Prenatal detection of Pai syndrome without cleft lip and palate: a case report.

Pai syndrome is a rarely encountered disease characterized by findings of median cleft lip, facial skin polyps, nasal mucosal polyps and midline central nervous system lipoma. We report a case with prenatal detection of a pericallosal lipoma and a skin tag on the forehead. After delivery, the diagnosis was confirmed as a case of Pai syndrome.

Bishop score versus ultrasound of the cervix before induction of labor for prolonged pregnancy: which one is better for prediction of cesarean delivery.

OBJECTIVES: To find an effective way to predict Cesarean section (CS) before induction of labor. METHODS: Nulliparous women at ≥ 41 weeks of pregnancy were enrolled in the study. Bishop score (BS), cervical length (CL), posterior cervical angle (PCA), quantification of the cervical stromal echogenicity by tissue histograms and opening of the internal cervical os (funnelling) were recorded. The vaginal delivery and CS groups were then compared in terms of the clinical and ultrasonographic cervical findings. RESULTS: BS, CL, PCA and funnelling were the significant predictors of CS, whereas no such relationship existed for the quantitative echogenicity of the cervical stroma. Although the difference was not statistically significant, the area under the curve was higher for the BS than that for sonographic CL and PCA in the prediction of all CSs. The best cut-off values to predict CS for BS, CL and PCA were <5, >27 mm and <98°, respectively. Combination of all three parameters had a sensitivity of 83.3%, specificity of 100%, positive predictive value of 100% and a negative predictive value of 82% for the prediction of CS. CONCLUSIONS: In nulliparous women with prolonged pregnancy, the BS predicts the need for CS better than the ultrasonographic assessment of the cervix.

Aberrant right subclavian artery in Down syndrome fetuses.

OBJECTIVES: The aim of this study is to determine the frequency of aberrant right subclavian artery (ARSA) in trisomic and normal fetuses during the routine detailed ultrasonography in the second trimester and to evaluate the potential value of ARSA as an ultrasonographic marker for trisomy 21. METHODS: The presence of normal brachicephalic trunk/or ARSA was confirmed in all pregnant women undergoing second trimester detailed fetal anomaly screening beyond 16th week of pregnancy. Amniocentesis following genetic councelling was recommended to all women having either any positive ultrasonographic marker including ARSA or a positive biochemical screening test (triple test) result. RESULTS: During the 17-month period, 2081 patients were screened, and 23 patients with ARSA (1,1%) and 20 patients with trisomy 21 were detected. Of those 20 patients with trisomy 21, ARSA was detected in seven (%35). On the other hand, 30.4% of the fetuses with ARSA had also trisomy 21. The positive and negative likelihood ratios of ARSA for trisomy 21 were 45.08 and 0.65, respectively. CONCLUSIONS: In our study, the ARSA in combination with other ultrasound signs increased the risk for trisomy 21 by factor of 45, but the independent ability of ARSA as an isolated marker to predict fetal Trisomy 21 is unclear.

Cardiac rhabdomyoma with tuberous sclerosis: a case report.

BACKGROUND: Rhabdomyomas are the most common benign cardiac neoplasms occurring in the fetus and neonate, with most of them identified within the first year of life. Cardiac rhabdomyomas are frequently associated with tuberous sclerorosis. CASE: A 25-year-old, pregnant woman with no remarkable personal or family history was referred to us for a suspected fetal cardiac anomaly. Ultrasonographic examination of the fetus revealed multiple solid masses consistent with rhabdomyoma in the ventricular septum and ventricular wall. No other anomalies could be detected. Postnatal echocardiography confirmed the presence of cardiac rhabdomyoma, and periventricular subependymal multiple hamartomas were diagnosed by postnatal magnetic resonance imaging. CONCLUSION: When fetal cardiac rhabdomyoma is diagnosed, careful evaluation of other fetal structures, including brain and renal parenchyma, should be performed to search for signs of tuberous sclerosis.

Laryngeal mask airway insertion with remifentanil.

INTRODUCTION: We conducted a study to find out the best conditions for LMA insertion with two different doses of remifentanil added to propofol and propofol administered alone. METHODS: Following hospital clinical research ethics committee approval, 60 ASA I-II patients were included in the randomized double-blind study. Following premedication, patients received i.v. 0.25 microg kg(-1) remifentanil (Group R1), 0.50 microg kg(-1) remifentanil (Group R2) or normal saline (Group P) in 60 sec. Then following 20 mg lidocaine, propofol 2 mg kg(-1) were administered in R1 and R2 groups and 2.5 mg kg(-1) in P group. Ease of insertion of LMA and airway quality at first attempt was assessed. Number of attempts of LMA insertion, apnea time, additional propofol requirement and hemodynamic changes were recorded. RESULTS: There were no significant differences in demographic data among the patients. Apnea time (mean +/- SEM) was significantly shorter in P group (34.09 +/- 5.5 sec) compared to R1 (82.5 +/- 12.7 sec) and R2 (87.2 +/- 6.6 sec) groups (p = 0.01 and p = 0.001). Ease of LMA insertion was assessed as grade 1 in 100% of patients in R2 group while 65% in R1 and 30% in P groups. Undesirable responses following LMA insertion were observed in 54% of patients in P group. CONCLUSION: Propofol given 2.5 mg kg(-1) alone is not a good agent for LMA insertion. Remifentanil used in both doses combined with propofol provides good and excellent conditions for insertion of LMA with minimal hemodynamic disturbances.

Nasal bone measurement during the 1st trimester: is it useful?

The aim of this study was to present our preliminary data about nasal bone measurements at 11-14 weeks of pregnancy. This study was conducted in our prenatal unit between 2000 and 2003. A total of 642 pregnant women (single pregnancies) were enrolled into the study. During the first trimester of pregnancy, crown-rump length, nuchal translucency thickness, and fetal nasal bone length measurements and ductus venosus Doppler images were evaluated. The distribution of absent or small nasal bones in both normal fetuses and in those having some pathological conditions was compared by statistical analysis. p < 0.05 was considered significant. Nasal bone evaluation was successful in 600 of 642 (93.4%) ultrasound examinations. The linear regression line showed a significant positive slope with increasing crown-rump length (r=0.54, p < 0.001). Absent or small nasal bones were more common in abnormal than in normal fetuses (p=0.007). It is clear that the fetal nasal bone is becoming a powerful tool in prenatal screening for aneuploidy. Larger studies to be performed in a low-risk population are needed to assess whether the measurement of the nasal bone length provides additional benefits beyond the assessment of the presence or absence of the nasal bone.