ABSTRACT
AIM: The objective is to present a rare case of late diagnosis of Cornelia de Lange syndrome. CASE: A 27-year-old pregnant woman (gravida 1, para 0) was referred to our Fetal Medicine Department during her 33rd week of gestation due to intrauterine growth restriction (IUGR) and polyhydramnios. The ultrasound scanning confirmed the findings and furthermore, the 3-D examination revealed minor facial dysmorphisms, limb abnormalities, and hypertrichosis. The fetus died 1 week post-diagnosis due to unknown reason and the woman underwent an induction of labor. Postmortem examination confirmed the diagnosis of Cornelia de Lange syndrome. CONCLUSION: The prognosis of the syndrome is severe. Termination of pregnancy before viability is proposed. Genetic counseling is necessary.
Subject(s)
De Lange Syndrome/diagnostic imaging , Fetal Death , Limb Deformities, Congenital/diagnostic imaging , Pregnancy Trimester, Third , Abortion, Induced , Adult , De Lange Syndrome/genetics , Face/abnormalities , Female , Fetal Growth Retardation/diagnostic imaging , Genetic Counseling , Humans , Hypertrichosis/diagnosis , Hypertrichosis/genetics , Limb Deformities, Congenital/genetics , Polyhydramnios/diagnostic imaging , Pregnancy , Ultrasonography, PrenatalABSTRACT
AIM: Human beta defensins 2 (HBD2) and 3 (HBD3) are peptides expressed in the amnion and chorion. This is a matched case control study conducted in our Department to determine whether second trimester amniotic fluid HBD2 and HBD3 concentrations measured at the time of genetic amniocentesis could be potential markers of preterm labor prediction. METHODS: Amniotic fluid HBD2 and HBD3 were determined by an enzyme-linked immunosorbent assay (ELISA) Women with preterm labor were defined as cases (N=41) while for each case a woman matched for age delivering at term served as control (N=41). Subgroup analysis was conducted to examine possible associations of HBD2 and HBD3 in cases of premature rupture of membranes. Nineteen women with preterm labor and premature rupture of membranes were defined as cases while for every case a woman matched for maternal age delivering at term served as control (N1=19). Results were presented as odds ratios (OR) and 95% confidence intervals. Statistical analysis used STATA 8.2 and SPSS 11.5 edition. A P-value of <0.05 was considered statistically significant. RESULTS: Amniotic fluid concentrations of HBD2 at the time of genetic amniocentesis were positively associated with preterm premature rupture of membranes (P=0.028), but not with preterm labour. No association of HBD3 and preterm birth was documented. CONCLUSION: Second trimester amniotic fluid HBD2 might be a predictor of premature rupture of membranes.
Subject(s)
Amniotic Fluid/metabolism , Fetal Membranes, Premature Rupture/metabolism , Obstetric Labor, Premature/metabolism , beta-Defensins/metabolism , Adult , Case-Control Studies , Female , Humans , Pregnancy , Pregnancy Trimester, Second , Retrospective StudiesABSTRACT
BACKGROUND: Adrenomedullin, secreted by decidua and trophoblast cells, is considered to participate in regulating uterine and placental blood flow, leading to control of placental hormonal secretion. Furthermore, adrenomedullin has an antimicrobial activity. The objective of this study was to determine whether adrenomedullin concentrations in midtrimester amniotic fluid can be used as a predictor of preterm delivery. PATIENTS AND METHODS: Amniotic fluid samples were collected in a retrospective cross-matched study that included 362 women with singleton pregnancies who presented for genetic amniocentesis. Adrenomedullin concentrations were determined by ELISA in amniotic fluid taken from women with spontaneous preterm delivery (n=41) and maternal age-matched controls who had normal pregnancy at term (n=41). RESULTS: No difference was found in adrenomedullin concentrations between women with spontaneous preterm delivery (median: 1.33 ng/ml, range: 0.36-8.53 ng/ml) and controls (median: 1.32 ng/ml, range: 0.33-4.07 ng/ml), nor between a subset of cases of preterm premature rupture of membranes (n=19) and their controls (n=19). CONCLUSION: Adrenomedullin concentration in amniotic fluid cannot serve as a predictor of preterm delivery.
Subject(s)
Adrenomedullin/metabolism , Amniotic Fluid/metabolism , Pregnancy Trimester, Second , Premature Birth/diagnosis , Adrenomedullin/analysis , Adult , Amniotic Fluid/chemistry , Enzyme-Linked Immunosorbent Assay , Female , Gestational Age , Humans , Predictive Value of Tests , Pregnancy , Premature Birth/metabolism , Retrospective StudiesABSTRACT
BACKGROUND: The existence of a "placental clock" which determines the duration of gestation has been previously proposed. It is related to placental CRH secretion and is active from an early phase in human pregnancy. Urocortin is a specific ligand for the corticotropin-releasing factor (CRF) receptor expressed by human trophoblast and fetal membranes. The purpose of this study was to evaluate whether urocortin concentrations in the early second trimester amniotic fluid might serve to predict preterm delivery. METHOD: The urocortin concentrations in early second trimester amniotic fluid were measured in 41 pregnancies with term delivery and in 41 pregnancies with preterm delivery by using an immunoradiometric assay. Conditional logistic regression analysis was used for statistical analysis. RESULTS: Mean amniotic fluid urocortin concentrations in women with preterm labor were 1.55+/-0.63 ng/mL while those in women with term labor were 1.6+/-0.49 ng/mL (p: NS). No statistical significant results were found when comparing amniotic fluid urocortin concentrations in women with preterm premature rupture of membranes leading to preterm labor (n=19) to women with term delivery without premature rupture of membranes. CONCLUSION: These results suggest that urocortin concentrations in the amniotic fluid of genetic amniocentesis are not predictive of preterm labor and birth.
