[Significance of prenatal diagnosis of fetal choroid plexus cysts].
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Biomedical subjects
Publications and source records attributed to Z Appelman.
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A case of congenital short femur in an otherwise healthy infant is described. Antenatal sonographic diagnosis was made at 26 weeks of gestation. The left femur was shorter than the right (ratio 0.82-0.85). In this case, the occurrence of congenital short femur was sporadic. The diagnosis was confirmed after delivery. This case illustrates the importance of ultrasound as an early detector of certain congenital anomalies and as a useful tool in their follow-up.
Two cases of severe hemolytic disease of the newborn due to c-isoimmunization are presented. Both women were multiparous, had previous blood transfusion and high maternal titers of anti-c (1:1024 and 1:4036, respectively).
Two infants with the cerebrohepatorenal (Zellweger) syndrome in Karaite families are described. This syndrome has an autosomal recessive mode of inheritance with an estimated incidence of between 1:25,000 and 1:100,000 live births. In addition to a previous report of the syndrome in a Karaite family, this report raises the possibility of a high incidence of Zellweger Syndrome among the Karaites in Israel.
Chromosomal mosaicism is one of several unanswered dilemmas in first-trimester prenatal diagnosis. We report the course of a pregnancy in which a normal karyotype was detected on direct CVS preparation and fetal blood, 100 per cent trisomy 21 in one long-term CVS culture, and low-rate trisomy 21 mosaicism in a second long-term CVS culture and amniocentesis. The phenotypically normal infant had a 6 per cent mosaicism of trisomy 21. It appears that a persistent low-rate mosaicism in different tissues may be indicative of the true status of the fetus.
Two fetuses at risk for glucose-6-phosphatase deficiency had in utero liver biopsies. Analysis of each showed this enzyme activity to be in the normal range and the pregnancies continued. Neither child has any clinical or metabolic evidence of glucose-6-phosphatase deficiency.
Nonimmune hydrops fetalis may be associated with an elevated amniotic fluid delta OD450. Cases of I-cell disease (mucolipidosis II), lethal multiple pterygium syndrome, and alpha-thalassemia are presented, each associated with nonimmune hydrops fetalis and an elevated delta OD450. An elevated delta OD450 does not always indicate isoimmunization, and may be due to increased red blood cell turnover for a variety of reasons associated with nonimmune hydrops fetalis.
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During 14 years, 430 women with some type of congenital uterine malformation were discovered by different methods, with a rate of 1 in 137 deliveries. In only 17 was metroplasty indicated, because of very poor reproductive performance; out of 42 desired pregnancies, only 14.3% live births resulted. The abortion rate was 65.2%, and there were 13% premature deliveries. The operations performed included the Strassmann type in 13, the Tompkins technique in three and the Jones operation in one. After the metroplasty, out of 27 completed pregnancies the rate of abortions fell in 14.8% (P less than 0.00003) and the rate of live births rose to 85.2% (P less than 0.00003). There is no doubt that when the indication for metroplasty is strictly imposed, the staff is well versed in the different types of operations and the treatment is done in a center which has acquired competence, the improvement in reproductive performance can be quite impressive.
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