Cytogenetic findings in 1250 chorionic villus samples obtained in the first trimester with clinical follow-up of the first 1000 pregnancies.
First-trimester chorionic villus sampling (CVS) was performed in a series of 1250 pregnancies. The direct method of karyotyping was successful in 1205 (96.4%). Abnormal laboratory findings resulted in 60 terminations of pregnancy (4.8%). In addition, six unexpected balanced chromosome rearrangements were detected. False-positive cytogenetic findings occurred in 2.3%, comprising 22 with mosaicism confined to the trophoblast, and a further six non-mosaic false-positive discrepancies were detected, four after termination of pregnancy. The outcome of the first 1000 pregnancies is known in all but one. There were no false-negative findings. Of 947 pregnancies meant to be continued, 34 (3.6%) ended in pregnancy loss before 28 weeks gestation. However, obstetricians with an experience of over 150 procedures had a pregnancy loss of 1.3%.
Leschot
N J
NJ
University of Amsterdam, Academic Medical Centre, The Netherlands.
Wolf
H
H
Van Prooijen-Knegt
A C
AC
van Asperen
C J
CJ
Verjaal
M
M
Schuring-Blom
G H
GH
Boer
K
K
Kanhai
H H
HH
Christiaens
G C
GC
D000328:Adult; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations / Q000175:diagnosis*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D005189:False Positive Reactions; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007621:Karyotyping; D008423:Maternal Age; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis*; D018566:Pregnancy, High-Risk