Parental karyotype may reveal the source of a pregnancy loss even in the presence of a reportedly euploid fetal karyotype.
OBJECTIVE
To present a case of a fetal loss in which a normal fetal karyotype was obtained by banding studies. Identification of an abnormal maternal karyotype prompted subsequent reanalysis using fluorescence in situ hybridization (FISH).


METHODS
Case report.


METHODS
University-affiliated IVF center.


METHODS
A 32-year-old woman, G1 P0, underwent a fetal loss at 8 weeks, and a suction curettage was performed. The patient had a previous first-trimester loss.


METHODS
The fetal tissue was evaluated by banding studies and found to be normal. Parental karyotyping was performed, and the fetal tissue was reanalyzed by FISH.


METHODS
Analysis of fetal karyotype by targeted FISH.


RESULTS
Maternal karyotype demonstrated a translocation [46,XX, t(8;10)(q24.3:q25.2)]. The fetal tissue was reanalyzed by FISH, and a segment of chromosome 10 was found on chromosome 8.


CONCLUSIONS
A normal fetal karyotype, as measured by banding, does not exclude a genetic etiology for pregnancy loss. In this case, maternal translocation prompted the genetics laboratory to search for a small segment of translocated extra chromosomal material. This demonstrated that despite the finding of a normal fetal karyotype, in some cases parental karyotyping may have value.
Department of Obstetrics and Gynecology, Mount Sinai Medical Center, New York, New York 10022, USA. lgrunfeld@rmany.com
Lawrence
L
Grunfeld
Benjamin
B
Sandler
Tanmoy
T
Mukherjee
Alan B
AB
Copperman
D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D002879:Chromosomes, Human, Pair 10; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010290:Parents; D011247:Pregnancy; D014178:Translocation, Genetic