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Objective To examine whether in smokers there is a significant dose dependency between the number of cigarettes per day and levels of free ß-hCG and pregnancy-associated plasma protein A (PAPP-A) at 11-13+6 weeks of gestation. Methods This was a retrospective analysis of the maternal serum free ß-hCG and PAPP-A levels in relation to the maternal smoking status in 109 263 chromosomally normal singleton pregnancies that had undergone first-trimester screening for Down syndrome by a combination of fetal nuchal translucency thickness and maternal serum biochemistry. Results There were 95 287 nonsmokers and 13 976 cigarette smokers. The overall median PAPP-A MoM among cigarette smokers was 0.827, which was 19.6% lower than the value of 1.029 in nonsmokers ( p < 0.0001 for log10 MoM). The respective values for β-hCG MoM were 1.003 for smokers and 1.035 for nonsmokers ( p < 0.0001 for log10 MoM) which corresponds to a reduction of 3.1%. There was a significant inverse relationship between the number of cigarettes per day and the level of PAPP-A MoM ( r = 0.989, p < 0.0001) but not the level of free β-hCG MoM ( r = 0.733; p = 0.098). Using a statistical modeling approach we found that the screen-positive rate when correcting the PAPP-A MoM by an all or nil smoking factor was reduced by only 0.1% (3.75 vs 3.85%) when compared to correcting with a factor related to the smoking dose per day. Conclusion In first-trimester screening for Down syndrome by maternal serum PAPP-A and free β-hCG the impact of correcting for the dose dependant rather than the all or nil effect of smoking is marginal. However, a dose dependent correction improves the accuracy of the individual patient-specific risk. Copyright © 2007 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

An abstract of the article "3D volume assessment of the corpus callosum and cerebellar vermis using various volume acquisition and post-processing protocols," by V. Frisova and colleagues is presented.

An abstract of the article "Prospective evaluation of the usefulness of one-step combined examination of fetal CNS by specialized 2D/3D neurosonogram and fetal magnetic resonance in the group of fetuses referred for ventriculomegaly," by V. Frisova and colleagues is presented.

Objective: To determine the incidence and present our experience with prenatal diagnosis and postnatal outcome of dacryocystocele., Material and Methods: All cases of congenital dacryocystocele diagnosed in our center between 2020 and 2022 were identified in our database to establish the incidence of these defects. The medical records were then reviewed for gestational age, gender, size, and side of dacryocystocele and postnatal outcome., Results: A total of 26 cases with dacryocystoceles were found at a mean gestation age of 30 weeks (range, 29-33 weeks). The overall incidence was 1.35%, there was an obvious female predominance (73%), 69% of cases were unilateral and 31% were bilateral. There were no serious associated anomalies. The postnatal outcome was obtained in 88% of cases (23/26), in 39% (9 out of 23) cases the dacryocystocele was confirmed postnatally, and in 7 (77%) of these it was complicated by dacryocystitis. The spontaneous resolution was more likely in the right-sided lesions, and this was statistically significant. The treatment in cases with dacryocystitis involved massage and local antibiotics and was successful in 71% of cases. 2 cases (29%) suffer from recurrent dacryocystitis and are followed up with recurrent probing and local antibiotics. No breathing difficulties were described postnatally in our study group., Conclusion: The overall prenatal incidence of dacryocystocele was 1.35%. The outcome is favorable, 61% of dacryocystoceles in our study resolved spontaneously and in no case postnatal breathing complications were reported. Dacryocystitis was common in persisting cases but was usually treated successfully by massage and antibiotics. The right-sided dacryocystoceles are more likely to resolve spontaneously than left-sided, and this was the only significant factor predicting persistence., Competing Interests: Declaration of competing interest No declaration of interest., (Copyright © 2024. Published by Elsevier B.V.)

Facial clefts are among the most common congenital defects. Ultrasound (US) imaging of secondary fetal palate, especially the detection of isolated defects, remains challenging. Currently described two-dimensional (2D) and three-dimensional methods are technically demanding and impractical for application during routine fetal anatomy evaluation. As an adjunct method, magnetic resonance imaging can provide additional information but has its limitations. We present a novel 2D US approach using axial and sagittal planes to evaluate the fetal palate and demonstrate the main differences between an intact palate, isolated cleft palate, and a cleft lip with cleft palate., (© 2020 Wiley Periodicals LLC.)

Objective: To highlight importance of detailed ultrasound examination in fetuses with known normal karyotype (and micro-array result) from CVS. In case of markedly abnormal ultrasound result repeated karyotyping by amniocentesis should be considered. Sample should be analyzed by routine cytogenetic techniques, however also micro-array and targeted FISH should be added in order to achieve most accurate diagnosis., Case Report: We report prenatal diagnosis of Pallister-Killian Syndrome (PKS) at 18 gestational weeks. The mother asked us for second opinion scan in our centre due to finding of seven soft markers of chromosomal defects in fetus with normal CVS result. Our examination revealed asymmetrical fetal growth, normohydramnion, spastic fetal movements and several abnormalities: nuchal edema, mild bilateral hydronephrosis, omphalocoele and facial anomalies. We asked for targeted genetic analysis for PKS. Amniocentesis with repeated genetic analysis confirmed PKS (80% mosaicism of tetrasomy 12p)., Conclusion: Diagnosis of PKS led mother to terminate pregnancy., (Copyright © 2018. Published by Elsevier B.V.)

Objectives: To determine which 3-D techniques are most effective for "real time" prenatal ultrasound assessment of the corpus callosum and cerebellar vermis., Methods: A prospective study involving 100 consecutive normal singleton pregnancies attending routine anomaly scan at 19-23 weeks' gestation. Midsagittal structures of the fetal brain were assessed using six different methods of 3-D image acquisition and three post-processing techniques. The quality of the resulting images were then assessed and scored by a second operator. The significance of the difference between various techniques was assessed using the Friedman test., Results: The best method for visualization of both corpus callosum and cerebellar vermis in one image involved 3-D acquisition in a sagittal plane through the sagittal suture with manipulated 3-D OVIX™ (Oblique View eXtended Imaging) reconstruction. Five other methods scored closely and were not significantly different; all were based on 3-D acquisition in the sagittal plane through either sagittal suture or anterior fontanel., Conclusions: We have applied described techniques for 3-D central nervous system volume acquisition and have shown that the best method of assessment, allowing assessment of both the corpus callosum and the cerebellar vermis, involves midsagittal acquisition through the sagittal suture with 3-D OVIX reconstruction. This technique can be applied successfully in 83% of cases., (© 2017 S. Karger AG, Basel.)

Congenital epulis is a rare benign oral cavity tumor that usually arises from the maxillary alveolar mucosa. It is also known as congenital gingival granular cell tumor. Prenatal diagnosis is uncommon and mostly confined to the third trimester. We report a case of congenital epulis, which was referred to our department at 35 weeks of gestation. Both images from our prenatal 2D/3D ultrasound (including Doppler technique) and magnetic resonance examination are presented. A baby girl weighing 2,800 g was delivered spontaneously at 36 weeks and 1 day. The newborn had to be intubated immediately after delivery. A simple excision of the mass was performed on the first day of neonatal life after clinical examination by our pediatric stomatologists confirmed the presence of a tumor resembling epulis. The correctness of this diagnosis was subsequently confirmed by histogenesis. Photographs from the operating room show the postnatal appearance of the tumor. The baby was discharged at the age of 19 days and has remained well at follow-up controls., (Copyright © 2013 S. Karger AG, Basel.)

Objective: The objective of this study was to investigate the potential value of ADAM12 (A disintegrin and metalloprotease) in first-trimester screening for trisomy 21 and other major chromosomal abnormalities., Study Design: The concentration of ADAM12 was measured at 11-13 weeks in cases of trisomy 21 (n = 49), trisomy 18 (n = 28), trisomy 13 (n = 20), Turner syndrome (n = 29), triploidy (n = 10), and euploid pregnancies (n = 272). The levels of ADAM12, expressed as multiples of median (MoM), were compared in cases and controls and were assessed for association with free beta-human chorionic gonadotropin (hCG) and pregnancy-associated plasma protein A (PAPP-A)., Results: The median ADAM12 value in trisomy 21 (0.961 MoM) was not significantly different from the euploid fetuses (1.013 MoM), but in trisomy 18 (0.697 MoM), trisomy 13 (0.577 MoM), triploidy (0.426 MoM), and Turner syndrome (0.747 MoM), the levels were significantly lower. In both the euploid and aneuploid pregnancies, there was a significant association between ADAM12 and free beta-hCG and PAPP-A., Conclusion: Maternal serum ADAM12 concentration at 11-13 weeks of gestation is unlikely to be useful in first-trimester screening for chromosomal abnormalities because in trisomy 21 the levels are not significantly different from normal, and in the other chromosomal defects, there is a significant association between ADAM12 and the traditional biochemical markers of free beta-hCG and PAPP-A.

Congenital gastric outlet obstruction is a rare condition representing only 1% of all gastrointestinal atresias. Prenatal diagnosis is uncommon and mostly confined to the third trimester of cases presenting a combination of polyhydramnios with dilated stomach. We report a case of congenital gastric outlet obstruction by pyloric membrane which was diagnosed prenatally in the third trimester by sonography and magnetic resonance imaging. The anomaly appeared to be isolated, thus a favorable outcome was expected. A baby girl weighing 3,430 g was delivered spontaneously at 36 weeks. Postnatal imaging methods confirmed the presence of a congenital gastric obstruction. 21 h after delivery, the baby underwent laparotomy, at which time a malrotation and pyloric membrane were found and resolved. The postoperative course was uneventful and the baby was discharged at the age of 18 days and remains well at controls.

Objective: As fetal cells can be indisputably identified through detection of Y FISH signals, we utilized an automated microscopy system developed to identify and enumerate cells bearing X and Y FISH signals. We further investigated the potential of fetal hemoglobin expression as a gender independent marker for automated identification of fetal cells., Method: For FISH-based scanning, verified fetal cells were identified based on the presence of a single X-signal and individual signals for each of the two Y FISH probes. For cell identification based on fetal hemoglobin expression, putative fetal cells were verified based on the presence of signals for anti-gamma or anti-epsilon globin antibody, and FISH signals for the X- and Y- chromosomes., Results: Fetal cells were identified, by FISH-based scanning, in 28 of the 29 maternal samples from pregnancies with male fetuses. Simple density gradient centrifugation achieved a 3- to 5-fold increase in the number of fetal cells detected., Conclusion: Automated microscopy identified fetal cells in both first and second trimester maternal blood samples. Although we were unable to detect fetal erythroblasts in numbers sufficient for clinical diagnosis, the ability to reliably detect fetal cells by FISH-based scanning opens the possibility for prenatal detection of chromosomal aberrations utilizing circulating fetal cells., (Copyright (c) 2008 John Wiley & Sons, Ltd.)