rapid prenatal detection of aneuploidies by fluorescent polymerase chain reaction
TRANSCRIPT
Volume 178, Number 5AmJ Obstet Gynecol
tween fetal Sp02 and scalp blood pH in fetuses with uneventful neonatal outcome-as did Szabo et al.-is thusnot sufficient. Large randomized controlled trials arenecessary to validate pulse oximetry as a tool for fetalmonitoring in clinical practice.
Bruno Carbonne, MD, Francois Goffinet, MD, BrunoLanger; MD, and theFrench Study Group on Fetal Pulse
OximetryDepartment of Obstetrics and Gynecology, Hbpital Saint-Antoine,F 75012 Paris, France
REFERENCES
1. Carbonne B, Cudeville C, Sivan H, Cabrol D, Papiernik E. Fetaloxygen saturation measured by pulse oximetry during labourwith clear or meconium-stained amniotic fluid. Eur] ObstetGynecol Reprod Bioi 1997;72 Suppl1:S51-5.
2. Carbonne B, Maillard F, Langer B, Goffinet F, Cudeville C,Tardif D, et al. Meconium aspiration in fetuses monitored withcardiotocography, scalp blood analysis and pulse oximetry during labor: what is relevant? [abstract]. In: Proceedings of theThird World Congress of Perinatal Medicine; 1996 Oct 20-24;San Francisco, California. San Francisco: The Congress; 1996. p.44.
3. Johnson N,Johnson VA,Bannister,], McNamara H. The effectof meconium on neonatal and fetal reflectance pulse oximetry.JPerinat Med 1990;18:351-5.
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Rapidprenatal detection of aneuploidies by fluorescent polymerase chain reactionTo the Editors: Pert! et al. (Pertl B, Kopp S, Kroisel PM,Hausler M, Sherlock], Winter R, et al. Quantitative fluo
rescence polymerase chain reaction for the rapid prena
tal detection of common aneuploidies and fetal sex. Am]Obstet Gynecol 1997;177:899-906) have recently re
ported a multiplex fluorescent polymerase chain reac
tion (PCR) technique for the rapid prenatal detection of
common aneuploidies.We have read this article very carefully because the au
thors' previous report contained a very serious error in achromosome 21 marker (D21S1414). Although our criticism article! concerning that mistake will be availablesoon, we must also bring this to the attention of the readers of this journal because Pertl et al. have repeated theirserious mistake in this study. Not only have they repeatedthe mistake by using the wrong marker, they also have
presented inconsistent data, which casts doubt on their
results and on the fluorescent PCR technique.
Because we work in a similar field,2 we screened sev
eral STR markers on chromosome 21 to amplify fetal de
oxyribonucleic acid isolated from amniotic fluid to detect chromosomal aneuploidies in multiplex fluorescent
PCR. Our results, with use of additional markers, will be
presented soon. It was during this screening that the homology between the two D21 markers used by Pertl et al.
was found.Pertl et al. used four chromosome 21 markers, two of
Letters 1101
which are D2lSll and D21S1414. Previous studies--f have
shown that they are complementary and are actually the
same sequence. Rather than two primer pairs amplifyingtwo independent STR markers and thus providing con
firmation of each other, the two primer sets used by Pertlet al. (D2ISll and D21S1414) amplify the same repeat se
quence and must provide the same profile. The only dif
ference in these two primer sets is a slightly different po
sition in the sequence, which is not linked to the
repeating section.
However, the main problem with the report ofPertl et
al. is that they published different data regarding these
two markers. Because D2IS11 and D2lS1414 markers
must give the same results, the number of heterozygous
and homozygous patients must also be the same for thesetwo markers. However, these authors reported different
numbers in normal blood samples, normal amniotic
fluid, and even in trisomy 21 samples.Because the evidencel- 3 shows that D2lS11 and
D21S1414 are the same and therefore must provide the
same results, the reported data are only acceptable if the
authors can present different results for the two markers
from the same sample. In our experience the fluorescent
PCR technique is very reliable and could not cause those
mistakes. Therefore a different explanation is required
from the authors.Tamas tsa; MD, and ZoUcin Papp, DSc
Department of Obstetrics and Gynecology, Semmelweis UniversityMedical School, Baross u. 27, Budapest, H-1088, Hungary
Ian Findlay, PhDMolecular Oncology, Institute of Pathology, Algernon Firth Building,University of Leeds, Leeds, United Kingdom LS2 9LN
REFERENCES
1. T6th T, Findlay I, Nagy B, Quirke P, Papp Z. Prenatal detectionof trisomy 21 by fluorescent polymerase chain reaction: importance of primer selection and criticism of an earlier report.Hum Genet 1997;101:383.
2. T6th T, Findlay I, Papp C, Toth-Pal E, Marton T, Nagy B, et al.Prenatal detection of trisomy 21 and 18 from amniotic fluid byquantitative fluorescent polymerase chain reaction. ] MedGenet 1998;35:126-9.
3. Utah Marker Development Group. A collection of orderedtetranucleotide-repeat markers from the human genome. Am]Hum Genet 1995;57:619-28.
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ReplyTo theEditors: We are and have been aware for years that
the D21S11 and D21S1414 primers amplify the same re
gion of chromosome 21. However, far from being a "serious mistake," we have decided to include both primers in
the multiplex assays to provide further evidence of any
detectable aneuploidy. Some of the observed discrepan
cies suggest a possible polymorphism in the adjacent deoxyribonucleic acid regions and do not invalidate our results. Findlay et al. continue to miss the fact that we use