Triploidy: case report of a live-born male and an ethical dilemma.
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Biomedical subjects
Publications and source records attributed to M Barr.
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A case of massive fetal intracerebral hemorrhage diagnosed by sonography in the 32nd week of pregnancy is reported. The stillborn male fetus, electively delivered two days later, underwent postmortem examination, which confirmed the sonographic findings. The lesion appeared to arise from both the internal carotid and basivertebral arterial systems.
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Cervical teratomas are rare neoplasms which have been infrequently reported. During the period of July 1974 to April 1982, six newborns with this lesion were seen at the Mott Children's Hospital. There were three males and three females, all of whom presented at birth with large semicystic neck masses. In four infants, calcifications were seen on x-ray. Four patients required intubation within the first hours of life for respiratory distress. One child of 33 weeks gestation expired prior to operation because of a hypoplastic left ventricle and bilateral hypoplastic lungs. Cord blood T3 and T4 values were normal in three patients; the TSH was elevated 1.5 and 2 times normal in two of these infants. Four neonates were operated upon within 24 hours of birth and suffered no postoperative complications. One baby presented on the third day of life and expired three hours postoperatively from persistent respiratory distress. The tumors were well encapsulated and arose from or were surrounded by a lobe of the thyroid gland. In each case, the tumor was removed by performing a total thyroid lobectomy. The presence of normal thyroid tissue at the resection margin (in the isthmus) was verified by frozen section. One patient presented with cervical node metastases but is currently free of disease one year postoperatively. These six cases bring the total reported cases in the literature to 136. The 80% mortality in cases not operated upon has been reduced to 15% by prompt operation. This series substantiates the significant respiratory distress that can occur in newborns with cervical teratomas and confirms the need for emergency surgery in this group of patients.
We report seven infants of diabetic mothers, affected with holoprosencephaly malformation sequence. An additional 15 cases assembled from personal communications and the literature indicate that holoprosencephaly, like neural tube, cardiac, and caudal defects, is specifically increased in children of diabetic mothers. Incidence figures from newborn surveys demonstrate a risk for holoprosencephaly in infants of diabetic mothers comparable to the 1% risk for caudal regression malformation sequence. The embryologic timing of cranial, cardiac, and caudal defects emphasizes the need for pregnancy planning and diabetes control.
The postnatal outcome of nine patients with the prenatal diagnosis of fetal hydronephrosis is reported. In only three of the nine cases was true obstructive hydronephrosis demonstrated, and in only one of these cases (11%) the patient might have benefited from decompressive surgery at the time of diagnosis of the abnormality. Twenty-nine additional cases from the literature are reviewed. It is concluded that a major deterrent to early fetal surgery is that most of the cases of obstructive hydronephrosis are identified too late in gestation.
Torulopsis glabrata is a yeast of low virulence and commensal within the female genitourinary tract. The first case of congenital infection with Torulopsis glabrata was reported in 1980. An additional example of perinatal Torulopsis infection which is associated with maternal sickle cell anemia is reported. The most common source of congenital fungus infection is Candida albicans. Differences in morphology between T glabrata and C albicans are apparent, particularly the pathologic response within the placenta. Pathogenicity in this case may be associated with increased susceptibility to infection in patients with sickle cell anemia.
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A term female infant with intrauterine growth retardation and multiple congenital anomalies had trisomy 9 mosaicism in blood and skin fibroblast cultures. Anomalies typical of Goldenhar syndrome included an epibulbar dermoid, auricular malformation, hemifacial microsomia, vertebral anomalies, cardiac defects, pulmonary hypoplasia, renal hypoplasia, and limb defects. This case emphasizes the value of chromosomal evaluation of lateral asymmetry, the heterogenous etiology of Goldenhar syndrome, and the variable phenotypes produced by trisomy of large autosomes.
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Knowledge of a malformed fetus before the onset of labor would assist the physician in preparing the expectant parents, managing the timing and method of delivery, and preparing for the immediate care of a salvageable infant. This 3-year prospective investigation compared the activity patterns of fetuses who were later found to have major malformation with those of fetuses who had no apparent defects. Fetal motion over prolonged periods was determined by daily charting of fetal movement by the mother. Although not a reliable predictor for all malformations, evidence of fetal inactivity was found to be more common (p less than 0.0001) among fetuses with anomalies (16 of 58 cases, 28%) than among those with no defects (39 of 1,098 cases, 4%). All malformations associated with fetal inactivity were strongly suspected ultrasonographically and included hydrocephalus, gastroschisis, nonimmune hydrops, bilateral renal agenesis, and bilateral dislocation of the hips. Documentation of fetal inactivity is helpful in recognizing certain major malformations and constitutes grounds for more detailed study by ultrasonography.
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The craniofacial anatomy of an infant with facial duplication is described. There were four eyes, two noses, two maxillae, and one mandible. Anterior to the single pituitary the brain was duplicated and there was bilateral arhinencephaly. Portions of the brain were extruded into a large frontal encephalocele. Cases of symmetrical facial duplication reported in the literature range from two complete faces on a single head (diprosopus) to simple nasal duplication. The variety of patterns of duplication suggests that the doubling of facial components arises in several different ways: Forking of the notochord, duplication of the prosencephalon, duplication of the olfactory placodes, and duplication of maxillary and/or mandibular growth centers around the margins of the stomatodeal plate. Among reported cases, the female:male ratio is 2:1.
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