Genetic amniocentesis: 505 cases performed before the sixteenth week of gestation

Stripparo, L.; Buscaglia, M; Longatti, L.; Ghisonl, L.; Dambrosio, F; Guerneri, Silvana; Rosella, F.; Lituania, Mario; Cordone, M; Biasio, Pierangela De; Passamonti, Ubaldo; Gimelli, Giorgio; Cuoco, Cristina

doi:10.1002/pd.1970100603

Cited by 47 publications

(21 citation statements)

References 5 publications

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“…Moreover, our results do not apparently differ from those of the trials comparing CVS with midtrimester amniocentesis (Canadian Collaborative CVS-Amniocentesis Clinical Trial Group, 1989;Rhoads et al, 1989;Smidt-Jensen et al, 1992;Ammala et al, 1993). CVS procedure-related risks remained low in the population sampled at 13-14 and 15 or more gestational weeks; the total fetal loss rate values compare favourably to traditional mid-trimester (0·47 per cent vs. 1·0-1·57 per cent) (Rhoads et al, 1989;Smidt-Jensen et al, 1992; MRC Working Party on the Evaluation of Chorionic Villus Sampling, 1991) or early (13-14 weeks) amniocentesis (0·85 per cent vs. 1·37-2·74 per cent) (Elejalde et al, 1990;Hanson et al, 1990;Nevin et al, 1990;Penso et al, 1990;Stripparo et al, 1990;Elias and Simpson, 1993;Crandall et al, 1994). The number of sampling device insertions, one or two, did not influence the pregnancy outcome either in the transabdominal (3·2 per cent vs. 3·2 per cent) or in the transcervical (4·6 per cent vs. 5·29 per cent) cases.…”

Section: Discussionmentioning

confidence: 98%

First 10 000 chorionic villus samplings performed on singleton pregnancies by a single operator

et al. 1998

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Chorionic villus sampling (CVS) was performed in 10 000 consecutive singleton pregnancies by a single principal operator, working in two institutions. The procedure was performed between 8 and 32 gestational weeks: transabdominal (TA) sampling was carried out in 8479 cases and transcervical (TC) in 1521. Patients were referred for chromosomal risk in 89·1 per cent of cases, Mendelian disorders in 10·5 per cent, and DNA investigations for paternity or infectious agents in 0·4 per cent of cases. The sampling success rate for both TA and TC techniques by the second insertion was 99·8 and 99·2 per cent, respectively. TA sampling succeeded in a higher number of cases at the first insertion (98 per cent vs. 86·8 per cent) and was associated with smaller samples (<10 mg) in fewer cases (3·2 per cent vs. 4·9 per cent). Cytogenetic analysis was highly successful (99·4 per cent) and accurate; however, in one case a de novo structural rearrangement of chromosome 1 was not recognized. Mosaicism or rare trisomies were reported in 1·30 per cent of cases. Five diagnostic errors in DNA investigation (0·51 per cent) ended with the birth of affected fetuses. Fetal loss through 28 weeks' gestation in the pregnancies intended to continue was 2·58 per cent; the rate increased with maternal age (1·22 per cent at less than 30 years to 3·8 per cent at 40 years or more), while gestational age affected the abortion rate only at 8 weeks (odds ratio=2·22, P<0·05). Rates of premature delivery, low birth weight, and perinatal mortality did not differ from the Italian standards. By comparison with the Italian Birth Defects Registry data, no differences were found for the major malformations, including transverse limb reduction defects (TLRDs) (4·34 vs. 3·28×10 000). Total malformations and TLRDs did not show any pattern relation to either maternal age or gestational age. © 1998 John Wiley & Sons, Ltd.

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Section: Discussionmentioning

confidence: 98%

First 10 000 chorionic villus samplings performed on singleton pregnancies by a single operator

et al. 1998

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“…En total, la frecuencia de pérdidas fue del 4,9%. Otros estudios encontraron frecuencias más bajas, situadas en tormo del 4% (16), un 3,0% (17)(18)(19) o un 2,5% (5,20). Sin embargo, Schulman (21) encontró una frecuencia semejante (un 4,7%) y Nagel (11) reportó una frecuencia mayor (6,2%).…”

Section: Discussionunclassified

“…La frecuencia de pérdida gestacional decrece de un 8,3% (3/36) en la semana doce para un 6,5% (15/231) en la semana trece y un 1,8% (3/165) en la semana catorce. Al agrupar los resultados de varias series de la literatura, las pérdidas fetales espontáneas se situaron alrededor del 6,2% en 81 casos realizados entre las semanas diez y once de gestación y cayeron para un 2,3% en 1.558 casos realizados entre las semanas doce y trece (5,7,13,17,27,28). En un estudio randomizado, la frecuencia de pérdida fetal espontánea fue también significativamente mayor en edades gestacionales más precoces: un 5,4% entre la semana diez y la once y un 4,0% entre la semana doce y trece (9).…”

Section: Discussionunclassified

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Evaluación de la Amniocentesis Precoz en una Institución Brasileña de Diagnóstico Prenatal

Parra

2012

nova

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“…± 13. SSW) schneidet die Chorionzottenbiopsie sogar deutlich besser ab[4,14,19,20]. Die Frühamniozentese stellt für uns nicht nur wegen des im Vergleich zur Chorionbiopsie höheren Abortusrisikos, sondern auch wegen der gröûeren Kulturversagerrate und der längeren Kulturzeit keine Alternative zur Chorionzottenbiopsie dar[20].Die sehr hohe Zuverlässigkeit der Chromosomenanalysen in unserem Kollektiv wird durch die simultane Anwendung von Direktpräparation und Langzeitkultur, die bei uns seit 1994 routinemäûig zur Anwendung gelangt, gewährleistet[8].Diese erwähnten Vorteile werden mit einer geringfügig erhöhten Rate an notwendigen Zweiteingriffen bei nicht eindeutigen Befunden erkauft[1].…”

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Retrospektive Analyse von 1030 Chorionzottenbiopsien in Linz - Methodik, Risiken und Ergebnisse

Arzt¹,

Stock²,

Aigner³

2001

Geburtsh u Frauenheilk

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ZusammenfassungFragestellung: 1030 Chorionzottenbiopsien (CVS), die am Department für Pränatalmedizin der Landesfrauenklinik Linz durchgeführt worden waren, wurden einer retrospektiven Analyse unterzogen. Methoden: Die 1030 Eingriffe ± 781 im 1.Trimenon (¹early CVSª), 249 im 2. + 3. Trimenon (¹late CVSª) ± wurden hinsichtlich Indikationen, Zugangsweg, Anzahl der Aspirationen, Erfolgsraten bei der Gewebsentnahme, Eingriffsrisiko, zytogenetischer bzw. molekulargenetischer Ergebnisse untersucht. Ergebnisse: Die Abortrate betrug nach CVS im 1.Trimenon 2,4 % ± dies ist nur geringfügig höher als die Spontanabortrate in der 10./11. SSW ±, nach ¹late CVSª 1,2 %. In 96 % war die Gewebsentnahme erfolgreich. Die Rate an pathologischen Befunden lag insgesamt bei 7 %. Schlussfolgerungen: Die Chorionzottenbiopsie stellt eine sichere und rasche Methode für pränatale Chromosomenanalysen und molekulargenetische Abklärungen dar.Schlüsselwörter: Chorionzottenbiopsie ± Methodik ± Indikationen ± Zugangsweg ± Erfolgsrate ± Risiko ± Ergebnisse Summary Objective: The objective of this study was to assess the safety and results of chorionic villous sampling. Methods: We reviewed the indications, techniques, number of aspirations, success rates in obtaining specimens, risks and cytogenetic and molecular results of 781 early (first trimester) and 249 late (second and third trimester) chorionic villous sampling procedures performed at our institution. Results: Sampling was successful in 96 % of procedures. The fetal loss rate after early and late chorionic villous sampling was 2.4 % and 1.2 %, respectively. Abnormal results were found in 7 % of tests. Conclusions: The fetal loss rate after early CVS was only marginally higher than the spontaneous abortion rate in the tenth to eleventh week of pregnancy. Chorionic villous sampling is a safe and prompt technique for prenatal diagnosis.

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Genetic amniocentesis: 505 cases performed before the sixteenth week of gestation

Cited by 47 publications

References 5 publications

First 10 000 chorionic villus samplings performed on singleton pregnancies by a single operator

First 10 000 chorionic villus samplings performed on singleton pregnancies by a single operator

Evaluación de la Amniocentesis Precoz en una Institución Brasileña de Diagnóstico Prenatal

Retrospektive Analyse von 1030 Chorionzottenbiopsien in Linz - Methodik, Risiken und Ergebnisse

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