol 342 (8871) ◽  
pp. 624 ◽  
Author(s):  
B Brambati ◽  
L Tului ◽  
S Fattore ◽  
C Férec
Keyword(s):  
Cystic Fibrosis ◽  
First Trimester ◽  
Low Risk ◽  
Risk Population ◽  
Fetal Screening

Cytogenetic diagnoses after chorionic villus sampling are less reliable in very-high- or very-low-risk pregnancies

1993 ◽  
Vol 13 (10) ◽  
pp. 929-944 ◽  
Author(s):  
Ingo Kennerknecht ◽  
Gotthold Barbi ◽  
Michael Wolf ◽  
Mahmoud Djalali ◽  
Dieter Grab ◽  
...  
Keyword(s):  
Chorionic Villus ◽  
Low Risk ◽  
Chorionic Villus Sampling ◽  
Very High

Selective Abortion: A New Moral Order? Consensus and Debate in the Medical Community

1995 ◽  
Vol 25 (1) ◽  
pp. 65-84 ◽  
Author(s):  
Louise Bouchard ◽  
Marc Renaud ◽  
Odile Kremp ◽  
Louis Dallaire
Keyword(s):  
Cystic Fibrosis ◽  
Trisomy 21 ◽  
Chorionic Villus ◽  
Medical Community ◽  
Moral Order ◽  
Chorionic Villus Sampling ◽  
Fetal Anomalies ◽  
Huntington's Chorea ◽  
Selective Abortion ◽  
French Speaking

The authors discuss the results of a survey of the attitudes of Canadian and French (Picardie, Nord-Pas de Calais) physicians toward selective abortion of fetal anomalies detected by ultrasound, amniocentesis, or chorionic villus sampling. The study documents the threshold of acceptability of abortion of fetuses with selected anomalies, as well as the physicians' own perceptions of their role in the decision to abort. While there was no consensus among all Canadian physicians regarding the acceptability of abortion, more than 55 percent from France and Quebec would accept selective abortion of a fetus affected with trisomy 21, Duchenne muscular dystrophy, cystic fibrosis, Huntington's chorea, or spina bifida. In the province of Quebec, Anglophone physicians showed a greater acceptance of abortion than did their French-speaking colleagues. In reference to the physician's role in the decision to abort, French physicians are more directive than North American physicians. Cultural predispositions may explain these differences in attitudes.

Chorionic villus sampling in a high-risk population- 4 years' experience

1988 ◽  
Vol 95 (10) ◽  
pp. 1030-1035 ◽  
Author(s):  
R. H. T. WARD ◽  
M. PETROU ◽  
B. M. MODELL ◽  
P. D. KNOTT ◽  
D. MAXWELL ◽  
...  
Keyword(s):  
High Risk ◽  
Chorionic Villus ◽  
High Risk Population ◽  
Chorionic Villus Sampling ◽  
Risk Population

scholarly journals Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population

Medicina ◽  
2022 ◽  
Vol 58 (1) ◽  
pp. 79
Author(s):  
Cristina Gug ◽  
Ioana Mozos ◽  
Adrian Ratiu ◽  
Anca Tudor ◽  
Eusebiu Vlad Gorduza ◽  
...  
Keyword(s):  
High Risk ◽  
False Positive ◽  
Chromosomal Abnormalities ◽  
Screening Method ◽  
Chorionic Villus ◽  
Low Risk ◽  
Chorionic Villus Sampling ◽  
Acid Extraction ◽  
Number Of Patients ◽  
Fetal Fraction

Background and Objectives: Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, 13, sex chromosomes aneuploidies and several microdeletions. This study aimed to assess the accuracy of cell free DNA testing based on low-level whole-genome sequencing to screen for these chromosomal abnormalities and to evaluate the clinical performance of NIPT. Materials and Methods: 380 consecutive cases from a single genetic center, from Western Romania were included in this retrospective study. Cell-free nucleic acid extraction from maternal blood, DNA sequencing and analysis of sequenced regions were performed by BGI Hong Kong and Invitae USA to determine the risk of specific fetal chromosomal abnormalities. In high-risk cases the results were checked by direct analysis of fetal cells obtained by invasive methods: 6 chorionic villus sampling and 10 amniocenteses followed by combinations of QF-PCR, karyotyping and aCGH. Results: NIPT results indicated low risk in 95.76% of cases and high risk in 4.23%. Seven aneuploidies and one microdeletion were confirmed, the other results were found to be a false-positive. A gestational age of up to 22 weeks had no influence on fetal fraction. There were no significant differences in fetal fraction across the high and low risk groups. Conclusions: This is the first study in Romania to report the NIPT results. The confirmation rate was higher for autosomal aneuploidies compared to sex chromosome aneuploidies and microdeletions. All cases at risk for trisomy 21 were confirmed. Only one large fetal microdeletion detected by NIPT has been confirmed. False positive NIPT results, not confirmed by invasive methods, led to the decision to continue the pregnancy. The main limitation of the study is the small number of patients included. NIPT can be used as a screening method for all pregnancies, but in high-risk cases, an invasive confirmation test was performed.

scholarly journals Prenatal maternal plasma DNA screening for cystic fibrosis: A computer modelling study of screening performance

F1000Research ◽  
2017 ◽  
Vol 6 ◽  
pp. 1896
Author(s):  
Robert W. Old ◽  
Jonathan P. Bestwick ◽  
Nicholas J. Wald
Keyword(s):  
Cystic Fibrosis ◽  
Detection Rate ◽  
Computer Modelling ◽  
False Positive Rate ◽  
Chorionic Villus ◽  
Maternal Plasma ◽  
Carrier Testing ◽  
Chorionic Villus Sampling ◽  
Carrier Status ◽  
Dna Fragments

Background: Prenatal cystic fibrosis (CF) screening is currently based on determining the carrier status of both parents. We propose a new method based only on the analysis of DNA in maternal plasma. Methods: The method relies on the quantitative amplification of the CF gene to determine the percentage of DNA fragments in maternal plasma at targeted CF mutation sites that carry a CF mutation. Computer modelling was carried out to estimate the distributions of these percentages in pregnancies with and without a fetus affected with CF. This was done according to the number of DNA fragments counted and fetal fraction, using the 23 CF mutations recommended by the American College of Medical Genetics for parental carrier testing. Results: The estimated detection rate (sensitivity) is 70% (100% of those detected using the 23 mutations), the false-positive rate 0.002%, and the odds of being affected given a positive screening result 14:1, compared with 70%, 0.12%, and 1:3, respectively, with current prenatal screening based on parental carrier testing. Conclusions: Compared with current screening practice based on parental carrier testing, the proposed method would substantially reduce the number of invasive diagnostic procedures (amniocentesis or chorionic villus sampling) without reducing the CF detection rate. The expected advantages of the proposed method justify carrying out the necessary test development for use in a clinical validation study.

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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