11/179. Early ultrasound diagnosis of Neu-Laxova syndrome. We report the mid-trimester prenatal diagnosis of Neu-Laxova syndrome (NLS) in two at risk families utilizing serial sonographic examinations. Ultrasound and pathologic findings from seven affected pregnancies, the largest case series of NLS to date, are presented. One fetus had anencephaly and incomplete rachischisis, an anomaly that has not been previously reported in association with NLS. Ultrasonographic detection of severe intrauterine growth restriction (IUGR), abnormally postured limbs, microcephaly, and edema allowed prenatal diagnosis of NLS in five of these at risk pregnancies during the mid-trimester. growth curves derived from serial sonograms reveal abnormalities of all standard biometric measurements. The growth discrepancy was most pronounced in the measurements of the biparietal diameter, which were consistently less than two standard deviations below the mean across all gestational ages. This case series confirms that aberrant growth and anomalies may be detected sufficiently early in gestation to permit prenatal diagnosis of NLS. ( info) |
12/179. Monocephalus diprosopus, a rare form of conjoined twins, and associated congenital anomalies. Craniofacial duplication (diprosopus) is a rare form of conjoined twins. A case of monocephalus diprosopus with anencephaly, cervicothoracolumbar rachischisis, and duplication of the respiratory tract and upper gastrointestinal tract is reported. The cardiovascular system remained single but the heart showed transposition of the great vessels. We present this case due to its rarity, and compare our pathologic findings with those already reported. ( info) |
13/179. Evidence for normal cum accessory neurenteric canals in a human fetus. Multiple anomalies, including a vertebral cleft in the cervicothoracic region containing the posterior pharyngeal diverticulum, and duplication of the lower lumbar spine with absence of sacrum and coccyx, are described in a stillborn anencephalic female monster. It is postulated that vertebral division at two levels is evidence of two neurenteric canals, a caudal normal canal and a cranial accessory one. This supports the 'accessory neurenteric canal' theory for vertebral divisions in the cervicothoracic regions. Other associated defects, such as exomphalos, ectopia vesicae and craniorhachischisis, are correlated with the presence of a single umbilical artery. ( info) |
14/179. Ultrasound in the evaluation of anencephaly. Three cases of anencephaly diagnosed in utero by ultrasound are presented and the ultrasound diagnostic criteria for anencephaly are illustrated. The literature regarding anencephaly is reviewed and the malformation discussed. Diagnostic ultrasound should be used to screen high-risk patients for this fetal anomaly. In addition, all patients clinically suspected of possible fetal malformation or polyhydramnios should be examined by ultrasound. ( info) |
15/179. anencephaly with placental attachment. anencephaly is a severe defect of development of the neuraxis that is incompatible with survival. This particular neural tube defect is characterised by the absence of large portions of the cranium. The peculiar feature in this baby is the abnormal attachment of the placenta to the site of the skull defect. ( info) |
16/179. A case of pseudo-aprosencephaly. We present a case of rare, severe brain malformations. In a microcephalic premature newborn only a small structure found in the base of the cranium corresponded to the prosencephalic part of the brain. The basal ganglia were lacking and the cortico-subcortical area changed into empty vesicles with only small fragments of cortical stripe. This picture authorises us to speak on the probably complex pathomechanism of anomalies: genetically caused malformations including underdevelopment of telencephalic nuclei and additional occurrence of extrinsic lesions leading to pseudo-aprosencephaly formation. ( info) |
| We report on two male siblings with partial trisomy 2p22-pter and partial monosomy 15q26-qter resulting from a maternally derived translocation t(2;15)(p22;q26). Both fetuses had different neural tube defects (craniorachischisis in the first fetus and anencephaly in the second fetus) which were detected by sonographic examination at the end of the first trimester of pregnancy. This report demonstrates the importance of chromosomal analysis in the etiologic exploration of neural tube defects and supports the importance of 2p24 triplication in neural tube development. ( info) |
18/179. Use of a temporary vena cava filter in a woman with septic abortion and inferior vena cava thrombosis. A case report. BACKGROUND: Ovarian vein and inferior vena cava (IVC) thrombosis are rare but life-threatening complications of severe obstetric infections. IVC filters have been used to reduce the risk of pulmonary embolus in patients who have recurrent thrombotic and embolic events or underlying risk factors. More recently, retrievable IVC filters have been used in patients in whom the risk is transient. CASE: At 18 weeks' gestation a multigravida with a fetus with anencephaly became septic after laminaria placement and rupture of the membranes. She developed ovarian vein and IVC thrombosis and was treated successfully with a retrievable IVC filter, anticoagulation and antibiotics. The filter was removed after 9 days. CONCLUSION: In young patients at transient risk for emboli and requiring placement of an IVC filter, a retrievable filter should be considered to reduce the long-term risks of an indwelling filter. ( info) |
19/179. The smile in anencephalic infants. During the period 1947-1959 twelve new-born mero-anencephalics were observed, who survived for more than 1 day after birth. Two even lived for 20 and 237 days, respectively. In 4 of the 12 children studied touching or slight pressure, and also faradic stimulation of various spots of the cerebro-vascular area were invariably followed by a facial expression which was very similar to smiling. Movies of it were shown to groups of impartial observers. In 78% the facial expression was judged to be a smile, a laugh or a grin. The neuroanatomical finding of a largely intact pontine tegmentum as being the most rostrally situated identifiable structure of the brainstem, has led to the hypothesis that the neural mechanisms underlying the smile are localized in the pontine tegmentum. ( info) |
20/179. High levels of maternal serum alpha-fetoprotein and human chorionic gonadotrophins leading to the diagnosis of combined neural tube defect and partial mole. A case of combined partial mole and neural tube defect is presented. The detection of high levels of both maternal serum (MS) alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG) during the second trimester led to the ultrasonic demonstration of anencephaly, omphalocele, and partial mole. This is the first report of combined elevation of MSAFP and MShCG. ( info) |