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

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.

Prenatal diagnosis of trisomy 20 by chorionic villus sampling (CVS): a case report with long-term outcome

2001 ◽  
Vol 21 (13) ◽  
pp. 1111-1113 ◽  
Author(s):  
Nancy Steinberg Warren ◽  
Shirley Soukup ◽  
Jennifer L. King ◽  
Peter St. J. Dignan
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Term Outcome ◽  
Long Term Outcome

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

Trisomy 8 mosaicism in chorionic villus sampling: Case report and counselling issues

1994 ◽  
Vol 14 (6) ◽  
pp. 451-454 ◽  
Author(s):  
Jana Klein ◽  
John M. Graham ◽  
Lawrence D. Platt ◽  
Rhona Schreck
Keyword(s):  
Case Report ◽  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Trisomy 8

Clinical characteristics and outcomes of pregnancy after invasive prenatal testing in women with multiple pregnancy

2021 ◽  
Author(s):  
O.V. Pribushenya
Keyword(s):  
Clinical Characteristics ◽  
Birth Rate ◽  
Comparison Group ◽  
Multiple Pregnancy ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Chorionic Villus Sampling ◽  
Delivery Time ◽  
Pregnancy And Childbirth ◽  
Retrospective Assessment

Retrospective assessment of the obstetric and gynecological history, gravidity, parity and complications of the current pregnancy in women who underwent amniocentesis (AC) and chorionic villus sampling (CVS) are presented. The features of invasive prenatal procedures (IPP), as well as the outcomes of pregnancy and childbirth were studied. The frequency of spontaneous abortion (SA) after AC was 2.90 ± 2.05%, during CVS — 2.80 ± 2.82%, in the comparison group (GC) (1.10 ± 1.07%, p > 0.017). There were no statistically significant differences in invasive prenatal diagnostics in the 1st and 2nd trimesters in multiple and single pregnancies. AC and CVS do not affect the average delivery time (CVS — 37.0 (34.0–38.0) weeks, AC — 36.0 (34.0–38.0) weeks, GS — 36.0 (34.0–37.0) weeks, p > 0.017), weight of newborns (CVH — 2440.0 (1960.0–2845.0) g, AC — 2600.0 (1850.0–2760.0) g, GS — 2325.0 (1800.0–2740.0) g, p > 0.017). IPP do not increase the preterm birth rate at 23–36 weeks' gestation (CVH — 41.40 ± 9.15%, AC — 51.60 ± 6.36%, GS — 54.40 ± 5.19%, p > 0.017) and does not increase perinatal mortality.

scholarly journals Atopobium Vaginae Bacteremia with Fetal Loss after Chorionic Villus Sampling: A Case Report

2021 ◽  
Vol 9 (12) ◽  
pp. 734-738
Author(s):  
Dieuwertje Horsten ◽  
Lore Noben ◽  
Laura van Dommelen ◽  
Carolien A.M. Koks
Keyword(s):  
Case Report ◽  
Chorionic Villus ◽  
Fetal Loss ◽  
Chorionic Villus Sampling ◽  
Atopobium Vaginae

scholarly journals Molecular analysis and prenatal diagnosis of β thalassemias in the Saurashtra region of Gujarat

2020 ◽  
Vol 7 (5) ◽  
pp. 1977
Author(s):  
Varsha P. Sorathiya ◽  
Roshan B. Colah ◽  
Nishith A. Vachhani ◽  
Sanjeev L. Nandani ◽  
Daya J. Vekariya ◽  
...  
Keyword(s):  
At Risk ◽  
Prenatal Diagnosis ◽  
Dna Analysis ◽  
Tissue Sample ◽  
Chorionic Villus ◽  
Thalassemia Major ◽  
Chorionic Villus Sampling ◽  
Western India ◽  
Hemoglobin E ◽  
Significant Health

Background: Hemoglobinopathies pose a significant health burden in the Saurashtra region in western India. Identifying couples at- risk of having a child with a severe hemoglobin disorder prenatally can help in counseling with the option of prenatal diagnosis.Methods: All pregnant carriers of β thalassemia were advised to screen their husbands. If both were carriers, they were counselled to undergo prenatal diagnosis. Prenatal diagnosis was done in 174 couples. Chorionic villus sampling was done at 10 to 12 weeks gestation and the tissue sample was sent to the Genetic laboratory for DNA analysis along with blood samples of the parents. If the couple came after 14 weeks of pregnancy, amniocentesis was done and amniotic fluid was sent for DNA analysis. If the fetus was affected, the option of termination of the pregnancy was given.Results: In 50.5% of couples, the fetus was a carrier of β thalassemia, in 1.7% the fetus had hemoglobin E trait and in 23.0% the fetus was normal.  In 20.6% of couples, the fetus had β Thalassaemia major and after counseling, these couples opted for termination. 1.2% of couples had a fetus which was unaffected but remained in distinguished (normal/thalassemia carrier) while in 0.6% of cases the fetus had sickle-β thalassemia. In 1.2% of cases the result was inconclusive. In 1.2% of cases the results were not available for lack of follow up.Conclusions: Screening antenatal women for identifying carriers and referring couples at-risk for prenatal diagnosis helped in preventing the birth of 36 thalassemia major children.

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