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.

Fetal loss after chorionic villus sampling in twin pregnancies

2021 ◽  
Author(s):  
T. Elger ◽  
R. Akolekar ◽  
A. Syngelaki ◽  
C. De Paco Matallana ◽  
F. S. Molina ◽  
...  
Keyword(s):  
Chorionic Villus ◽  
Fetal Loss ◽  
Chorionic Villus Sampling ◽  
Twin Pregnancies

Fanconi Anemia: Prenatal Diagnosis in 30 Fetuses at Risk

PEDIATRICS ◽  
1985 ◽  
Vol 76 (5) ◽  
pp. 794-800
Author(s):  
Arleen D. Auerbach ◽  
Michal Sagi ◽  
Barbara Adler
Keyword(s):  
At Risk ◽  
Prenatal Diagnosis ◽  
Fanconi Anemia ◽  
Chorionic Villus ◽  
Chromosome Breakage ◽  
The Other ◽  
Chorionic Villus Sampling ◽  
Chromosomal Breakage ◽  
Born Infant ◽  
In Cells

We report our experience, since 1978, with prenatal diagnosis in fetuses at risk for Fanconi anemia. Amniotic fluid cells from 30 fetuses from 24 families were monitored for baseline and diepoxybutane-induced chromosomal breakage. Seven of the fetuses at risk were diagnosed as affected; baseline and diepoxybutane-induced breakage ranged from 0.18 to 0.45 and 0.69 to 0.96 breaks per cell, respectively. The range of baseline and diepoxybutane-induced chromosomal breakage in amniocytes from the 23 pregnancies at risk that were diagnosed prenatally as unaffected ranged from 0 to 0.08 and 0 to 0.13 breaks per cell, respectively. Four of these cases were also diagnosed as normal on the basis of chromosomal breakage studies in cells obtained by chorionic villus sampling. The range of baseline and diepoxybutane-induced breakage in cells from five control fetuses was 0 to 0.05 and 0 to 0.10 breaks per cell, respectively. Of the pregnancies diagnosed as affected, two were carried to term, whereas five were terminated. One newborn and two abortuses had congenital malformations including abnormalities of the thumb and radius. The other affected live-born infant, now 5½ years old, has severe growth retardation and pancytopenia. No Fanconi anemia-associated malformations were found in any of the other fetuses or newborns studied. In all cases in which tissue was available for study, diagnoses were confirmed by chromosome breakage studies. This method thus permits reliable detection of Fanconi anemia.

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 by rigid forceps: Experience with 300 cases at risk for thalassemia major

1987 ◽  
Vol 156 (4) ◽  
pp. 912-914 ◽  
Author(s):  
Giovanni Monni ◽  
Rosa Maria Ibba ◽  
Giovanni Olla ◽  
Cristina Rosatelli ◽  
Antonio Cao
Keyword(s):  
At Risk ◽  
Chorionic Villus ◽  
Thalassemia Major ◽  
Chorionic Villus Sampling

Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: A case report

1990 ◽  
Vol 36 (4) ◽  
pp. 449-450 ◽  
Author(s):  
Leen Pijpers ◽  
Wim J. Kleijer ◽  
Annette Reuss ◽  
Milena G. J. Jahoda ◽  
Frans J. Los ◽  
...  
Keyword(s):  
At Risk ◽  
Case Report ◽  
Multiple Pregnancy ◽  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Argininosuccinic Aciduria

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.

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