The treatment with Levonorgestrel Releasing Intrauterine System (LNG-IUS) in patients affected by menometrorrhagia, dysmenorrhea and adenomimyois: clinical and ultrasonographic reports.

OBJECTIVE: Adenomyosis is the consequence of the myometrial invasion by endometrial glands and stroma. Transvaginal ultrasonography plays a decisive role in the diagnosis and monitoring of this pathology. Our study aims to evaluate the efficacy of LNG-IUS (Levonorgestrel Releasing Intrauterine System) as medical therapy. We analyzed both clinical symptoms and ultrasonographic aspects of menometrorrhagia and dysmenorrhea in patients with adenomyosis and the control group. PATIENTS AND METHODS: A prospective cohort study was carried out on 28 patients suffering from symptomatic adenomyosis treated with LNG-IUS. Adenomyosis was diagnosed through transvaginal ultrasonography by an expert sonographer. A control group of 27 symptomatic patients (menorrhagia and dysmenorrhea) without a transvaginal ultrasonographic diagnosis of adenomyosis was treated in the same way. The two cohorts were compared to the efficacy of LNG-IUS on menorrhagia and dysmenorrhea.  Patients are evaluated at the time of LNG-IUS insertion and six months after for: increased uterine volume, globulous uterine morphology, uterine symmetry, alterations in the junctional zone, heterogeneous myometrial texture, presence of myometrial cysts, hyperechogenic lines crossing the myometrium, adenomyomas, menstrual blood loss and dysmenorrhea. RESULTS: After six months, the uterine volume decreased significantly in both cohorts (p=0.005; p=0.005). Furthermore, uterine symmetry, visibility of the junctional zone, heterogeneity of myometrial texture, presence of myometrial cysts, hyperechogenic lines and adenomyomas improved in patients affected by adenomyosis (p>0.001; p>0.001; p>0.001; p=0.014; p=0.025; p=0.014). The blood loss decreased significantly in both the cohorts (p<0.001) and particularly in adenomyotic patients. Pain relief was observed in all the patients (p<0.001). CONCLUSIONS: LNG-IUS can be considered an effective treatment for managing symptoms and improving uterine morphology.

The influence of ovulation induction and assisted conception on maternal and perinatal outcomes of twin pregnancies.

OBJECTIVE: To compare obstetrical and neonatal outcomes of twin pregnancies conceived via assisted reproductive technology (ART) with those of naturally conceived ones and to investigate the influence of the ART procedure type on these parameters. PATIENTS AND METHODS: This observational study included 450 ART and 647 spontaneous twin pregnancies delivered over 15 years at a single university-based hospital of Rome, Italy. Logistic and linear regression models adjusted for confounding factors were used to evaluate the effect of ART and the type of assisted conception (IVF/ICSI, ovulation induction ± intrauterine insemination, egg/embryo donation) on maternal and perinatal outcomes. RESULTS: The mean gestational age was significantly lower in pregnancies conceived via ART. The occurrence rates of gestational diabetes, antenatal admission, prophylactic administration of corticosteroid, very preterm delivery and neonatal intensive care unit admission were higher in the ART group. Twin pregnancies achieved via egg/embryo donation had a lower risk of maternal thrombocytopenia and cervical incompetence and were at greater risk of receiving corticosteroid prophylaxis and patent ductus arteriosus than pregnancies obtained by IVF/ICSI. Conception by ovulation induction was associated with reduced risk of hyperemesis gravidarum and longer neonatal hospitalization compared to pregnancies obtained by IVF/ICSI. CONCLUSIONS: Assisted conception was associated with adverse obstetrical outcomes and lower gestational age, but after adjustment for gestational age neonatal immediate outcomes were similar to those observed in the spontaneous group. There were no many important differences in the outcomes of twin pregnancies obtained by a different type of conception.

A dizygotic twin pregnancy in a MODY 3-affected woman.

BACKGROUND: MODY diabetes includes rare familiar forms due to genetic mutations resulting in ß-cell dysfunction. MODY 3 is due to mutations in the gene transcription factor HNF-1α, with diabetes diagnosis in adolescence or early adult life. Few data are available about MODY 3 in pregnancy. CASE REPORT: A 36-year-old Italian woman came to our unit at the 5th week of pregnancy. She was diagnosed with diabetes at 18 years, with negative autoimmunity and a strong familiarity for diabetes. She was treated with gliclazide and metformin. She had a previous pregnancy in which she was treated with insulin, giving birth at 38 weeks to a 3.210 kg baby girl, who showed neonatal hypoglycemia. We switched her to insulin treatment according to guidelines. We asked for genetic molecular testing, resulting in a HNF-1α gene mutation. A US examination at 7 weeks revealed a twin, bicorial, biamniotic pregnancy. At 37 weeks of gestation, she gave birth to two normal-weight baby girls; only one showed neonatal hypoglycemia and a genetic test revealed that she was affected by HNF-1α gene mutation. Subsequently, entire family of the woman was tested, showing that the father, the sister and the first daughter had the same HNF-1α mutation. DISCUSSION: A MODY 3 foetus needs a near-normal maternal glycemic control, because the exposure to intrauterine hyperglycemia can lead to an earlier age of diabetes onset. Neonatal hypoglycemia is generally observed in MODY 1 infants, but it is possible to hypothesize that some HNF-1α mutations could lead to a functionally impaired protein that might dysregulate HNF-4α expression determining hypoglycemia.

Feasibility of office CO2 laser surgery in patients affected by benign pathologies and congenital malformations of female lower genital tract.

OBJECTIVE: Traditional surgery presents some disadvantages, such as the necessity for general anesthesia, hemorrhage, recurrence of pathology, and the possible onset of dyspareunia due to an excessive scarring. CO2 laser surgery might resolve these problems and might be employed in a wider range of clinical indications than usual. We examined the results of CO2 laser surgery in patients affected by benign pathologies and congenital malformations of the female lower genital tract. PATIENTS AND METHODS: In this observational study, we enrolled 49 women who underwent CO2 laser surgery for the following indications: Bartholin's gland cyst, imperforate hymen, vaginal septum, Nabothian cyst, and vaginal polyps. Feasibility, cost-effectiveness, complication rate, recurrence rate, short- and long-term outcomes were assessed. RESULTS: All procedures were carried out in a short operative time, without any intraoperative complications. Only 1 (2.0%) out of 49 patients required a hemostatic suture for bleeding. Postoperative period was uneventful in all patients, except 6 (12.2%) out of 49 patients who reported pain one day after surgery, successfully treated with paracetamol. Healing was rapid and excellent in all cases; no wound infection, scarring or stenosis were noticed. Preoperative symptoms reduced or disappeared in all cases. No recurrence was observed and no re-intervention was needed. CONCLUSIONS: CO2 laser surgery provides several advantages over traditional surgery, as its systematic use in treating pre-invasive, benign, and congenital pathologies of the female lower genital tract reduces patient discomfort, improves short- and long-term outcomes, and optimizes cost-effectiveness.

Diagnostic accuracy of sonohysterography vs hysteroscopy in benign uterine endocavitary findings.

OBJECTIVE: To compare diagnostic accuracy of sonohysterography vs hysteroscopy in patients with benign uterine endocavitary findings. PATIENTS AND METHODS: This retrospective study evaluated 202 patients submitted to sonohysterography after transvaginal ultrasound examination suspicious for uterine endocavitary findings. Cytological sample was taken and analyzed from the fluid used to distend the uterine cavity. Of 202 patients enrolled for this study, 86 patients underwent gynaecological surgery, of whom 77 were treated with operative hysteroscopy and 9 with other gynaecological surgical techniques. Statistical analysis was performed to evaluate diagnostic agreement between sonohysterography vs hysteroscopy and cytology vs histology. RESULTS: Diagnostic concordance between sonohysterography and hysteroscopy was significant (k value 0.87). The correlation between cytological and histological findings had a moderate level of concordance (k value 0.49). CONCLUSIONS: Sonohysterography provides a diagnostic accuracy as well as hysteroscopy, therefore, it could be considered an alternative procedure in the diagnosis of benign uterine endocavitary findings.

Occurrence of malignancy in endometrial polyps during postmenopause.

OBJECTIVE: To evaluate the occurrence of endometrial polyp malignancy in pre- and postmenopausal women with or without symptoms. MATERIALS AND METHODS: A retrospective study was performed on 351 patients with endometrial polyps diagnosed by hysteroscopy. RESULTS: Histological findings of biopsies obtained by operative hysteroscopy confirmed the presence of a simple endometrial polyp in 179 cases, polyps with typical simple hyperplasia in 42 cases, polyps with typical complex hyperplasia in 24 cases, polyps with atypical complex hyperplasia in three cases; carcinomatous polyps in seven cases; atrophic polyps in 17 cases; functional polyps in 56 cases; and inadequate sample in 23 cases. All seven patients with adenocarcinoma were symptomatic; six out of seven patients with adenocarcinoma were in postmenopause and one was in premenopause. The association between menopausal status and symptoms, and the presence of a malignant lesion was statistically significant (p < 0.001). CONCLUSIONS: This study revealed that prevalence of endometrial polyp malignant transformation was < or = 2.84% in postmenopausal and symptomatic patients.

Visual evoked potentials in infants of diabetic mothers: relations to clinical and metabolic status during pregnancy and delivery.

OBJECTIVE: To evaluate Visual Evoked Potentials (VEPs) and psychomotor development of infants of diabetic mothers (IDMs) in relation to clinical and metabolic data during pregnancy and delivery. METHODS: VEPs and psychomotor development (Brunet-Lézine) were analysed in 40 two-month-old IDMs (21 males, 19 females), 24 from mothers with type-1 diabetes, 13 gestational diabetes, and 3 type-2 diabetes. Normative VEP data were obtained from 63 age matched controls. RESULTS: VEP latencies were significantly longer in IDMs than in controls (O1 wave IV=197.9+/-35.5 vs 155.3+/-30.3; P<0.001; O2 wave IV=200.2+/-33.8 vs 155.6+/-29.0; P<0.001). The mean developmental quotient was normal. In IDMs with type-1 diabetes delayed VEPs were related to increased weight during pregnancy (r 0.516; P 0.009), 1st trimester fasting blood glucose (r 0.458; P 0.037), insulin requirement during the 2nd (r 0.441; P 0.035) and 3rd trimester (r 0.422; P 0.039); in IDMs with gestational diabetes, VEP latency showed negative relation to Apgar scores (r -0.748; P 0.008). CONCLUSIONS: IDMs have delayed VEPs, which may possibly be related to poor metabolic control in pre-gestational diabetes, and to delivery complications in gestational diabetes. SIGNIFICANCE: IDMs show subtle neurophysiologic changes detectable by VEPs.

Thrombotic thrombocytopenic purpura and pregnancy: a case report and a review of the literature.

Thrombotic thrombocytopenic purpura (TTP) is a severe disorder affecting the microcirculation of multiple organ systems. Plasma therapy has significantly reduced the mortality rate. Infections, pregnancy, cancers, drugs, and surgery were frequently associated with the initial episodes and relapses. Women who are either pregnant or in the postpartum period make up 10-25% of TTP patients, suggesting the interrelationship between TTP and pregnancy. The introduction of aggressive treatment with plasma transfusion or plasmapheresis improved maternal and fetal survival rates. We describe a case of a first successful pregnancy concomitant to a late relapse of TTP, in which the identification of important risk factors for both TTP and pregnancy allowed us easier hematological and obstetrical management. Proposed guidelines for pregnancy-related TTP management and a brief review of current treatment options for this rare condition are also included.

Successful diagnostic and surgical hysteroscopy for endometrial ossification.

PURPOSE OF INVESTIGATION: Diagnostic-operative hysteroscopy was successful in two cases of endometrial ossification, and fertility was restored. METHODS: A 30-year-old and a 32-year-old woman presented at our Department with a history of secondary infertility, complaining of pelvic pain, dysmenorrhea and polymenorrhea which lasted for about one year before admission. Previous ultrasound studies revealed the presence of two bright hyperechogenic bands with posterior shadowing. RESULTS: In both cases diagnostic-operative hysteroscopies were performed, displaying osseous fragments which were removed with resectoscopy, mainly mechanically. CONCLUSION: Hysteroscopic resection should be the elective treatment for endometrial ossification because it allows complete removal of osseous fragments and reduces the chance of residual synechia. The mean objective of hysteroscopy in endometrial ossification is the restitution of conceivement capability.

Abdominal cystic lymphangioma in a woman at 14 weeks' gestation: case report.

Lymphangiomas are uncommon benign tumors that most commonly present early in life, and are even more exceptional in adults. We present a rare case of a 14-week pregnant woman who had a large septated cystic lesion adherent to the ileum. Despite analysis by ultrasound, the correct diagnosis was established only via laparotomy and she had surgical resection of an abdominal lymphangioma.

High resolution real time ultrasonography in antenatal diagnosis of skeletal anomalies.

Two protocols were used for the ultrasonographic antenatal diagnosis of skeletal anomalies. The first was less selective and was used in pregnancies with a low risk of skeletal malformations. The second was applied to higher risk pregnancies. Both involved several ultrasound examinations, according to the patient's past medical history. In the period 1988 to 1993, 740 pregnant women in whom fetal malformations were suspected underwent serial ultrasound scanning. In 56 (7.5%), a skeletal anomaly was identified. The use of two protocols offers wide applicability and acceptable reliability in screening congenital skeletal problems in the fetus.

Prenatal evaluation of congenital heart disease in high-risk pregnancies.

The authors report their experience of echocardiography performed on a group of 736 pregnancies with specific risk-factors for congenital heart disease (CHD). The aim of the study was to evaluate the influence of specific risk-factors (established through the genetic counselling) in detecting fetal cardiac anomalies and diagnostic accuracy of extended fetal echocardiographic examination in high-risk pregnancies. Twenty-seven heart defects were observed (3.6%), of these 24 were detected at ultrasound. Specificity and sensitivity were 99% and 90% respectively. These results suggest the importance of an early detection of pregnancies at increased risk for CHD and confirm the good diagnostic accuracy of a multiple cardiac examination.

Regression formula for estimation of fetal weight with use of abdominal circumference and femur length: a prospective study.

Ultrasonographic fetal measurements from 293 singleton pregnancies were obtained within 7 days of delivery. Biparietal diameter, abdominal circumference, femur length, and actual birth weight data of the first 93 fetuses in the study were used as variables to determine the best mathematical model for relating estimated fetal weight to biparietal diameter, abdominal circumference, and femur length. With the aid of a computer, three regression equations were derived. The best model was Log10 (weight) = 0.77125 + 0.13244 (AC) - 0.12996 (FL) - 1.73588 (AC x AC)/1000 + 3.09212 (FL x AC)/1000 + 2.18984 (FL/AC); (R2 = 0.987). The accuracy of this formula was then compared prospectively, first with the formulas published by Shepard and coworkers, Rose and McCallum, and Hadlock and colleagues in the entire sample of 200 patients, second in 46 large, 101 appropriate, and 53 small for gestational age fetuses, and then in 44 fetuses of pregnancy complicated by diabetes. The difference between actual and estimated birth weights generated by the study formula had no systematic error (Student's t-test, P > 0.05) in cumulative data, and in small or appropriate and large for gestational age fetuses. As this derived formula is very cumbersome to manipulate, tables have been prepared with computer assistance to read the estimated fetal weight directly.

Chorionic DNA analysis for the prenatal diagnosis of familial hypercholesterolaemia.

Prenatal diagnosis for familial hypercholesterolaemia (FH) was performed by using restriction fragment length polymorphisms (RFLPs) of the LDL receptor gene on chorionic villi DNA taken during the 10th week of pregnancy. Both parents were FH heterozygotes and had previously had a healthy son and an FH homozygous son. Two RFLPs were informative in this family and revealed that the fetus was unaffected by FH. At birth the child was found to have an LDL cholesterol level of 30 mg/dl and a normal LDL receptor activity in cultured umbilical cord fibroblasts. RFLP analysis on chorionic villi DNA is highly recommended for all heterozygous FH couples in whom the LDL receptor gene mutation/s is/are still to be characterized.

[Echographic prenatal diagnosis of cleft lip and palate: orthodontic implications]. / Diagnosi prenatale ecografica di labiopalatoschisi: implicazioni ortodontiche.

The study of two cases of ultrasound prenatal diagnosis of cleft lip and palate and cleft lip, led the Authors to suggest the usefulness of first istance precocius correttive surgery in the immediate postnatal period. This correttive surgery not only allows the infant to be fed by natural vias, but it also facilitates the coordinated programming of successive final correttive surgeries by the plastic, the maxillofacial surgeons and the orthodontist.

Prenatal diagnosis of adult polycystic kidney disease with DNA markers on chromosome 16 and the genetic heterogeneity problem.

A prenatal diagnosis of adult polycystic kidney disease by DNA testing is reported. Evidence showing a linkage between the disease and the 3'HVR and 24.1 restriction fragment length polymorphisms (RFLPs) on chromosome 16 was obtained in the proband's family by linkage analysis of data and homogeneity testing with Italian families of the linked type. Fetal genotype prediction based on both flanking markers was confirmed by histological and ultrastructural findings in fetal kidneys.

Meckel-Gruber syndrome: ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case.

A case of early diagnosis at 13 weeks' gestational age of Meckel-Gruber syndrome by ultrasound is reported in a patient with a 25 per cent recurrence risk. The usefulness of genetic counselling and aimed echographic examination is discussed.

Ultrasound diagnosis of fetal annular pancreas.

A case of fetal "duodenal" obstruction was brought to our attention at 37 weeks gestation. The patient was referred to our Prenatal Diagnosis Center with an ultrasound finding of "double bubble" in the abdominal area of the fetus. We submitted the patient to an aimed ultrasound examination in order to establish the etiopathogenetic mechanism and to perfect the diagnosis. The ultrasound scans of the epigastric region strongly suggested the presence of annular pancreas. The diagnosis of duodenal stenosis due to annular pancreas was confirmed at birth and the infant underwent corrective surgery: duodeno-jejunostomy was successfully performed. We would like, in this context, to stress again the powerful diagnostic value of ultrasound investigation, when dealing with complex fetal malformations. The present report shows that high resolution echographic equipment and the ever-increasing qualification of medical staff make it possible to envisage the presence of annular pancreas already in prenatal life.