The dilemma of chromosomal mosaicism in chorionic villus sampling--'direct' versus long-term cultures.
Chromosomal mosaicism is one of several unanswered dilemmas in first-trimester prenatal diagnosis. We report the course of a pregnancy in which a normal karyotype was detected on direct CVS preparation and fetal blood, 100 per cent trisomy 21 in one long-term CVS culture, and low-rate trisomy 21 mosaicism in a second long-term CVS culture and amniocentesis. The phenotypically normal infant had a 6 per cent mosaicism of trisomy 21. It appears that a persistent low-rate mosaicism in different tissues may be indicative of the true status of the fetus.
Nisani
R
R
Clinical Genetics Unit, Kaplan Hospital, Rehovot, Israel.
Chemke
J
J
Voss
R
R
Appelman
Z
Z
Caspi
B
B
Lewin
A
A
Dar
H
H
Reiter
A
A
D000328:Adult; D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005312:Fetal Blood / Q000032:analysis; D006801:Humans; D009030:Mosaicism; D011247:Pregnancy