Band neutrophil sign: A strong first-trimester ultrasound marker of combined duodenal and esophageal atresia.

OBJECTIVES: To reveal a first-trimester sonographic marker associated with combined duodenal and esophageal atresia (DA and EA). METHODS: This retrospective study included four patients referred to our department in the first trimester due to fetal stomach anomaly. In the literature, we found 20 additional cases of combined DA and EA with four of them to be revealed at 12 weeks. RESULTS: We present the largest for to date case series of combined DA and pure EA diagnosed in the first trimester including one with additional visualization of the distal esophageal pouch and its communication with the stomach. All our cases and four previously published reports (including two cases of DA and EA with tracheoesophageal fistula [TEF]) were characterized by the presence of "band neutrophil" sign-a symmetrical C-shaped loop in the fetal abdomen, occupying a central position close to the anterior abdominal wall. Similar findings could be seen also later in pregnancy, but they lack the same prognostic value. CONCLUSIONS: Band neutrophil sign is a pathognomonic first-trimester ultrasound marker of combined DA and EA irrespective of the presence of TEF. Nevertheless, it should be further evaluated in prospective studies.

Prenatal diagnosis of Klippel-Trenaunay syndrome: Series of four cases and review of the literature.

Klippel-Trenaunay syndrome is a rare disease with a classic triad of port wine stains, varicose veins, and bony and soft tissue hypertrophy of an extremity. The quality of life in these patients is significantly affected, making the prenatal diagnosis of Klippel-Trenaunay syndrome important. We present four prenatally diagnosed cases of this anomaly with a unique case of ectrodactyly of the hand in foetus with Klippel-Trenaunay syndrome. Such a combination has not been previously reported prenatally. A review of the literature for similar cases is also presented.

First-Trimester Diagnosis of Agnathia-Otocephaly Complex: A Series of 4 Cases and Review of the Literature.

First-trimester ultrasound findings in 4 fetuses with agnathia-otocephaly complex are described. In addition, information from 3 cases reported in the literature was also reviewed, for a total of 7 cases analyzed. All 7 fetuses presented with agnathia and 6 with ventrocaudal displacement of the ears (melotia/synotia). Four fetuses had holoprosencephaly. In 6 cases, the parents opted for termination of pregnancy. The remaining case resulted in premature delivery at 26 weeks due to severe polyhydramnios and early neonatal death. This report highlights the important role of ultrasound in the identification of agnathia-otocephaly complex in the first trimester of pregnancy.

Two Cases of Prenatally Diagnosed Membranous and Muscular Ventricular Septal Aneurysms.

A ventricular septal aneurysm is a rare heart defect located in the muscular or membranous part of the septum. Muscular ventricular septal aneurysms are usually isolated, with a favorable prognosis. Membranous ventricular septal aneurysms are often associated with other heart anomalies, could result in serious complications, and may require surgical treatment. We describe 2 cases of prenatally diagnosed ventricular septal aneurysms: an isolated membranous ventricular septal aneurysm with a good outcome, which was initially misdiagnosed as an atrioventricular septal defect; and a muscular ventricular septal aneurysm associated with a hypoplastic aortic arch and severe hydrocephaly, which resulted in termination of the pregnancy. To our knowledge, the combination of a muscular ventricular septal aneurysm with an extracardiac anomaly has not been reported previously.

Biparietal diameter-to-crown-rump length disproportion in first-trimester fetuses with holoprosencephaly.

OBJECTIVES: To determine whether the biparietal diameter measurement is altered in first-trimester fetuses with holoprosencephaly. METHODS: Cases of holoprosencephaly were collected retrospectively from 4 fetal medicine centers, and first-trimester biparietal diameter measurements were reviewed. The diagnosis of holoprosencephaly was established sonographically by the detection of abnormal choroid plexus morphologic characteristics (absent "butterfly" sign) and the identification of a monoventricular cerebral cavity on axial views of the fetal brain. The proportion of fetuses with biparietal diameter measurements below the 5th percentile for crown-rump length was determined. RESULTS: Among 45 cases of holoprosencephaly reviewed, 43 had information on both biparietal diameter and crown-rump length measurements. The biparietal diameter was below the 5th percentile for crown-rump length in 14 (32.6%) fetuses. Chromosomal analysis was available in 41; no statistically significant difference in biparietal diameter measurement between those with associated chromosomal anomalies and those without anomalies was noted. A supplementary analysis using head circumference measurement showed an even greater proportion of fetuses with holoprosencephaly with measurements below the 5th percentile for crown-rump length (18 of 42 [42.9%]). CONCLUSIONS: One-third of first-trimester fetuses with a sonographic diagnosis of holoprosencephaly had a biparietal diameter that was smaller than expected for crown-rump length. In this subset of fetuses, the evaluation of intracranial anatomy for signs of holoprosencephaly may be more difficult to perform due to the smaller size of the brain. Therefore, the detection of a biparietal diameter below the 5th percentile as expected from crown-rump length on the first-trimester scan may be a warning sign of holoprosencephaly and should prompt a detailed examination of the intracranial anatomy.