PubMed · 4462640
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R C Baumiller. 1974. Ethical issues in genetics.. https://pubmed.ncbi.nlm.nih.gov/4462640/
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We report on a de novo constitutional rearrangement involving the long arm of chromosome 7 in a second trimester fetus with the karyotype of 46,XX, inv dup del (7)(pter-q36::q36-q21.2:) pat. Both a large duplication (q21.2-q36) and a small deletion (within q36) were confirmed by FISH studies. DNA analysis on the family showed that the abnormal chromosome was derived from a single paternal homolog. A mechanism is proposed in light of this finding. The phenotype at autopsy was consistent with reported cases of similar duplications in chromosome 7 in that hydrocephalus, a depressed nasal bridge, low set ears, microretrognathia and a short neck were present.
A 26 year old women presented with huge enlargement of breasts from 10th week of her first pregnancy. Both breast became very swollen and painful, more than tripled in size. The skin became oedematous, red, and subsequently ulceration and bleeding occurred. Interruption performed at the 12th week, it didn't stop the process. 3 months later bilateral mastectomy with free transplantation of the nipples and the areoles to the abdominal wall was performed. The pathologic diagnosis was hyperplasia of the connective tissue elements with fibroadenomas. 6 and 8 years later she delivered healthy babies. The authors review the literature of gigantomastia during pregnancy with discussion of the treatment.
OBJECTIVES: Assess expression and management of HELLP syndrome (hemolysis, elevated liver enzymes, low platelet count) occurring before 32 weeks gestation. METHODS: Among 50 patients presenting HELLP syndrome from 1990 to 1994, 22 (44%) who developed the syndrome before 32 weeks gestation were evaluated retrospectively. RESULTS: Most of the patients were primiparous and HELLP syndrome recurred in 2 during a second gestation before 32 weeks gestation. Only three cases began during the post partum period. All patients had severe pre-eclampsia before discovery of the HELLP syndrome. Episodes of eclampsia also occurred in 6. The most frequent clinical manifestation was epigastric pain. Ten patients had acute severe renal failure. The 3 post partum patients had severe complications (eclampsia, renal failure, subcapsular hepatic hematoma). Obstetrical intervention was required in all cases. Cesarean section was performed within 48 hours of diagnosis. Pregnancy had to be terminated in 3 cases between 24 and 29 weeks gestation. There was one fetal death in utero and one during the neonatal period. Seventeen live infants were delivered. In the group of 11 infants born after 30 weeks gestation, only 1 had hyalin membrane disease which developed in all those born before 30 weeks, including 2 with broncho-pulmonary dysplasia. CONCLUSION: Based on the physiological mechanisms involved in HELLP syndrome, criteria for obstetrical extraction and the possibilities for conservative management in very premature pregnancies, we propose a management protocol for HELLP syndrome developing before 32 weeks gestation. Corticosteroid therapy may be given for 48 hours in cases without maternal or fetal complications in order to accelerate fetal maturation before extraction.