Fetal hydrometrocolpos with pre‐axial mirror polydactyly as a new variant of McKusick‐Kaufman syndrome

This report describes a variant of McKusick‐Kaufman syndrome presenting with a large fetal abdominal cyst of hydrometrocolpos at 37 weeks of gestation. The diagnosis was based on the ultrasound findings of a large homogeneous hypoechoic cyst (diameter of >10 cm) with incomplete septum, thickened wall, superiorly connecting to the dilated uterus, consistent with hydrometrocolpos. Additionally, pre‐axial mirror polydactyly of the left foot was suspected. Postnatal examination/work‐up confirmed the prenatal findings. This is the first report of prenatal diagnosis of hydrometrocolpos with complex polydactyly of mirror image pre‐axial duplications containing nine toes instead of six‐toe postaxial polydactyly.     

Pattern recognition using transabdominal ultrasound to diagnose ovarian mature cystic teratoma

Objective

To determine the validity of sonographic pattern recognition in the diagnosis of mature cystic teratoma.

Methods

Consecutive patients scheduled for elective surgery for adnexal masses were included in the study. All patients underwent transabdominal ultrasound with color extended-flow mapping within 24 hours prior to surgery. Examinations were performed by the same sonographer to identify benign cystic teratoma. The final diagnoses were based on histopathologic findings.

Results

A total of 329 consecutive patients were recruited; 23 were excluded because the masses were not adnexal masses. Of the remaining 306 patients, 36 masses were found to be mature cystic teratomas and 270 were nonteratomas. Sonographic pattern recognition showed a sensitivity of 94.4% and a specificity of 98.2%.

Conclusion

Sonographic pattern recognition using transabdominal ultrasound with color extended-flow mapping can accurately diagnose mature cystic teratoma.     

A Simple Rule for Prenatal Diagnosis of Total Anomalous Pulmonary Venous Return

The objective of this series was to describe a simple rule for prenatal diagnosis of total anomalous pulmonary venous return (TAPVR). Fourteen fetuses had a prenatal diagnosis of TAPVR by the simple rule, including the following components: (1) the major criterion, which was the absence of a connection between the pulmonary vein and the left atrium; and (2) at least 1 of the following minor criteria: (a) the presence of a vascular confluence behind the atria, (b) abnormal spectral Doppler waveforms in the pulmonary veins, (c) a smooth posterior wall of the left atrium, (d) increased retroatrial space, (e) a dilated coronary sinus (cardiac type), (f) a dilated superior vena cava or brachiocephalic vein, and (g) an additional vessel on the 3‐vessel/3‐vessel and trachea view or a vertical descending vein. All were accurately diagnosed, and none were missed by the diagnosis. In summary, the simple rule described is helpful in increasing the number of accurate prenatal diagnoses of TAPVR.     

Recurrent impetigo herpetiformis successfully treated with methotrexate: a case report

Impetigo herpetiformis is a rare disease and its occurrence is specific for pregnancy. The lesions are characterized by sterile, pustular eruptions. The disorder is usually seen in the third trimester, but cases of impetigo herpetiformis appearing in the first trimester have also been reported. The lesions are expected to disappear after birth, but the disorder may recur during subsequent pregnancies. In this case report we discuss a 28-year-old pregnant woman, G3P1011, with a history of impetigo herpetiformis in the first pregnancy, who presented with generalized pustular lesions at 30 weeks' gestation. Her disease responded poorly to corticosteroids and was more severe than in the previous pregnancy. She delivered prematurely at 34 weeks' gestation and then received aggressive postpartum treatment with methotrexate, resulting in a dramatic response. This case supports the current understanding that recurrent impetigo herpetiformis in subsequent pregnancy tends to be more severe and to have an earlier onset. Additionally, it provides additional evidence that methotrexate may be used as an alternative treatment for impetigo herpetiformis in the case of a poor response to corticosteroids.     

Abdominal Aortic Pulsed Wave Doppler Patterns Reliably Reflect Clinical Severity in Patients with Coarctation of the Aorta

Objective. There are situations in which standard echocardiography does not adequately define the aortic arch. We sought to determine what additional information could be gained by analyzing abdominal aortic Doppler flows in coarctation. Design. Previously recorded echocardiographic data were reviewed in 70 controls and 248 patients with coarctation, including abdominal aortic values for pulsatility indices, pulse delay, and presence of early diastolic reversal. Ability of these variables to distinguish controls from coarctation patients and to assess coarctation severity was assessed. Results. Corrected maximum instantaneous gradient and all abdominal aortic flow variables were associated with severity of obstruction. Early diastolic reversal was universally absent in significant coarctation. Threshold values for other parameters associated with significant obstruction were: corrected pulse delay ≥3.4 msec^1/2, pulsatility index <2.0, and systolic to diastolic velocity ratio <3.6. A combined abdominal aortic “variable” (absence of early diastolic reversal and corrected pulse delay ≥2.8 msec^1/2) was found to be the best predictor of clinical coarctation status (positive predictive value = 93%, negative predictive value = 88%). Conclusions. In the absence of a ductus arteriosus, abdominal aortic Doppler parameters can reliably predict the presence of significant coarctation. When early diastolic reversal was present, obstruction was always absent. Lack of early diastolic reversal with a prolonged pulse delay was the best predictor of significant obstruction. Abdominal aortic Doppler evaluation should become a routine part of the evaluation of patients with known or suspected coarctation.     

Association between isolated abnormal levels of maternal serum unconjugated estriol in the second trimester and adverse pregnancy outcomes

Objective: To determine the association between maternal serum unconjugated estriol (uE3) levels in the second trimester and adverse pregnancy outcomes.

Patients and methods: The prospective database of our fetal Down screening program was assessed and reviewed for maternal serum uE3 levels. Pregnancies with medical diseases, abnormal levels of beta-human chorionic gonadotropin, alpha-fetoprotein and fetal chromosomal or structural abnormalities were excluded. The recruited women were categorized into three groups: high (>95th percentile), normal (5–95th percentile) and low (<5th percentile) uE3 levels.

Results: Of 14?212 screened women, 9183 (high; 455, normal; 8271 and low; 457) levels group, were available for outcome analysis. The rates of most adverse outcomes, including preterm birth, low Apgar scores, fetal death, placental abruption, preeclampsia and gestational diabetes mellitus, of the high and normal groups were comparable. Nevertheless, low uE3 levels increased risk of fetal growth restriction (FGR) (RR: 2.36, 95% CI: 1.79–3.10) and low birth weight (LBW) (RR: 1.87, 95% CI: 1.45–2.39), but not preterm birth. Logistic regression analysis indicated that low uE3 level was an independent risk factor for FGR and LBW.

Conclusions: High uE3 levels in the second trimester are not associated with poor outcomes, whereas low levels significantly increase risk of FGR and LBW but not other adverse outcomes.