Cystic hygroma and mid-trimester maternal serum screening.
OBJECTIVE
To investigate the relationship between maternal serum screening markers and pregnancy outcome in fetuses with cystic hygroma at 15-18 weeks of gestation.


METHODS
We retrospectively reviewed case-notes of 34 consecutive singleton fetuses with cystic hygroma referred at 15-18 weeks of gestation. All cases had maternal blood sampled for triple screening at the time of the ultrasound scan.


RESULTS
In total, 62% of fetuses with cystic hygroma had abnormal chromosome complements and 80% had a poor outcome. Six fetuses presenting normal values of human chorionic gonadotropin (0.5-2.5 MoM [multiples of the median]), serum alpha-fetoprotein (0.5-2.5 MoM) and unconjugated estriol (>0.5 MoM), normal karyotype and absence of associated structural anomalies had an uneventful outcome.


CONCLUSIONS
Our data demonstrated that cystic hygroma at 15-18 weeks has a strong association with chromosomal abnormalities. In euploid fetuses, maternal serum screening results may have a role in the diagnostic work-up of the pregnancy.
Celentano
Claudio
C
Department of Obstetrics and Gynecology, San Massimo Hospital, Penne, Italy. ccelen@tin.it
Prefumo
Federico
F
Iezzi
Irene
I
Guanciali-Franchi
Paolo Emilio
PE
Palka
Chiara
C
Liberati
Marco
M
Rotmensch
Sigfried
S
D000328:Adult; D015415:Biomarkers / Q000097:blood; D006063:Chorionic Gonadotropin / Q000097:blood; D002869:Chromosome Aberrations; D004964:Estriol / Q000097:blood; D005260:Female; D006801:Humans; D007621:Karyotyping; D018191:Lymphangioma, Cystic / Q000097:blood* / Q000175:diagnosis / Q000235:genetics; D008403:Mass Screening; D011247:Pregnancy; D011256:Pregnancy Outcome; D011262:Pregnancy Trimester, Second / Q000097:blood*; D012189:Retrospective Studies; D000509:alpha-Fetoproteins / Q000378:metabolism
D015415:Biomarkers; D006063:Chorionic Gonadotropin; D000509:alpha-Fetoproteins; D004964:Estriol