Skin edema in first trimester fetuses.

PURPOSE: The aim of this study was to prove an association between generalized skin edema and nuchal translucency (NT) thickness and its predictive value for aneuploidy and structural anomalies. MATERIALS AND METHODS: In this retrospective study fetuses with and without skin edema in the first trimester with an NT above 2.2 mm were compared. Statistical significance was calculated with the Chi-square test (p < 0.05). RESULTS: 237 fetuses were included in this study (median NT of 3.0; IQR: 2.5 - 3.9 mm, median CRL 68.8; IQR: 58.9 - 74.9 mm). 17.3 % presented with skin edema. The rate of skin edema was 1.3 % in the group with an NT < 95th percentile, 2.7 % in the group with an NT between the 95th and 99th percentile, 17.5 % with an NT of 3.5 - 4.4 mm, 36.4 % with an NT of 4.5 - 5.4 mm, 54.5 % with an NT of 5.5 - 6.4 mm and 95.5 % with an NT above 6.5 mm. 19 % had chromosomal disorders. The rate of aneuploidy was 61.0 % (25/41) in the group with skin edema which was significantly higher than the rate of 10.2 % (20/196) in those without skin edema (p < 0.0001). 12 % had structural anomalies in euploid fetuses. The rate of anomalies was 43.8 % (7/16) in the group with skin edema and significantly higher compared to 9.1 % (16/176) in those without skin edema (p < 0.0005). CONCLUSION: Our data show a clear association between the thickness of NT and the rate of skin edema. Skin edema has a high predictive value for aneuploidy or structural malformations. Therefore, fetuses with skin edema should have early malformation scans in case of normal karyotype.

[Long term follow-up of children with increased nuchal translucency and normal karyotype on first trimester sonography]. / Langzeit-Follow-up von Kindern mit erhöhter Nackentransparenz und normalem Karyotyp in der Ersttrimestersonografie.

BACKGROUND: A prospective study to evaluate long-term pregnancy outcome and childhood development of chromosomally normal foetuses with increased nuchal translucency thickness (NT) at 10-14 weeks of gestation. METHODS: Between Jan 1, 1997 and Dec 31, 2001 78 foetuses with increased NT but normal karyo-type were identified from the database of the Department of Obstetrics and Gynaecology at Innsbruck Medical University. To evaluate long term cognitive abilities and social skills standardized questionnaires ("Elternfragebogen zur ergänzenden Entwicklungsbeurteilung bei den kinderärztlichen Vorsorgeuntersuchungen U6 bis U9"EEE U6-U9; "Kognitive Probleme bei Kindern und Jugendlichen--Vorstellung eines Fragebogens" KOPKIJ) were used. 41 children with increased nuchal translucency were compared with 41 control children matched for date of birth, gestational and maternal age. RESULTS: Follow-up data could be collected in 44 cases. 2 out of 78 foetuses died intrauterine, one infant died after birth. Two out of the 41 surviving infants showed genetic disorders. There was no significant difference in cognitive delay between children with increased NT and controls (9.8% vs. 2.4%, p=0.361). CONCLUSION: Our findings suggest that chromosomally normal foetuses with increased nuchal translucency in the first-trimester scan do not have an increased risk for a significant cognitive developmental delay in an observation period of up to six years.