Prenatal and postnatal findings in small-for-gestational-age fetuses without structural ultrasound anomalies at 18-24 weeks.

OBJECTIVE: To assess phenotypic and genotypic characteristics of small-for-gestational-age (SGA) fetuses without structural anomalies at 18-24 weeks' gestation. METHODS: This retrospective study included structurally normal singleton fetuses with an abdominal circumference ≤ 5th percentile on detailed ultrasound examination between 18 and 24 weeks' gestation. Cases were stratified according to the absence or presence of other abnormal ultrasound findings, such as abnormal amniotic fluid or soft markers. All patients were offered invasive prenatal testing with rapid aneuploidy detection by qualitative fluorescence polymerase chain reaction (QF-PCR) and, if normal, consecutive single nucleotide polymorphism (SNP) array was also offered. Detailed postnatal follow-up (≥ 5 months) was performed. In cases in which a syndromic phenotype became apparent within 5 months after birth and SNP array had not been performed prenatally, it was performed postnatally. RESULTS: A total of 211 pregnancies were eligible for inclusion. Of the 158 cases with isolated SGA on ultrasound, 36 opted for invasive prenatal testing. One case of trisomy 21 and one case of a submicroscopic abnormality (a susceptibility locus for neurodevelopmental disease) were detected. Postnatal follow-up showed a postnatal apparent syndromic phenotype in 10 cases. In one case this was due to trisomy 21 and the other nine (5.8%; 95% CI, 2.8-10.0%) cases had normal SNP array results. In 32/53 cases with SGA and associated ultrasound abnormalities, parents opted for invasive testing. One case of trisomy 21 and one of triploidy were found. In 11 cases a syndromic phenotype became apparent after birth. One was due to trisomy 21 and in one case a submicroscopic anomaly (a susceptibility locus) was found. The remaining syndromic cases (17.3%; 95% CI, 8.7-29.0%) had normal SNP array results. CONCLUSION: Testing for chromosomal anomalies should be offered in cases of SGA between 18 and 24 weeks' gestation. Whole chromosome anomalies occur in 1.3% (95% CI, 0.2-3.9%) of isolated SGA and 5.8% (95% CI, 1.5-14.0%) of associated SGA. In 0.6% (95% CI, 0.1-2.8%) and 1.9% (95% CI, 0.2-8.2%), respectively, SNP array detected a susceptibility locus for neurodevelopmental disease that would not be detected by karyotyping, QF-PCR or non-invasive prenatal testing. Therefore, and because the genetic causes of SGA are diverse, we suggest SNP array testing in cases of SGA. Thorough postnatal examination and follow-up of infants that presented with reduced fetal growth is important because chromosomally normal syndromic phenotypes occur frequently in SGA fetuses. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

Does the Q angle reflect the force on the patella in the frontal plane?

BACKGROUND AND PURPOSE: The quadriceps femoris muscle angle (Q angle) is used to reflect the quadriceps femoris muscle's force on the patella in the frontal plane. We found no studies, however, that validate this assumption. The purpose of this study was to determine whether the Q angle can be used to represent the force on the patella in the frontal plane. SUBJECTS: Seven lower extremities from four male cadavers were dissected and investigated. METHODS: We devised a model in which the line of action of quadriceps femoris muscle's resultant force was calculated in the frontal plane on the seven lower-extremity specimens. We then compared these calculations with the Q angles from the same cadaver specimens. The differences between the measured and calculated Q angles were tested for significance using a paired t test. In addition, we calculated a simple linear regression to test the relationship between the calculated and measured Q angles. RESULTS: Our data showed that the angle for the average resultant force of the quadriceps femoris muscle was 3.90 degrees greater (P = .0003) than the measured Q angles. A significant relationship (r = .919, P = .0035); however, was found between the measured and calculated Q angles. CONCLUSION AND DISCUSSION: The Q angle, as measured in clinical practice, appears to reflect the angle of the resultant quadriceps femoris muscle force. We believe, however, that this measurement is significantly less than the actual quadriceps femoris muscle force vector and underestimates the lateral force on the patella.

Detection of Bacteroides fragilis endotoxin in amniotic fluid by counterimmunoelectrophoresis.

The ability of counter immunoelectrophoresis (CIE) to detect Bacteroides fragilis endotoxin in amniotic fluid in small concentrations was evaluated. A method was developed which, in combination with ultrafiltration, permits detection of B. fragilis endotoxin in amniotic fluid in a concentration of 40 ng/ml or more. The sensitivity threshold was reduced to 2 ng/ml by using a highly reactive IgG-fraction isolated from rabbit anti-B. fragilis IPL E 323 antiserum.