Vaginal misoprostol compared with vaginal gemeprost in termination of second trimester pregnancy. A randomized trial

This case report details a single patient with pure red cell aplasia (PRCA) associated with clonal CD3+, TCRalphabeta+, TCR-Vbeta8+, CD8+, CD57+ large granular lymphocytosis whose anaemia did not respond to conventional immunosuppressive therapy but did respond to cyclosporin A (CsA). The patient has become dependent on CsA for 7 years in order to control anaemia due to associated PRCA.     

Prenatal ultrasonic diagnosis during the first pregnancy trimester

A case in which routine transvaginal sonography detected a rare fetal obstructive uropathy, bladder outlet obstruction at 12 weeks' gestation is reported. The ultrasonic appearance of the malformation is discussed and intrauterine therapeutic approaches are reviewed.     

Congenital perilymphatic fistula and associated middle ear abnormalities

An analysis of central microbial keratitis with respect to etiology, recovery, complications and visual outcome was carried out in Gothenburg, Sweden, during a 3-year period. Gram positive bacteria were found in 22 out of 48 cases; Staphylococcus aureus and Staphylococcus epidermidis accounted for more than 50% of these Gram positive cases. Pseudomonas was the most common Gram negative bacterium. No case with etiology of fungus was found. The contact lens wearers showed mainly the same bacterial spectrum as non-wearers. The initial 'shotgun' therapy with cefuroxime and gentamycin seemed adequate for this bacterial spectrum. Seventy percent of the eyes healed within 3 weeks. Contact lens wear and trauma were found to be the two major predisposing factors in the cases with microbial keratitis. The lens wearers had shorter recovery times than the non wearers. The visual results after one month were good in 50% of the eyes, and another 12% attained useful vision.     

Maternal serum screening for trisomy 18 in the first trimester of pregnancy

It is widely accepted that thrombocytopenia associated with liver cirrhosis is caused by increased platelet destruction in the enlarged spleen, but this issue has not yet been analysed sufficiently in terms of platelet production. Thrombopoietin is produced mainly in the liver and strongly promotes platelet production. We studied serum thrombopoietin and the levels of its mRNA in liver tissue of cirrhotic patients and also in a rat model of liver cirrhosis. Furthermore, to clarify the influence of the spleen, we investigated thrombopoietin mRNA in splenectomized rats. The serum thrombopoietin level in humans with liver cirrhosis was not significantly reduced instead of thrombocytopenia. The expression of thrombopoietin mRNA in liver tissue decreased with the progression of liver cirrhosis in both patients and the rat model and no compensatory expression was observed in other organs or non-parenchymal cells. The level of thrombopoietin mRNA did not differ significantly in splenectomized cirrhotic rats before or after administration of dimethylnitrosamine, but was lower than that in splenectomized rats without cirrhosis. We conclude that thrombocytopenia in liver cirrhosis is caused not only by platelet destruction but also by decreased platelet production, perhaps due to reduction of thrombopoietin mRNA in the liver.     

Pre-rupture diagnosis and management of rudimentary horn pregnancy in the first trimester

We analyzed the hemoglobins of a Japanese girl with beta-thalassemia and those of her immediate family. DNA sequencing of the cloned beta-globin gene from this patient revealed a point mutation at the IVS-I position 1 (G-->T). This rare point mutation has been found in Asian Indians, but this is the first reported Japanese case.     

Low maternal serum levels of pregnancy associated plasma protein A (PAPP-A) in the first trimester in association with abnormal fetal karyotype

OBJECTIVE: To assess the relation between maternal serum pregnancy associated plasma protein A (PAPP-A) in the first trimester and the outcome of pregnancy by karyotype. DESIGN: A retrospective study of PAPP-A levels in blood samples collected prior to chorionic villus sampling. SETTING: Milan, Italy. SUBJECTS: Five hundred twenty-two women aged 20 to 47, at 7 to 11 weeks gestation, prior to undergoing chorionic villus sampling. Four hundred forty-five women had a pregnancy with a normal karyotype; in 30 pregnancies the karyotype was abnormal (including 14 cases of Down's syndrome and 7 of trisomy 18). MAIN OUTCOME MEASURES: Normal or abnormal fetal karyotype. Serum PAPP-A at 6 to 11 weeks gestation measured by radioimmunoassay. RESULTS: The median value of PAPP-A in the abnormal group was 0.27 multiples of the normal median (MoM). This is significantly lower than the median value in the normal group (1.01 MoM) (95% CI for the difference 0.46-0.84 MoM; P < 0.00001 Mann-Whitney test). CONCLUSIONS: There is an association between low levels of PAPP-A in the first trimester with chromosome anomalies. Screening by measurement of PAPP-A might detect 60% of cases of Down's syndrome in the first trimester with a false positive rate of 5%.     

Trisomy 18 anomalies on sonography and calculated risk of chromosomal abnormalities during first trimester

Trisomy 18 is a chromosomal disorder giving multiple anomalies. Its frequency depends on maternal age. We report a 28-year-old woman in her first pregnancy, who underwent first trimester scanning for screening. Due to increased nuchal translucency and exomphalos, chorionic villous sampling was performed. Cytogenetic diagnosis was trisomy 18 and termination of pregnancy was carried out immediately.     

Pregnancy-associated plasma protein A in first trimester of diabetic pregnancy and subsequent fetal growth

OBJECTIVE: To describe a case of recurrent chyluria and review the diagnostic and therapeutic methods. METHODS/RESULTS: A case of non parasitic recurrent chyluria is presented. Retrograde pyelography demonstrated pyelolymphatic reflux. The patient presented chemical pyelitis secondary to the contrast medium which caused remission of the condition. CONCLUSIONS: Chyluria is uncommon in our setting. Postprandial cystoscopy permits identification of the compromised renoureteral unit and perform pyelic instillation of sclerosing agents. Surgery should be reserved for those cases in whom conservative management has failed.     

Screening for trisomy 21 by measuring nuchal translucency during the first trimester of pregnancy

The purpose of the present literature review is to assess the screening value of trisomy 21 by measurement of fetal nuchal translucency (NT) thickness in the first trimester. NT is a subcutaneous translucency between the skin and the soft tissues overlying the cervical spine, which disappears in the second trimester. Ultrasound examination was used to image a sagittal section of the fetus to measure the maximum thickness of the subcutaneous translucency. NT is physiological for a measurement < 3 mm but the incidence of chromosomal abnormalities (essentially trisomies 21, 18 and 13) increases when NT > or = 3 mm. Differential diagnoses include cystic hygroma and fetal hydrops. For screening purposes, a cut-off threshold value of > or = 3 mm, with a standardized technique, gave a sensitivity > or = 50%, a false positive rate < 5% and a positive predictive value > 1%. In the chromosomally normal group, prognosis was good, but incidence of structural defects and fetal loss increased, with a sharp rise in these complications for fetal translucency thickness > or = 5 mm.     

Rapid prenatal diagnosis of Down's syndrome in the first trimester of pregnancy by fluorescence in situ hybridization

OBJECTIVE: To assess whether fluorescence in situ hybridization (FISH) with chromosome 21, specific DNA probe is applicable as a prenatal diagnostic tool for Down's syndrome. METHOD: We used FISH with chromosome 21 specific probe on 30 uncultured chorionic villi cell samples to detect the Down's fetus, and we also performed the conventional chromosome analysis of chorion cells from parallel samples. RESULTS: In samples with disomic karyotype, an average of 1 percent (0-5 percent) of the nuclei had three hybridization signals. By contrast, in the samples of trisomy 21 fetus, an average of 86 percent (78-91 percent) of the nuclei displayed three signals. CONCLUSION: FISH can provide a rapid and accurate method for the first trimester prenatal diagnosis of Down's syndrome.     

Early pregnancy termination with mifepristone and misoprostol in the United States

BACKGROUND: Mifepristone and a prostaglandin have been used successfully to terminate pregnancy in Europe and China. We report the results of a large U.S. study of mifepristone and misoprostol in women with pregnancies of up to nine weeks' duration. METHODS: We administered 600 mg of mifepristone and then 400 microg of misoprostol two days later to 2121 women seeking termination of their pregnancies at 17 centers. The women were observed for four hours after the administration of misoprostol and returned on day 15 for final assessment. RESULTS: Two thousand fifteen women completed the final assessment. Among them, pregnancy was terminated in 762 of the 827 women pregnant for < or =49 days (92 percent), 563 of the 678 women pregnant for 50 to 56 days (83 percent), and 395 of the 510 women pregnant for 57 to 63 days (77 percent) (P<0.001). Termination occurred within 4 hours after the administration of misoprostol in 49 percent of the women and within 24 hours in 75 percent. Failures, defined as cases requiring surgical intervention for medical reasons or because the patient requested it, the abortion was incomplete, or the pregnancy was ongoing, increased with increasing duration of pregnancy. The largest increase was in failures representing ongoing pregnancy, which increased from 1 percent in the < or =49-days group to 9 percent in the 57-to-63-days group (P<0.001). Abdominal pain, nausea, vomiting, diarrhea, and vaginal bleeding also increased with advancing gestational age. Two percent of the women in the < or =49-days group, as compared with 4 percent in each of the other two groups, were hospitalized, underwent surgical interventions, and received intravenous fluids (P=0.008). CONCLUSIONS: This mifepristone-misoprostol regimen is effective in terminating pregnancies, especially in women with pregnancies of 49 days' duration or less.     

Cellular development of some embryonic organs and the chorion during the first trimester of human pregnancy

The DNA, RNA and protein content of chorionic tissue, heart, liver, kidney, lung and brain was estimated in 27 fetuses obtained at termination of pregnancy between 50 and 105 days of menstrual age. For brain, heart and liver, growth appeared to be most rapid at the earliest period studied (50 to 60 days) whereas kidney and lung development was most rapid later in the first trimester. It is suggested that these periods of particularly rapid growth may be the times at which those tissues are most vulnerable to injury.     

Congenital anomalies associated with hypospadias

We did a retrospective survey on 200 patients with hypospadias to determine what other congenital anomalies were present. The 56 patients with associated anomalies included 16 who had abnormal excretory urograms and 10 of these 16 patients had defects requiring surgical correction.     

Congenital megalourethra associated with hypospadias

Megalourethra is an extremely rare congenital anomaly. Association with hypospadias has not been previously noted. It is essential that this condition be recognized so that circumcision is not performed. More importantly, other congenital anomalies must be suspected. One-stage surgical repair of the condition is not difficult and generally offers good results.     

Erythropoietin and the inhibitor of erythropoiesis in the amniotic fluid during the first trimester of normal human pregnancy

The erythropoietic activity of the amniotic fluid from the 1st trimester of pregnancy and of blood plasma of pregnant women was tested biologically on polycythaemic mice by means of radiolabelled 59Fe. It was found that the amniotic fluid exhibits an erythropoietic activity. Then, using Sephadex G-100 gel filtration several fractions of the fluid were separated chromatographically; they were tested on polycythaemic mice for their erythropoiesis-stimulatory and inhibitory activity. It was found that fraction II proteins (mol. w. about 38 000) acted as an erythropoiesis stimulator, while fractions V and VI (mol. w. 6 900 and 4 000, respectively) showed inhibitory properties.     

Congenital adrenal hyperplasia in pregnancy

The congenital adrenal hyperplasias (CAH) are a group of inherited enzymatic defects of adrenal steroid biosynthesis. Deficiencies of each enzyme required in the steroid biosynthesis pathway are known, and these deficiencies are all inherited as autosomal recessive disorders. During pregnancy, maternal and fetal problems are confined to women who have 21-hydroxylase deficiency (P450c21 deficiency), 11-hydroxylase deficiency (P450c11 deficiency), and 3 beta-hydroxysteroid dehydrogenase deficiency (3 beta HSD deficiency), because other adrenal enzyme deficiencies are not compatible with fertility. The interposition of the placenta on the hypothalamic-pituitary-adrenal axis and other endocrine changes during pregnancy impact considerably on the clinical evaluation of the congenital adrenal hyperplasias. Successful management of CAH in pregnancy requires a firm knowledge of normal adrenal anatomic and endocrine changes that occur during gestation. Women with severe forms of CAH have decreased fertility rates because of oligo-ovulation, and successful conception requires a combination of good therapeutic compliance, careful endocrine monitoring, and often ovulation induction. From a fetal and neonatal standpoint, accurate prenatal diagnosis of 21-hydroxylase deficiency and 11-hydroxylase deficiency is now possible, which allows for prenatal treatment in an attempt to minimize clinical problems in the neonates. Prevention of masculinization of affected female fetuses by corticosteroid suppression has been attempted in both 21-hydroxylase deficiency and 11beta-hydroxylase deficiency CAH, with variable degrees of success. This review provides an overview of the congenital adrenal hyperplasias and their management during pregnancy.     

Chromosome abnormalities associated with recurrent abortion

A continuous flow analysis system for the preconcentration of Cu2+ and/or Cd2+ in water was developed. Trace copper or cadmium in water could be concentrated on activated carbon particles packed in micro column at pH > or = 9.0. The adsorbed analyte was eluted with 0.5 ml 2.5% nitric acid and determined by flame atomic absorption spectrometry. A sample size of 10-25 ml sufficed for the determination of copper2+ or cadmium at a level as low as microgram/L. The relative standard deviation of 6 parallel determinations was 4.3% for copper and 11% for cadmium. The proposed method was applied to the determination of copper and cadmium in natural water with a recovery of 84.4%-118%.     

Maternal urinary free beta-subunit of human chorionic gonadotrophin: creatinine ratios and fetal chromosomal abnormalities in the second trimester of pregnancy

We observed a 56-year-old woman with Kartagener's syndrome and severe seropositive rheumatoid arthritis. This is the third case of such association in the world literature and a second one being diagnosed in our Department. The patient was also as the previous one a carrier of HLA DR1 and B27 antigens. An electromicroscopic study showed normal bronchial cilia in contrast to classical course of the disease. A number of immunological disturbances were observed, especially defective granulocyte function. We suggest that the severe course of rheumatoid arthritis may be related to the chronic stimulation of immune system by microbes continuously present in the patients airways.     

Congenital dysfibrinogenemias: molecular abnormalities of fibrinogen

O antigen extracted from whole cells of Bacteroides fragilis ss. fragilis NCTC 9343 with 45 per cent aqueous phenol has been purified by gel filtration and chromatography. First, the water phase was treated with RNase and DNase and passed through a column of agarose. The chromatographic procedures included ion exchange on a column of DEAE-cellulose and adsorption to hydroxylapatite. The O antigen was eluted from the DEAE-cellulose with a gradient of NaCl, and from the column of hydroxylapatite with 1 M phosphate buffer, pH 6.8. Inhibition of indirect haemagglutination was used to detect the O antigen in the eluates.     

Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984)

Limb deficiency defects (LD) occurring among 1,575,904 births in Hungary during 1975-1984 were reviewed. The overall birth prevalence of LD was 1 in 1,816. This paper discusses the nature and distribution of the limb and other defects in the 275 (32%) children who had structural malformations in other systems. Two main forms of classification were used: morphologic and causal. Additional malformations were most commonly seen in infants with amelia, rudimentary limb (RL), radial/tibial (RT), intercalary or central axis (CA) LD and rarely in those with terminal transverse (TT) or ulnar/fibular (UF) defects. Upper limbs (81%) were involved significantly more often than lower limbs (42%) and there were more right-sided defects (83% vs. 71%) due to an excess of right arm involvement especially with radial ray and split hand anomalies. Single limb involvement was relatively common with amelia (88%), UF (82%), RT (50%), and TT (50%) defects. With other LD, multimelic involvement was more characteristic. This was usually symmetric with intercalary and RL defects but asymmetric with CA anomalies and digital deficiencies (DD). From a causal perspective, 17% of cases had genetic disorders, 52% had recognized associations, anomalies, sequences, environmental causes or patterns of unknown origin, and 31% had unknown patterns of malformations. The commonest entities were amnion disruption sequence (16% of cases) and VACTERL association (8%). Both of these disorders showed unusual temporal distribution. As anticipated, patterns of malformations differed with the type of LD. Amelia and digital amputations were often seen with body wall defects, atypical anencephaly or encephalocele, and cleft lip reflecting amnion disruption. Rudimentary limb was seen with anencephaly, omphalocele, renal agenesis, aberrant genitalia, and imperforate anus, reflecting defects of blastogenesis including the cloacal exstrophy and caudal regression sequences and Schisis association. Radial/tibial defects were associated with different patterns depending on whether the limb defects were unilateral or bilateral. Unilateral defects occurred with anomalies suggesting VACTERL association or the facio-auriculo-vertebral anomaly, while bilateral defects occurred more often in genetic or potentially genetic disorders including VACTERL with hydrocephalus. Central axis defects showed three main patterns of association: one reflecting the ectrodactyly-ectodermal dysplasia-clefting syndrome; one with tongue anomalies representing a variant of oro-mandibular-limb (Hanhart) anomaly, and the last with hydronephrosis indicating a group of "acro-renal" syndromes. Strong associations with other anomalies were not seen in the groups with TT, UF, or intercalary defects.