Objectives To review the normal and pathological development of the posterior membranous area (PMA) in the fetal brain, to define sonographic criteria with which to diagnose a Blake's pouch cyst (BPC)
Femoral hypoplasia-unusual
CASE REPORTS
Case 1A 30-year-old primigravida was referred to our unit at 21 weeks' gestation because of a suspicion of severe bilateral femoral hypoplasia in her male fetus. The family history was negative for congenital anomalies. The patient did not have insulin-dependent diabetes mellitus. Ultrasound examination showed fetal biometry consistent with a gestational age of 21 weeks, with the exception of the femora, which appeared severely hypoplastic. The left femur was completely absent whereas the right one measured only a few millimeters (Figure 1a and b). Ultrasound imaging of the fetal face revealed the presence of unilateral right cleft lip and palate (Figure 1d). Unilateral right renal agenesis was also observed. In the counseling session, the couple was informed of the putative diagnosis and outcome of femoral hypoplasia-unusual facies syndrome (FHUFS), and the possible management options.After counseling, the couple opted for termination of the pregnancy. The diagnosis of FHUFS was confirmed at autopsy. In particular, severe bilateral and asymmetric femoral hypoplasia (Figure 1c), unilateral cleft lip/palate ( Figure 1e) and unilateral renal agenesis were found. In addition, the face showed the typical features of FHUFS: a long philtrum, thin upper lip, moderate micrognathia and low-set ears (Figure 1e). Other features consistent with the diagnosis of FHUFS found at autopsy included a short neck and a pelvis with vertically orientated iliac blades.
Case 2A 28-year-old obese woman (gravida 2, para 1) with insulin-dependent diabetes mellitus was referred to our unit at 21 weeks' gestation because of an abnormal second-trimester anomaly scan. The family history was unremarkable, with no consanguinity reported. On ultrasound examination, severe hypoplasia of the left femur was observed (Figure 2a), whereas the contralateral femoral shaft appeared unremarkable, with length in the normal range 1 . Examination of the fetal face revealed severe micrognathia (Figure 2c) and the ears appeared low set. No other abnormalities were observed. A diagnosis of FHUFS was made. After counseling, the couple opted for termination of the pregnancy. At autopsy, severe unilateral hypoplasia of the left femur, severe micrognathia and low-set ears were confirmed (Figure 2b and d). Also noted were a short nose with a broad tip, a thin upper lip and a cleft palate (Figure 2d, inset), confirming the diagnosis of FHUFS.
Case 3A 24-year-old primigravida was referred to our unit at 13 weeks' gestation after the detection of abnormal lower limbs at the nuchal translucency scan. There was no
Objective To assess whether medically qualified sonologists with low-to-intermediate scanning experience are able to detect major abnormalities of the outflow tracts by reviewing the A-plane of cardiac volume datasets acquired with spatiotemporal image correlation (STIC).
Methods
We measured the concentrations of cardiac troponin T (cTnT) and amino-terminal pro-natriuretic peptide (NT-proBNP) in umbilical cord blood during the second trimester (20-25 weeks of gestation) and at delivery in 109 uncomplicated pregnancies to define reference values. Using the 97.5th percentile, the upper reference limits for cTnT and NT-proBNP were 0.308 ng/mL and 5402 pg/mL in fetuses in the second trimester, and 0.038 ng/mL and 1690 pg/mL in healthy neonates, respectively. We also evaluated whether labor and delivery mode affected the concentrations of the two analytes. We found significantly higher (p<0.001) umbilical blood NT-proBNP and cTnT levels at 20-25 weeks of gestation than at term. In addition, within the term group, NT-proBNP concentrations were significantly higher in women delivering by elective cesarean section than in women delivering spontaneously (p<0.001), and higher than in women delivering by cesarean section during active labor. This indicates that the decrease in NT-proBNP levels is probably due to labor rather than delivery mode. Finally, we confirmed the at-birth reference values previously established for cTnT and NT-proBNP.
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