Cordocentesis for Rapid Karyotype: 421 Consecutive Cases

Donner, Cathérine; Rypens, Françoise; Paquet, V.; Cohen, Emily; Delneste, Danielle; Regemorter, N. Van; Vamos, Esther; Avni, Fred E.; Rodesch, Frédéric

doi:10.1159/000264235

Cited by 19 publications

(23 citation statements)

References 25 publications

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“…Nevertheless, late karyotyping may help to define the obstetric management and may be relevant for genetic counselling in future pregnancies. Fetal loss related to FBS has been reported in 1-2% of pregnancies [4,19], being 1.8% in our center (unpublished data). Given that it is a standard practice to recommend amniocentesis in pregnant women over 34 years, with an at least 1.3% estimated risk of chromosomal anomalies at midtrimester [20], and 1% risk of fetal loss related to the procedure, it seems reasonable to offer cordocentesis when a fetal malformation is detected (8-50% risk of chromosomal anomaly) in more advanced pregnancies.…”

Section: Alive and Normal Phenotype Cytogenetic Studies In Fetal Bloodsupporting

confidence: 52%

“…Fetal blood sampling (FBS), introduced initially to diagnose fetal infection or hemathologic diseases [1], is increasingly being used in the second half of gestation as a technique for rapid karyotyping in pregnancies in which a malformed fetus is detected [2][3][4] or to confirm a cytogenetic result [5][6][7]. Clear advantages over amniocentesis and chorionic villus sampling are a shorter turn-around time and higher accuracy.…”

Section: Introductionmentioning

confidence: 99%

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Cytogenetic Studies in Fetal Blood

Costa

Borrell²,

Soler³

et al. 1998

Fetal Diagn Ther

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In order to assess the effectiveness and reliability of cytogenetic diagnosis provided by fetal blood, we report the first 186 cases of fetal blood sampling performed for rapid karyotype between 19–37 weeks of pregnancy in our Prenatal Diagnosis Unit. The overall diagnostic success rate was 98%, achieving 100% in the last period of the study. Chromosomal anomalies were detected in 16% (29/182) of the fetuses. In malformed fetuses this rate increased from 8–9% in isolated malformation or markers of aneuploidy to 50% in multiple malformations. In pregnancies in which a previous cytogenetic study in amniotic fluid was inconclusive, fetal blood made it possible to obtain a definitive result, with no discrepancies found at phenotypic follow-up examination. Interestingly enough, one of the four previously defined as pseudomosaicisms was found to be a non-mosaic in fetal blood, and only 1 of 4 mosaicisms was confirmed in fetal blood. In conclusion, cytogenetic analysis of fetal blood samples appears to be effective, rapid and reliable to establish the fetal karyotype in selected cases.

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Section: Alive and Normal Phenotype Cytogenetic Studies In Fetal Bloodsupporting

confidence: 52%

Section: Introductionmentioning

confidence: 99%

Cytogenetic Studies in Fetal Blood

Costa

Borrell²,

Soler³

et al. 1998

Fetal Diagn Ther

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“…This prenatal procedure has been well accepted as an efficient and relatively safe procedure and has permitted new insight into fetal medicine. A variety of indications for cordocentesis have been reported, especially rapid karyotype, fetal hemolytic disease and severe, early-onset growth restriction as well as fetal infection [2,3,4,5,6]. Unlike in the Western countries, cordocentesis in our practice for more than 20 years is most commonly indicated for fetal diagnosis of severe thalassemia syndrome, followed by rapid karyotype [7,8].…”

Section: Introductionmentioning

confidence: 99%

Effect of Umbilical Cord Bleeding following Mid-Pregnancy Cordocentesis on Pregnancy Outcomes

Tongsong

Khumpho²,

Wanapirak³

et al. 2012

Gynecol Obstet Invest

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Objectives: To compare the adverse pregnancy outcomes among the three groups of umbilical cord bleeding following cordocentesis; a group of no bleeding (group 1), transient bleeding (group 2), and persistent bleeding (>60 s: group 3). Methods: Consecutive cases of cordocentesis were prospectively recorded and followed up. The inclusion criteria for analysis consisted of (1) singleton pregnancies; (2) gestational age of 18–22 weeks; (3) no fetal anomalies; (4) no previous invasive procedures; (5) performed by experienced operators, and (6) known pregnancy outcomes. The main outcomes were rates of fetal loss, low birth weight and preterm birth. Results: Of 2,174 procedures, 1,614 were in group 1, 509 were in group 2, and 51 were in group 3. The mean birth weight and gestational age at delivery were significantly lower in group 3 than those in groups 1 and 2. The fetal loss rate was significantly higher in group 3. Rates of low birth weight and preterm birth were significantly higher in group 3 whereas the rates in group 2 had a tendency to be higher than those in group 1. Conclusion: This study suggests that cord bleeding during cordocentesis carries a higher risk of fetal loss, low birth weight and preterm birth.

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“…Fetal blood sampling is a well-established procedure for rapid karyotyping of fetuses with abnormal findings at prenatal ultrasound (Nicolaides et al, 1992;Den Hollander et al, 1994;Donner et al, 1995;Costa et al, 1998). From the cytogenetic point of view, contamination of the fetal blood sample with amniotic fluid is not important, since the origin of amniotic cells is similar to blood cells and, therefore, does not affect the final result (Forestier et al, 1988;Lazebnik et al, 1990;Chao et al, 1990).…”

Section: Discussionmentioning

confidence: 99%