Prenatal invasive testing: a 13-year single institution experience

Comas, Carmen; Echevarría, M.; Rodríguez, Ignacio; Serra, Bernat; Cirigliano, Vincenzo

doi:10.3109/14767058.2013.855893

Cited by 10 publications

(6 citation statements)

References 19 publications

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“…Type and rate of numerical or structural chromosomal abnormalities found were similar to that of several previous studies [ 25 , 26 ]. Numerical anomalies were found in twenty cases and included ten trisomy 21, four trisomy 18, four monosomies X, one trisomy 20 and one triploidy.…”

Section: Resultssupporting

confidence: 90%

“…In the period under study, average maternal age of our population, at pregnancy, increased from 27 to 32 years [ 23 ]. AMA has currently been dropped as indication for invasive PND; nevertheless, maternal age was our main referral until 1997 and according to published studies it is the only etiological factor that correlates with frequency of aneuploidies [ 25 ]. Among the 28 chromosomal abnormalities and the 81 monogenic disorders detected, comparison of maternal age at sampling revealed that similar results were observed in the two groups and both are below what was considered advanced maternal age (cut-off 35 years), indicating an a priori low risk population ( Table 1 ).…”

Section: Resultsmentioning

confidence: 99%

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A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis

Jorge

Mota-Freitas

Santos

et al. 2014

JCM

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This report describes the trends of chorionic villus sampling (CVS) referred for prenatal genetic diagnosis in the past two and a half decades in a Portuguese Center. Our cohort of 491 CVS was mostly performed by the transcervical method at the 12th gestational week. Data collected within the framework of this study relate to the following: sampling method, referral reason versus abnormality and incidence of procedure-related pregnancy loss, that declined to about 0.5% over the last 15 years. The year 2000 represented a change in referral reasons for chorionic tissue collection, shifting from almost exclusively for cytogenetic testing to an increasing number of molecular tests for monogenic disorders. Herein, success rates as well as cytogenetic and/or molecular DNA results are presented. These latter include not only tests for several monogenic disorders, but also aneuploidy and maternal cell contamination screening. This retrospective analysis reiterates that CVS is a safe and reliable first trimester technique for prenatal diagnosis in high genetic risk pregnancies.

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Section: Resultssupporting

confidence: 90%

Section: Resultsmentioning

confidence: 99%

A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis

Jorge

Mota-Freitas

Santos

et al. 2014

JCM

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“…We observed a steady decline in PNDx after the introduction of FTS in 2000, in keeping with the global experience of this screening test. 7,26,27 The introduction of cfDNAbased screening in 2013 coincided with an unprecedented annual drop in invasive testing, suggesting a substantial impact of this technology as observed elsewhere. [7][8][9] The total number of prenatal diagnoses of trisomy 21 in Victoria more than doubled over the same period, providing evidence that the decline in invasive testing was not at the expense of reduced detection.…”

Section: Discussionmentioning

confidence: 92%

Population‐based trends in prenatal screening and diagnosis for aneuploidy: a retrospective analysis of 38 years of state‐wide data

Hui

Muggli

Halliday

2015

BJOG

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Objective To analyse population‐based trends over the entire history of prenatal testing for aneuploidy. Design Retrospective analysis of state‐wide data sets. Setting Australian state of Victoria with ~70 000 annual births. Population All pregnant women undergoing invasive prenatal testing at <25 weeks' gestation from 1976 to 2013. Methods Analysis of three state‐wide data sets: (1) Prenatal diagnosis data set of 119 404 amniocenteses and chorionic villus samplings from 1976 to 2013; (2) central serum screening laboratory data set from 1996 to 2013; (3) government birth statistics from 1976 to 2013. Main outcome measures Annual numbers and uptake rates of invasive prenatal tests and serum screening, indications for invasive prenatal testing, prenatal diagnoses of aneuploidy, diagnostic yield of invasive tests. Results Annual numbers of invasive prenatal tests climbed steadily from 1976, then declined from 2000. In 2013, the number of invasive prenatal tests was the lowest in 25 years, while the number of trisomy 21 diagnoses was the highest ever recorded. Annual uptake of serum screening climbed from 1.6 to 83% over 1996–2013. Results from 2013 showed a high diagnostic yield (15.8%) for a low rate of invasive testing (3.4% of births). Over four decades, the number of invasive procedures performed for each diagnosis of major chromosome abnormality declined from 100 to six. Conclusions This study demonstrates historic reductions in the proportion of women undergoing invasive testing and dramatic improvements in diagnostic yield. Monitoring the impact of new prenatal technologies on this progress remains an important research priority. Tweetable abstract Invasive prenatal testing has reached historic lows due to dramatic improvements in Down syndrome screening.

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“…Miscarriage, transient amniotic fluid leakage, fetal injury and intrauterine infection may occur [7,12,20]. It has to be emphasized that all forms of prenatal testing must be voluntary [21,22]. Zdr Publ 2015;125 (1) The most common indications for the procedure were: advanced maternal age -86 (36.2% of cases), improper ultrasound scan -71 patients (29.8%), improper biochemical screening tests -77 patients (32.6%) history of a child with a chromosomal abnormality -13 (5.7%).…”

Section: Resultsmentioning

confidence: 99%

Chromosomal abnormalities in a decade of prenatal testing at the Department of Obstetrics and Pathology of Pregnancy Medical University of Lublin

Krzyżanowski

Gęca

Kwiatek

et al. 2015

Polish Journal of Public Health

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Introduction.Chromosomal abnormalities, one of the leading causes of pregnancy complications, attract attention of both researchers and clinicians. They use two approaches to identify chromosomal abnormalities, namely screening and diagnostic tests. Ultrasonography is a very reliable screening and diagnostic tool, but the only way to determine if there are any chromosomal defects in the fetus, is performing one of invasive diagnostics tests chorionic villus sampling (CVS), cordocentesis or amniocentesis. Unfortunately, these invasive diagnostic procedures carry a potentially high risk of complications. Using amniocentesis means a procedure-related miscarriage risk at a rate of about 0.5-1%.Aim. The aim of this paper was to present our own experience, results in performing amniocentesis and a review of the literature.Material and methods. During a 10-year period 237 mid-trimester, transabdominal amniocenteses were performed.Results. The follow-up revealed one spontaneous abortion within seven days after the procedure. Premature delivery occurred in fourteen cases (two of them with chromosomal abnormalities). No neonatal deaths related to amniocentesis were noticed. Chromosomal abnormalities were detected in 33 patients.Conclusions. In the group with chromosomal abnormalities the main indications to perform amniocentesis were: improper ultrasound scan and the first trimester biochemical, noninvasive screening tests. This is a proof that modern, non-invasive procedures like the first-trimester ultrasound scan and biochemical tests should be made available to every pregnant woman and not only to mothers' aged >35 years or those with a poor obstetrics history.

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Prenatal invasive testing: a 13-year single institution experience

Cited by 10 publications

References 19 publications

A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis

A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis

Population‐based trends in prenatal screening and diagnosis for aneuploidy: a retrospective analysis of 38 years of state‐wide data

Chromosomal abnormalities in a decade of prenatal testing at the Department of Obstetrics and Pathology of Pregnancy Medical University of Lublin

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