Cervical cystic hygroma in the fetus: Clinical spectrum and outcome

Langer, Jacob C.; Fitzgerald, Peter; Desa, D. J.; Filly, Roy A.; Golbus, Mitchell S.; Adzick, N. Scott; Harrison, Michael R.

doi:10.1016/s0022-3468(05)80164-2

Cited by 84 publications

(41 citation statements)

References 20 publications

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“…Correlation is between all single analyte values, absence of morphological anomalies, normal karyotype and uneventful outcome. Six out of seven cases presenting normal outcome had normal values of AFP, hCG and uE 3 . The last case presented elevated AFP with normal karyotype and fetal morphology.…”

Section: Discussionmentioning

confidence: 90%

“…[26][27][28] Our findings suggest that when a fetal cystic hygroma is diagnosed without associated structural defects or abnormal karyotype, the presence of values of triple screen analytes within the normal range (AFP 0.5-2.5 MoM, uE 3 >0.5 MoM, hCG 0.5-2.5 MoM) is correlated with a good prognosis. Furthermore, the comparison of single analyte values in euploid and aneuploid fetuses demonstrated lower levels of AFP and uE 3 , and higher levels of hCG, resulting in 11 out of 21 risk calculations above the cut-off in aneuploid fetuses compared with two out of 13 in euploid fetuses (Po0.05). Correlation is between all single analyte values, absence of morphological anomalies, normal karyotype and uneventful outcome.…”

Section: Discussionmentioning

confidence: 98%

“…Biochemical analysis of serum alpha-fetoprotein (AFP), unconjugated estriol (uE 3 ) and human chorionic gonadotropin (hCG) was performed with commercially available chemiluminescent immunometric assays (Medical Systems, Italy). Median values were calculated for each day of the gestational period, and results were expressed as multiples of the median (MoM).…”

Section: Methodsmentioning

confidence: 99%

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Cystic hygroma and mid-trimester maternal serum screening

et al. 2007

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Objective To investigate the relationship between maternal serum screening markers and pregnancy outcome in fetuses with cystic hygroma at 15-18 weeks of gestation. Study design 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.

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Section: Discussionmentioning

confidence: 90%

Section: Discussionmentioning

confidence: 98%

Section: Methodsmentioning

confidence: 99%

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Cystic hygroma and mid-trimester maternal serum screening

et al. 2007

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“…The frequency of accompanying organ anomalies is about 60-80% and karyotype anomalies 60-80%. Broad multilocular lesions, aneuploidi, fetal hydrops also may be present (4,6). Prenatal diagnosis is important in clinical approach.…”

Section: Discussionmentioning

confidence: 99%

“…The most common chromosomal abnormality associated with cystic hygroma is 45 XO (in 60% of all patients). Trisomy 13, 18, 21 and 47XXY are among other common chromosomal abnormalities (4)(5)(6)(7)(8). It is very difficult to determine the prognosis of a fetus with cystic hygroma since it may occur as an isolated finding or may be associated with chromosomal abnormalities (4) …”

Section: Introductionmentioning

confidence: 99%