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. 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.

[The factors promoting dystrophic pathology of the hand and duodenal peptic ulcer in women]. / O faktorakh, sposobstvuiushchikh distroficheskoi patologii kisti i iazvennoi bolezni dvenadtsatiperstnoi kishki u zhenshchin.

The authors have made an attempt to make exact the reasons of the frequent association of hand dystrophic pathology and duodenal ulceration disease in women. It is revealed that pointed diseases are to be the late symptoms of equally directed alterations in the organism, including neuro-humoral and immune mechanisms of adaptation, occurring in women even in sexual maturing period and being the favourable background for occurrence of various diseases including hand dystrophic pathology and duodenal ulcerative disease.

Correlation of ultrasound findings and biochemical markers in the second trimester of pregnancy in fetuses with trisomy 21.

OBJECTIVE: The aim of the present study was to assess possible correlations between ultrasound findings and maternal serum biochemical ('triple test') markers among fetuses with trisomy 21 in the second trimester of pregnancy. METHODS: The study was a retrospective cohort study of 72 pregnancies affected by trisomy 21 who had a second trimester ultrasound and biochemical screen performed at a single center between 1990 and 1999. The biochemical screen consisted of alpha-fetoprotein (AFP), total beta human chorionic gonadotrophin (hCG) and estriol (uE(3)). Marker levels were expressed in multiples of the median (MoM). The ultrasound findings assessed were major structural anomalies, short humerus length, short femur length, increased nuchal fold thickness (NF), hyperechoic bowel, echogenic intracardiac focus (EIF), ventriculomegaly, choroid plexus cysts and renal pyelectasis. RESULTS: Second trimester maternal serum biochemical markers and ultrasound findings appeared to be largely independent of each other. However, some significant correlations were observed. Estriol was significantly lower when a fetal cystic hygroma was detected on ultrasound compared to those with no cystic hygroma (0.40 vs. 0.70 MoM, p<0.05). The median hCG level was significantly lower in those pregnancies with a normal second trimester fetal ultrasound compared to those with positive ultrasound findings (2.07 vs. 2.87 MoM, p<0.05). Median hCG levels were also significantly higher in those cases with NF> or =5 mm as compared to those with NF<5 mm (2.99 vs. 2.49 MoM, p<0.05). This difference persisted after exclusion of the five cases with cystic hygromas (2.99 vs. 2.49 MoM, p<0.05). A significant positive correlation was observed between log(10) hCG and log(10) NF MoM (Spearman's rho=0.252, p<0.05). NF was significantly greater among fetuses with an identifiable cardiac defect compared with those without a detectable cardiac defect (median of 7.0 mm vs. 3.8 mm, p<0.01). This difference persisted when expressed as multiples of the median (2.8 vs. 1.3 MoM, p<0.01). CONCLUSION: Second trimester ultrasound and biochemical markers are largely independent in fetuses with trisomy 21, however significant correlations between the two were observed in the present series. These may be important in screening protocols that combine second trimester ultrasound and biochemical markers.