Ultrasound screening for chromosomal anomalies in the first trimester of pregnancy

For the last 6 years, sonographic signs for excessive fluid accumulation in the backs of 10- to 12-week-old fetuses have been looked for prior to transabdominal chorionic biopsy. In 1400 pregnancies, subsequent karyotype analyses revealed 28 cases of Down syndrome. In 15 (= 54 per cent), a large fluid cushion over most of the back had been documented at the time of biopsy. Only a few chromosomally normal fetuses with the same peculiarity were observed. The cushion was also present in fetuses with trisomies 18 and 13, and in Turner syndrome. Systematic first-trimester screening for nuchal fluid accumulation seems to be a recommended method for the detection of Down syndrome and other chromosome anomalies in young pregnant women at low risk. It compares favourably with current methods of maternal serum screening performed at 16-18 weeks which require a higher number of invasive procedures

Prenatal ultrasonographic diagnosis of holoprosencephaly two cases of cebocephaly and two of cyclopia

Four instances of ultrasonographic detection of holoprosencephaly, one during the second and three during the third trimester of gestation, are reported. Horizontal scans of the skull showed absence of midline structures, communication between the lateral ventricles and reduction of the brain mass, particularly anteriorly. Sagittal scans revealed absence of the nose and presence of a proboscis in the fetuses with cyclopia and hypoplasia of the nose in one cebocephalic fetus. Hypotelorism or a single midline orbit are further pathognomonic features detectable by ultrasound, but only the latter was identified in one of the cyclopic fetuses. Facultative findings of holoprosencephaly identifiable by ultrasound, but absent in our cases, are premaxillary agenesis and bilateral cleft lip and maxilla. The characteristic pattern of ultrasonographic findings in holoprosencephaly should allow an unequivocal prenatal diagnosis during the second and third trimester

Prenatal diagnosis of Schwartz–Jampel syndrome with early manifestation

A mother who had given birth to a child with Schwartz–Jampel syndrome (SJS) with neonatal manifestations (myotonia, congenital contractures, bowing of femora and tibiae) underwent ultrasonic fetal examination during the 17th and 19th week of her second pregnancy. Moderately decreased fetal motor activity and constant flexion of the fingers were observed at both examinations. In addition, there was mild bowing and shortening of the femora. At birth, the child presented with the characteristic pattern of SJS similar to her older brother. Prenatal ultrasonic diagnosis of Schwartz–Jampel syndrome is possible, at least for the form with neonatal onset of myotonia and contractures

Antley‐Bixler syndrome in sisters: A term newborn and a prenatally diagnosed fetus

Sisters with the Antley‐Bixler syndrome are reported herein. The first infant died at 14 days of respiratory failure and the following findings characteristic of the syndrome: craniosynostosis of coronal and lambdoid sutures, brachycephaly, frontal bossing, severe midface hypoplasia with proptosis and choanal stenosis/atresia, humero‐radial synostosis, medial bowing of ulnae, long slender fingers with camptodactyly, narrow iliac wings, anterior bowing of femora, cardiac and renal malformations. Unlike two previously published cases, she did not have connatal fractures, but she had vaginal atresia. Ultrasound examination in a subsequent pregnancy showed immobility at the elbows of the fetus, humero‐radial synostosis, medial bowing of ulnae, and long hands and fingers. The fetus also had mild bowing of femora. The pregnancy was terminated in the 21st week and the findings were confirmed by clinical and radiologic examinations. Additional autopsy findings included cardiac and renal malformations. The Antley‐Bixler syndrome is a recognizable malformation syndrome with a probable autosomal recessive mode of inheritance, which can be diagnosed in the fetus by midtrimester ultrasound examination

An extreme mountain ultra-marathon decreases the cost of uphill walking and running

Purpose: To examine the effects of the world’s most challenging mountain ultramarathon (MUM, 330 km, cumulative elevation gain of +24000 m) on the energy cost and kinematics of different uphill gaits. Methods: Before (PRE) and immediately after (POST) the competition, 19 male athletes performed three submaximal 5-min treadmill exercise trials in a randomized order: walking at 5 km·h-1, +20%; running at 6 km·h-1, +15%; and running at 8 km·h-1, +10%. During the three trials, energy cost was assessed using an indirect calorimetry system and spatiotemporal gait parameters were acquired with a floor-level high-density photoelectric cells system. Results: The average time of the study participants to complete the MUM was 129 h 43 min 48 s (range: 107 h 29 min 24 s to 144 h 21 min 0 s). Energy costs in walking (-11.5 ± 5.5%, P < 0.001), as well as in the first (-7.2 ± 3.1%, P = 0.01) and second (-7.0 ± 3.9%, P = 0.02) running condition decreased between PRE and POST, with a reduction both in the heart rate (-11.3%, -10.0%, and -9.3%, respectively) and oxygen uptake only for the walking condition (-6.5%). No consistent and significant changes in the kinematics variables were detected (P values from 0.10 to 0.96). Conclusion: Though fatigued after completing the MUM, the subjects were still able to maintain their uphill locomotion patterns noted at PRE. The decrease (improvement) in the energy costs was likely due to the prolonged and repetitive walking/running, reflecting a generic improvement in the mechanical efficiency of locomotion after ~130 h of uphill locomotion rather than constraints imposed by the activity on the musculoskeletal structure and function