Quantitative analysis of fetal facial morphology using 3D ultrasound and statistical shape modeling: a feasibility study.

BACKGROUND: The antenatal detection of facial dysmorphism using 3-dimensional ultrasound may raise the suspicion of an underlying genetic condition but infrequently leads to a definitive antenatal diagnosis. Despite advances in array and noninvasive prenatal testing, not all genetic conditions can be ascertained from such testing. OBJECTIVES: The aim of this study was to investigate the feasibility of quantitative assessment of fetal face features using prenatal 3-dimensional ultrasound volumes and statistical shape modeling. STUDY DESIGN: Thirteen normal and 7 abnormal stored 3-dimensional ultrasound fetal face volumes were analyzed, at a median gestation of 29+4 weeks (25+0 to 36+1). The 20 3-dimensional surface meshes generated were aligned and served as input for a statistical shape model, which computed the mean 3-dimensional face shape and 3-dimensional shape variations using principal component analysis. RESULTS: Ten shape modes explained more than 90% of the total shape variability in the population. While the first mode accounted for overall size differences, the second highlighted shape feature changes from an overall proportionate toward a more asymmetric face shape with a wide prominent forehead and an undersized, posteriorly positioned chin. Analysis of the Mahalanobis distance in principal component analysis shape space suggested differences between normal and abnormal fetuses (median and interquartile range distance values, 7.31 ± 5.54 for the normal group vs 13.27 ± 9.82 for the abnormal group) (P = .056). CONCLUSION: This feasibility study demonstrates that objective characterization and quantification of fetal facial morphology is possible from 3-dimensional ultrasound. This technique has the potential to assist in utero diagnosis, particularly of rare conditions in which facial dysmorphology is a feature.

Is the short axis view of the fetal heart useful in improving the diagnostic accuracy of outlet ventricular septal defects?

OBJECTIVES: Outlet ventricular septal defects (VSDs) are usually suspected on the five-chamber view of the fetal heart; however, postnatal confirmation occurs only in a small number of cases. The aim of this study was to evaluate if the systematic assessment of the short axis view may improve the prediction of prenatally detected outlet VSDs. METHODS: Cases where isolated outlet VSD was suspected on the five-chamber view were assessed by using the short axis scanning plane for confirmation of the defect. Postnatal assessment was performed within 2 weeks from birth at our Paediatric Cardiology Unit. RESULTS: An outlet VSD was suspected at five-chamber view in 23 fetuses. Postnatal confirmation of the VSD occurred in 14 cases where the defect was prenatally detected both on the five chamber and the short axis views. VSDs were not confirmed at postnatal assessment only in two cases where outlet VSD was suspected on both views, whereas all the seven cases with a suspected VSD on the five-chamber view only turned out to be false positives. CONCLUSION: The short axis view of the fetal heart seems useful in confirming the presence of outlet VSDs. © 2016 John Wiley & Sons, Ltd.

Self-Amputation of the Extra Digit in a Fetus with Polydactyly: First Ultrasound Demonstration.

We herein report the first ultrasound evidence of the self-amputation of an extra digit in case of fetal polydactyly. The prenatal evidence of fetal polydactyly is not always followed by postnatal confirmation. This is not always due to ultrasound misdiagnosis, but often to an in utero self-amputation phenomenon. We demonstrate that there is the detachment of part of the digit, leading to the evidence of a neonatal bump on the site of the prenatal extra digit. This demonstration has been possible by the direct visualization of the remnant by ultrasound.

How often an isolated cardiac disproportion predicts a coarctation of the aorta? Single center experience and systematic review of the literature.

BACKGROUND: Cardiac disproportion is considered as an indirect sign of coarctation of the aorta (CoA). In this review, we have reassessed the positive predictive value (PPV) of such finding for a postnatal confirmation of CoA. DATA SOURCES: All cases of isolated cardiac disproportion diagnosed in the four-chamber and/or three-vessel/three-vessel and trachea views (right/left sections >1.5) were included. Postnatal cardiac findings were recorded. Additionally, a systematic literature search (PubMed, EMBASE, Cochrane library, and the reference lists of identified articles) regarding the association between antenatally detected cardiac disproportion and postnatal confirmation of CoA was performed. Data from our center were pooled with those derived from the literature. RESULTS: Ten fetuses with isolated cardiac disproportion were selected from our center and 259 from the literature review. CoA was postnatally confirmed in 101/269 (PPV 38%). PPV of antenatal cardiac findings was significantly higher in earlier gestation (23/27, 85% <26+0 weeks versus 11/39, 28%≥26+0 weeks, p < .001). No significant difference was noticed comparing ventricular disproportion with combined ventricular and great vessels disproportion (86/230 versus 15/39, p .89). DISCUSSION: Isolated cardiac disproportion has an overall chance of one in three of heralding a CoA in the neonate. The specificity of these findings is significantly higher in the second trimester.

Chemically assisted dissection of tissues in laparoscopic excision of endometriotic cysts.

STUDY OBJECTIVE: To evaluate the capacity of chemical dissection of tissues using a mucolytic substance, Mesna, in improving laparoscopic excision of endometriotic cysts. DESIGN: Randomized, double-blind, controlled trial (Canadian Task Force classification I). SETTING: University-affiliated training hospital. PATIENTS: Forty-four women with symptomatic ovarian endometriotic cysts. Intervention. Laparoscopic excision of endometriotic cysts in 22 women with the aid of Mesna solution and in 22 with the aid of saline solution. MEASUREMENTS AND MAIN RESULTS: In comparison with saline solution, Mesna as a chemical dissector resulted in significant reductions in operating time, in difficulty encountered by the surgeon to enucleate the cysts, and in less bleeding. No differences were found in length of hospital stay, costs of surgeries, analgesic requirement, and fever. Postoperatively, patients treated with Mesna achieved more pregnancies than those treated with saline. CONCLUSION: Chemical dissection of tissues with Mesna proved to be a safe and suitable support in laparoscopic surgery for ovarian endometriotic cysts.