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.

scholarly journals Trisomy 21 in both fetuses in a DCDA twin pregnancy

2019 ◽  
Vol 12 (4) ◽  
pp. e227608
Author(s):  
Jiawen Ong ◽  
Arundhati Gosavi ◽  
Arijit Biswas ◽  
Mahesh Choolani
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Twin Pregnancy ◽  
Prenatal Screening ◽  
Chorionic Villus ◽  
Screening Tests ◽  
In Vitro Fertilisation ◽  
Chorionic Villus Sampling ◽  
Detection Rates

A woman’s chances of having a child with Down syndrome increases with age. By age 40, the risk of conceiving a child with Down syndrome is about 1 in 100. We report a rare case of dizygotic dichorionic diamniotic twin pregnancy conceived via in vitro fertilisation, with both twins having trisomy 21. Both fetuses were independently detected to be at high risk of autosomal trisomy, initially via first-trimester screening and subsequently via invasive definitive diagnostic tests (ie, chorionic villus sampling and amniocentesis).Diagnosis of trisomy 21 has to be made via initial non-invasive prenatal screening, followed by further rigorous and accurate invasive pregnancy testing for confirmation. The gravity of the results necessitates high detection rates and high specificity of prenatal screening tests. Management of the patient must be multidisciplinary and supportive in nature, involving extensive and non-directive pregnancy counselling and management, genetic counselling and management of psychological distress.

Chorionic villus sampling fails to confirm mosaic trisomy 21 fetus after positive cell-free DNA

2017 ◽  
Vol 37 (3) ◽  
pp. 296-298 ◽  
Author(s):  
Kristen Uquillas ◽  
Yen Chan ◽  
Jennifer R. King ◽  
Linda M. Randolph ◽  
Marc Incerpi
Keyword(s):  
Trisomy 21 ◽  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Cell Free Dna ◽  
Free Dna ◽  
Mosaic Trisomy

False-negative results of trisomy 21 on direct analysis on chorionic villus sampling

1998 ◽  
Vol 18 (8) ◽  
pp. 866-867 ◽  
Author(s):  
R. Saura ◽  
D. Roux ◽  
B. Maugey-Laulon ◽  
L. Taine ◽  
Z. Q. Wen ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
False Negative ◽  
Chorionic Villus ◽  
Direct Analysis ◽  
Chorionic Villus Sampling ◽  
Negative Results ◽  
False Negative Results

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.

The Outcome of Twin Pregnancies Discordant for Trisomy 21

2013 ◽  
Vol 17 (1) ◽  
pp. 38-44 ◽  
Author(s):  
Eleanor Egan ◽  
Karen Reidy ◽  
Laoise O'Brien ◽  
Romany Erwin ◽  
Mark Umstad
Keyword(s):  
At Risk ◽  
Trisomy 21 ◽  
Chorionic Villus ◽  
Successful Outcome ◽  
Chorionic Villus Sampling ◽  
Premature Labor ◽  
Parental Preference ◽  
Monochorionic Twin ◽  
Twin Pregnancies

The management of twin pregnancies discordant for trisomy 21 is dependent on the gestation at diagnosis, chorionicity, and parental preference. Our experience with the management of 15 cases in 1,839 twin pregnancies over a 12-year period is described. Selective termination is not always associated with a successful outcome for the normal co-twin. Two of the three monochorionic twin pregnancies affected by trisomy 21 were discordant. Amniocentesis should be strongly considered rather than chorionic villus sampling in monochorionic twin pregnancies. Pregnancies that continue with a trisomy 21 affected fetus are at risk of polyhydramnios and premature labor.

scholarly journals Discordant structural chromosomal aberrations in chorionic villi and amniotic fluid leading to a formation of an isochromosome 21: a case report

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Eini Westenius ◽  
Maria Pettersson ◽  
Erik Björck
Keyword(s):  
Amniotic Fluid ◽  
Chromosomal Aberrations ◽  
Trisomy 21 ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Chorionic Villus Sampling ◽  
Chorionic Villi ◽  
Non Invasive ◽  
Increased Risk ◽  
A Cell

Abstract Background Fetoplacental discrepancies occur in approximately 1–2% of analyzed prenatal cases. They are typically due to confined placental mosaicism, where an aberration is observed in the placental cells but not found in the fetal cells. Confined placental mosaicism usually involves aneuploidies and more sparsely structural chromosomal aberrations. To the best of our knowledge, this is the first reported case of a discrepancy in the analyses of chorionic villus sampling and amniocentesis involving two different structural chromosomal aberrations of chromosome 21. Case presentation We report a 33-year-old woman who was referred for a non-invasive prenatal testing due to an increased risk of trisomy 21 gleaned from a combined ultrasound and blood test. The non-invasive prenatal testing showed an increased risk of trisomy 21 with a normalized coverage signal that did not match the fetal cell-free DNA fraction. Rapid aneuploidy detection performed on uncultured chorionic villi indicated mosaicism for trisomy 21. The follow-up analyses revealed discordant chromosomal aberrations: 46,XY,der(21)t(10;21)(p11.21;q10) in the analysis of the chorionic villus sampling and 46,XY, + 21,der(21;21)(q10;q10) in the analysis of the amniocentesis. Thus, the analyses indicated mosaicism for a cell line containing trisomy 21 and a cell line containing a partially duplicated short arm of chromosome 10 in the chorionic villi and complete trisomy 21 resulting from an isochromosome 21 in the amniotic fluid. The analyses of the lymphocytes and the fibroblasts of the woman were normal. Conclusions We propose a multiple-step mechanism as a possible theoretical explanation for the formation of these discordant structural chromosomal aberrations in the chorionic villi and amniotic fluid. With this case report, we want to highlight the importance of understanding the possible underlying embryological mechanisms when interpreting results from different prenatal analyses.

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.

Early ultrasound prenatal diagnosis of the Meckel — Gruber syndrome in combination with 47,XYY

2018 ◽  
Author(s):  
N.P. Veropotvelyan , E.S. Savarovskaya , T.V. Usenko
Keyword(s):  
Prenatal Diagnosis ◽  
Chorionic Villus ◽  
Autosomal Recessive Disorder ◽  
Chorionic Villus Sampling ◽  
Previous Pregnancy ◽  
Cystic Kidneys ◽  
Occipital Encephalocele ◽  
Posterior Fossa Cyst ◽  
The Family ◽  
Hands And Feet

Meckel — Gruber syndrome (MGS) is a rare lethal autosomal recessive disorder characterised by occipital encephalocele, polydactyly and bilateral dysplastic cystic kidneys. A case of prenatal diagnosis of MGS at 12 weeks of gestation is described. The previous pregnancy was terminated at 20 weeks due to polycystic kidneys of the fetus. The transabdominal scan of the present pregnancy revealed occipital encephalocele of the fetus. There was no oligohydramnios, but the fetal urinary bladder was not visualised and both kidneys were enlarged. The transvaginal sonogram demonstrated intracranial space dilatation (6 mm) and encepalocele with posterior fossa cyst, protrunding from the occipital bone deffect. The kidneys had the polycystic structure suggesting cystic dysplasia and there was no evidence of the hands and feet polydactyly. Based on these findings the diagnosis of the MGS was made. Chorionic villus sampling revealed 47,XYY. The family elected to terminate pregnancy and the diagnosis was confirmed by autopsy.

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