1/35. Diprosopus (partially duplicated head) associated with anencephaly: a case report.Craniofacial duplication (diprosopus) is a rare form of conjoined twin. A 16 year old mother with a twin pregnancy delivered one normally formed baby boy and one diprosopus male. The malformed baby was 33 weeks of gestation with a single trunk, normal limbs and various degrees of facial duplication. Of the following structures there were two of each: noses, eyes, ears (and one dimple), mouths, tongues and, with bilateral central cleft lips and cleft palates. This was associated with holoprosencephaly and craniorachischisis. Internal organs showed no duplication. There were multiple congenital anomalies including diaphragmatic hernia, small lungs, two lobes of the right lung, ventricular septal defect, small adrenal gland and small left kidney with short ureter. The body also had a short neck, small chest cavities and kyphosis. X-ray revealed duplication of the vertebral column. The case presented here represents a type II of diprosopia of Rating (1933) and is the least common type reported. We also reviewed 22 recently reported cases of diprosopus. In addition to facial duplication, anencephaly, neural tube defect and cardiac malformations represent the more common congenital abnormalities associated with diprosopus. The pathogenesis of diprosopus is not well understood. Factors that play a role in diprosopus are probably similar to those factors (genetic, environmental and abnormal placental circulation) which affect monozoygotic twins as observed in this case report. Early ultrasonography diagnosis of diprosopus permits one to consider a vaginal therapeutic abortion.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
2/35. Pharyngeal pituitary: development, malformation, and tumorigenesis.The development of the pharyngeal pituitary (PhP) in the fetal period was morphologically and, for the first time, immunohistochemically examined. PhP, found in every individual, begins its hormone production at the 17-18th week of gestation, that is, 4-8 weeks later than that of sellar pituitary (SP). Only 1 of 25 examined fetuses without any stigmata of developmental anomalies showed a residual pituitary fragment in the craniopharyngeal canal (craniopharyngeal pituitary, CPhP). An adult case of a rare clivus pituitary adenoma that we examined is demonstrated in discussing its relationship to PhP. Extracranial ectopic pituitary adenomas in the literature describe an exclusively sphenoid sinus/nasopharyngeal/clivus location of the tumor. Their location corresponded exactly with that of PhP, so that the origin of the tumors can be reasonably speculated as PhP, although another origin, e.g., CPhP, can not be excluded. A variety of malformations of PhP, although very rare, have been described for the fist time during the systemic examination of 16 fetuses with different cranioneural malformations, such as agenesis, unseparated PhP from SP (pharyngosellar pituitary), fragmentation, and residual pituitary tissue in the open craniopharyngeal canal. However, developmental anomaly of PhP was not specifically associated with cranioneural malformations except in cases of chromosomal aberrations. The hormone production in PhP in malformation cases tended to be retarded. Absence of SP was recorded in 50% of anencephalics in the literature; however, PhP was identified in all anencephalics in our series, independent of the existence of SP. This supports the opinion that agenesis of SP in anencephalics seems to be false information.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
3/35. prenatal diagnosis of mosaic ring chromosome 13 with anencephaly.We report on the prenatal diagnosis, genetic analysis and clinical manifestations of a second-trimester fetus with mosaic ring chromosome 13 and anencephaly. A 35-year-old, gravida 3, para 2 woman was referred for genetic counselling at 23 weeks' gestation because of an elevated maternal serum alpha-fetoprotein level of 2.386 multiples of the median. Prenatal ultrasonography showed intrauterine growth retardation and anencephaly. amniocentesis revealed a karyotype of de novo mos 46,xx,r(13)(p11q32)/45,xx,-r(13) [corrected] (77%/23%). Molecular genetic analysis by quantitative fluorescent polymerase chain reaction (PCR) with small tandem repeat markers specific for chromosome 13 rapidly confirmed the maternal origin of the aberrant chromosome and determined the breakpoint at 13q32 between D13S225 (present) and D13S147 (absent). Our present finding indicates that anencephaly can be due to mosaic r(13) with a terminal deletion of 13q32-13q34 and an additional secondary rearrangement of loss of r(13). We propose that cytogenetic analysis is beneficial and warranted in pregnancies with fetal neural tube defects.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
4/35. Ocular findings in anencephaly.We found an upper eyelid notch and posterior pole lens in a newborn anencephalic infant. An analysis of the development of the affected tissues helped localize the insult at the fifth to tenth week of gestation, probably close to the fifth week.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
5/35. amniotic fluid embolism and isolated coagulopathy: atypical presentation of amniotic fluid embolism.A 41-year-old multigravida presented at 32 weeks of gestation with polyhydramnios and an anencephalic fetus. Abnormal bleeding as a result of disseminated intravascular coagulation complicated an emergency Caesarean section for severe abdominal pain thought to be due to uterine rupture. Massive transfusion with blood products was necessary and the abdomen packed to control bleeding. The patient was transferred to the intensive care unit where she made a slow but complete recovery. amniotic fluid embolism with atypical presentation of isolated coagulopathy is the likely diagnosis in this case. The case serves to demonstrate that amniotic fluid embolism may present with symptoms and signs other than the classical pattern of dyspnoea, cyanosis and hypotension.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
6/35. 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.- - - - - - - - - - ranking = 2keywords = gestation (Clic here for more details about this article) |
7/35. 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.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
8/35. klippel-feil syndrome plus atretic meningocele in one identical twin and anencephaly in the other.klippel-feil syndrome (KFS) is a heterogeneous entity, characterized by specific congenital anomalies of segmentation of the cervical spine. We report a case of KFS plus atretic meningocele in one identical twin and anencephaly in the other. These identical twins were both male with no chromosome defect. One of them had anencephaly diagnosed at the gestational age of 17 weeks and died soon after birth, whereas the co-twin had KFS with multiple congenital anomalies including short neck with low hairline, occipital atretic meningocele, butterfly vertebrae, hemivertebrae, cervico-thoracic scoliosis, left thumb preaxial polydactyly, and right undescended testis. He received rehabilitation during infancy and could walk at the age of 15 months. Both of these infants had preaxial polydactyly, which is an uncommon anomaly associated with KFS. In conclusion, iniencephaly and anencephaly are probably the extreme manifestations of KFS rather than different dysraphisms. Prompt clinical suspicion with early diagnostic imaging for spine lesions and occult opening of neural tube is mandatory for further intervention and rehabilitation.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
9/35. anencephaly in a fetus with osteogenesis imperfecta: early diagnosis by transvaginal sonography.Early prenatal diagnosis of osteogenesis imperfecta at 14 weeks' gestation by transvaginal sonography is reported. An anencephalic fetus was found at autopsy, although on sonographic examination complete brain tissue had been observed. A possible explanation for these findings and theories on the pathogenesis of anencephaly are discussed.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
10/35. Sonographic markers of exencephaly below 10 weeks' gestation.We report two cases of exencephaly diagnosed by transvaginal ultrasonography at 8 weeks 4 days and at 9 weeks 3 days of gestation. Both cases presented an irregular cephalic pole, and, in the case seen at 8 weeks 4 days, brain vesicles were also absent, whereas in the case seen at 9 weeks 3 days, the midline echo was indistinguishable with disorganized choroid plexuses. In both cases, anencephaly was evident at 11 and 12 weeks' gestation and the postmortem confirmed the diagnosis.- - - - - - - - - - ranking = 6keywords = gestation (Clic here for more details about this article) |
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