Screening for gestational diabetes in Sicily.

OBJECTIVE: To establish the prevalence of gestational diabetes in a universally screened population living in Messina, Sicily, as the first step in evaluating the cost: benefit ratio of screening for carbohydrate intolerance in pregnancy. STUDY DESIGN: Between October 1989 and March 1995, 1,000 pregnant women underwent screening for gestational diabetes with a 50-g, one-hour glucose challenge test. All the risk factors were registered. RESULTS: Two hundred sixty subjects had a value of > or = 135 mg/dL and underwent a full three-hour oral glucose tolerance test. Of them, 46 (4.6%) met the Carpenter-Coustan diagnostic criteria for gestational diabetes. CONCLUSION: The apparent incidence of gestational diabetes (1.2%) prior to screening was only 25% of the incidence determined with the protocol of universal screening (4.6%). If we assume that timely diagnosis and treatment of gestational diabetes provides an important opportunity to improve obstetric outcome and reduce perinatal morbidity, and since women with gestational diabetes are at increased risk of developing diabetes later, the knowledge that the true prevalence is almost four times that previously reported is a determinant of a future evaluation of the cost:benefit ratio of screening universally for gestational diabetes.

[Serum Ca-125 levels in aneuploidy screening in first pregnancy trimester. Authors' experience]. / Valore del Ca-125 nello screening delle aneuploidie nel primo trimestre di gestazione. Nostra esperienza.

BACKGROUND: The aims of the current study were to investigate the value of Ca-125 maternal serum levels at the first trimester of pregnancy in order to test heir usefulness for the screening of foetal aneuploidies. MATERIALS AND METHODS: The study was performed retrospectively on frozen maternal serum samples obtained in the antenatal clinics of the department of obstetrics and gynaecology: 85 control normally cycling women, 479 pregnant over 36 years from 8th to 12th week of pregnancy underwent the villocentesis, 383 pregnant women aged from 19 to 45 years underwent the "tritest" (AFP = alpha-fetoprotein, hCG = human chorionic gonadotropin, fE3 = free estriol, age) for the screening of the Down syndrome in the second trimester of pregnancy. All newborns have been tested by Apgar score. The immunoradiometric (IRMA) Ca-125 assay was performed without knowing the result of the cytogenetic test. Over all we have had 11 patients with aneuploidy, 7 Down, 3 Edwards and 1 Patau. The levels of Ca-125 are expressed as MoM multiple of median) in order to compare the levels at different gestational age. RESULTS: We had no significant differences between normal and pathological pregnancies, therefore we don't reckon the Ca-125 assay useful in the screening of aneuploidies in the first trimester of pregnancy.

Renal function evaluation in an adult female with cat-eye syndrome.

Cat-eye syndrome is a rare congenital anomaly involving the kidney. It is rarely reported in literature, while renal function has never been studied up to now. Shown here are the morphofunctional renal alterations observed in a female patient affected by cat-eye syndrome.

[The hand-foot-uterus syndrome. A report of a case with recessive autosomal inheritance]. / Sindrome mano-piede-utero. Descrizione di un caso ad ereditarietà autosomica recessiva.

The authors report a new case of hand-foot-uterus syndrome, an infrequent and peculiar clinical condition characterized by skeletal anomalies of the extremities associated with alterations in the development of Mullerian derivation structures. The female patient in fact present morphological and skeletal anomalies to the extremities and a bicornate, twin-necked uterus with double vagina. This genetic condition is normally transmitted with a autosomal dominant pattern. The consanguinity of the parents and the absence of other like cases in the family led the authors to suppose that this is an even rarer form with a recessive autosomic-type inheritance. The importance of an accurate diagnosis is underlined not only to ensure better management, but above all for a more appropriate examination of their reproductivity.

Testicular regression syndrome. A case report.

Testicular regression syndrome occurred in a 20-year-old, white, phenotypic female with a 46,XY karyotype. The basal levels of serum gonadotropins were elevated, while the testosterone was in the normal range. Estrogens were undetectable. At laparotomy no gonadal rudiments or müllerian or wolffian derivatives were found. The logical diagnosis was late embryonic testicular regression with a specific testicular insult 62-63 days after fertilization.

A 45,X male with molecular evidence of a translocation of Y euchromatin onto chromosome 1.

A 45,X complement was found in lymphocyte and fibroblast cultures of a male infant with severe growth and mental retardation and mild dysmorphism. Lymphocyte DNA from this patient was found to contain Yp chromosome sequences. In situ hybridization (ISH) with the 50f2 probe led to a clear assignment of euchromatic material on the short arm of chromosome 1. This observation and others from the literature argue in favour of the conclusion that all 45,X males are probably either the result of undetected mosaicism or are carriers of Y translocated material.

[Spontaneous abortion and advanced maternal age]. / Abortività spontanea ed età materna avanzata.

A retrospective analysis of pregnancy outcome after demonstration of a live fetus in the first trimester was carried out in 387 patients to establish a background loss rate and evaluate the safety of chorionic villus sampling. The present study proves an increased risk of spontaneous abortion with increasing maternal age, and a miscarriage rate (9.81%) higher than chorionic biopsy (4.4), probably because the therapeutic abortions and the sonograms were performed after bleeding.