The influence of obesity on ICSI outcomes in women with polycystic ovary syndrome.

The objective of the study was to compare intracytoplasmic sperm injection (ICSI) outcome and gonadotropin doses between obese women with PCOS and non-obese patients with PCOS. This follow-up study represents ICSI outcomes in obese women with PCOS (BMI ≥ 30 kg/m(2)) compared with non-obese women with PCOS (BMI < 30 kg/m(2)). Obese (n = 18) and non-obese (n = 26) women with PCOS underwent long protocol pituitary suppression, ovarian stimulation and ICSI with fresh embryo transfer. Obese patients with PCOS required higher doses of gonadotropin (2994 IU vs 1719 IU; p < 0.001). Miscarriage rate was significantly higher in obese women compared with the non-obese women with PCOS (60% vs 6.7%, p = 0.002). Our results are valuable for counselling couples before initiation of assisted reproduction techniques (ART).

Prenatal diagnosis and postnatal outcome of pelvic kidneys.

OBJECTIVE: To assess the prevalence of pelvic kidneys during prenatal sonographic examinations in the second and third trimesters and to examine postnatal outcome. METHODS: Prenatal sonographic findings and postnatal follow-up data of fetuses with prenatal diagnosis of pelvic kidneys were analyzed. Routine (n = 10 079) and indicated (n = 17 732) second and third trimester scans were performed in 27 811 fetuses. A pelvic kidney was defined as one located within the fetal bony pelvis and in close approximation to the bladder. Postnatal evaluation consisted of renal ultrasound and/or dimercapto-succinic acid scan. RESULTS: A total of 36 newborns with postnatally confirmed pelvic kidneys were included in this analysis. Median gestational age at diagnosis was 25 weeks; half (18/36) were recognized after 24 weeks. The prevalence of pelvic kidneys in this cohort was 0.14%. Postnatally impaired renal function was present in 33% of the pelvic kidneys of children, but overall renal function remained normal. No serious complications occurred in the 31 fetuses with long-term follow-up, except in 1 case, which required nephrectomy due to multicystic dysplasia of the pelvic kidney. CONCLUSION: Pelvic kidneys are common and can be easily detected prenatally. Prognosis is favorable in the vast majority of the cases.

Can the classical euchromatic variants of 9q12/qh+ cause recurrent abortions?

Various heteromorphisms of the 9q heterochromatic area have been reported, and the 9q12/qh variant has been postulated to be more prevalent than initially perceived. Of note is that all probands are clinically normal. This paper documents two cases with a G-band within the 9q12h region and recurrent miscarriages. Patient 1 is a 22-year-old woman with a history of 2 miscarriages. Patient 2 is a 19-year-old woman with a history of 3 miscarriages. Chromosome analysis of the patients showed 46,XX,9q12h+. Thus, the existence of a G+ band in 9qh may not be a normal variant in humans. We suggest IVF and preimplantation genetic diagnosis in such patients.

Elevated second trimester serum homocysteine levels in women with gestational diabetes mellitus.

OBJECTIVE: Our aim was to investigate the association between total serum homocysteine, vitamin B12 and folate levels in pregnant women with gestational diabetes mellitus (GDM), glucose intolerance and compare them with those of glucose tolerant pregnant women. MATERIALS AND METHODS: Serum homocysteine, vitamin B12 and serum folate levels were prospectively measured in a total of 223 pregnant women who were grouped according to their status of glucose tolerance as gestational diabetes (abnormal 1-h and 3-h glucose tolerance test; n = 30), glucose intolerant (abnormal 1-h, but normal 3-h glucose tolerance test; n = 46) or normal controls (normal 1-h glucose test; n = 147). RESULTS: Mean serum homocysteine concentration of women in gestational diabetes, glucose intolerants and normal controls at 24-28 weeks of gestation was 9.0 +/- 3.1, 8.1 +/- 2.5 and 7.4 +/- 1.6 micromol/l, respectively. The only statistically difference in homocysteine levels was observed between women with gestational diabetes and normal controls (P < 0.01). However, no difference was observed for vitamin B12 and folate levels. CONCLUSION: Second trimester serum homocysteine concentrations are higher among women with GDM, as compared to normal controls.

[Prenatal diagnosis of right atrial isomerism (asplenia-syndrome): case report]. / Pränatale Diagnose der rechtsatrialen Isomerie (Apslenie-Syndrom): ein Fallbericht.

Right atrial isomerism (earlier known as asplenia) is a group of malformations including anomalies of the heart and the visceral organs. Complex defects of the heart are normally found, but these are non-specific. The suspected diagnosis can be confirmed most easily by focusing on a specific and segmental examination of the heart. We report on a fetus referred at 22 weeks in whom AV-septal defect was detected. Heart and stomach were on the left side, but the segmental approach allowed the detection of juxtaposed descending aorta and inferior vena cava as typical signs of right isomerism. The suspected malformation could be verified by the additional detection of infra-diaphragmatic total anomalous pulmonary venous drainage by using colour Doppler. Howell-Jolly bodies from fetal blood supported the diagnosis of asplenia. Autopsy after termination of pregnancy demonstrated the typical signs of right isomerism. The paper reviews the typical prenatal findings which lead to the detection of right isomerism in the fetus. Segmental approach should be performed in each fetus with an anomaly of the heart especially in the presence of complex defects.

Fetal cerebellar hemorrhage in a severely growth-restricted fetus: natural history and differential diagnosis from Dandy-Walker malformation.

This is a report of an intracerebellar hemorrhage in a severely growth-restricted fetus with pathological Doppler findings of the fetal and uteroplacental circulations. The diagnosis was made sonographically at 22 weeks of gestation and the natural course of the hemorrhage was followed. Interestingly, the final sonographic appearance of the posterior fossa was quite similar to that of the classic form of Dandy-Walker malformation: absence of the vermis and an enlarged fourth ventricle. However, careful sonographic examination showed that the enlargement of the fourth ventricle was actually caused by a porencephalic cystic lesion of the left cerebellar lobe. Pathological examination revealed complete absence of the vermis and cerebellar hypoplasia.

Bedside estimation of Down syndrome risk during first-trimester ultrasound screening.

OBJECTIVE: To construct tables for 'bedside' estimation of Down syndrome risk based on maternal age and nuchal translucency measurements. METHODS: Likelihood ratios were calculated using the log multiple of median Gaussian model. The parameters for the model (mean and standard deviation) were derived from 5560 normal and 51 Down syndrome-affected pregnancies scanned during the first trimester in three different centers. Equations for calculating maternal background risk and median values were obtained from previous reports. The results were compared to two modalities using the log Gaussian model and software that uses the delta-value model. RESULTS: The distribution fitted the data well, and the parameters obtained in the study group for the log multiple of median model were a mean of 0 and a standard deviation of 0.12356 among normal pregnancies and a mean of 0.305312 and a standard deviation of 0.240337 among Down syndrome-affected ones. The likelihood ratios obtained for the various combinations of fetal crown-rump lengths and nuchal translucency measurements were comparable to other modalities reported earlier. CONCLUSIONS: The results of the current study provide useful tables for simple and accurate 'bedside' estimation of Down syndrome risk without the need for computerized software or complicated calculations.

Prenatal diagnosis of an infratentorial subdural hemorrhage: case report.

We report a case of a prenatally diagnosed infratentorial subdural hemorrhage. The hematoma located in the posterior cerebral fossa was detected by conventional ultrasound at 24 weeks of gestation. Intrauterine magnetic resonance imaging confirmed the diagnosis. Autopsy of the fetus revealed a well-circumscribed subdural hematoma. The prenatal findings of intracranial bleeding located in the posterior fossa and the prognosis of such cases are discussed.

[Screening for aneuploidy by first trimester nuchal translucency measurement: results from a prospective trial including 1980 cases in a single center in Switzerland]. / Nackentransparenzscreening im 1. Trimenon: Ergebnisse einer prospektiven Studie bei 1980 Feten aus einem Zentrum in der Schweiz.

AIM: The purpose of this study was to evaluate the efficiency of first trimester screening for chromosomal abnormalities using the sonographically determined thickness of nuchal translucency (NT) combined with maternal age. PATIENTS AND METHODS: Risk screening was offered to all patients with a fetal crown rump length (CRL) between 45 and 84 mm after extensive counselling. For the risk assessment the software provided by the Fetal Medicine Foundation was used. In accordance with the recommendation of the Swiss Working Group on First Trimester Screening a cut-off risk of 1 : 400 was chosen. RESULTS: A total of 1980 consecutive pregnancies participating in the risk screening programme with due dates prior to May 1, 2001 were included. Mean maternal age was 30.1 yrs and 522 (26.4 %) patients were 35 yrs or older. A positive risk screening result was obtained in a total of 219 (11.1 %) pregnancies including 33 of the 37 (1.9 %) cases with unbalanced chromosomal abnormalities. CONCLUSIONS: The detection rate for unbalanced chromosome abnormalities in general (89.2 %) as well as the one for trisomy 21 (93.3 %) in particular are very high with a moderate false-positive rate (9.6 %) in this series. As a comparison in the series presented here, traditional "maternal age screening" (cut-off age 35 yrs) would have yielded detection rates of 64.9 % for all unbalanced chromosome abnormalities and 73.3 % for trisomy 21 at a false-positive rate of 25.0 %. Reducing the false-positive rate by raising the cut-off age to 38 yrs would yield detection rates of 40.5 % for all unbalanced chromosome abnormalities and 46.7 % for trisomy 21 at a false-positive rate of 8.9 %. The number of invasive procedures performed to detect one unbalanced chromosome count may be calculated as 21.75 using the cut-off age of 35 yrs as compared to 6.4 using NT measurement and maternal age. The outcome of this ongoing study is in good accordance with the earlier observation that the main benefit of the addition of first trimester NT measurements to the risk screening protocol is a very high detection rate at a moderate false-positive rate.

Myomectomy during the first trimester associated with fetal limb anomalies and hydrocephalus in a twin pregnancy.

OBJECTIVES: To present the complications of a twin pregnancy after first trimester myomectomy and to discuss the possible etiologic relationship. CASE REPORT: A 44-year-old primigravida with a dichorionic-diamniotic twin pregnancy underwent myomectomy in another hospital at 12 weeks' gestational age. At 28 weeks the patient was referred to our unit because of ventriculomegaly and limb anomalies in the second twin. The patient underwent a Caesarean section at 37 weeks of gestation delivering twin A, a healthy female weighing 3235 g and twin B, a female weighing 2810 g with hydrocephalus and limb anomalies (clubfeet and hypoplasia of the nails and terminal phalanges). The placenta from twin A was normal, but in the placenta of twin B haemorrhage, thrombosis and infarction were noted. CONCLUSIONS: Despite several reports of myomectomy in pregnancy without any problems for mother and fetus, the authors believe that myomectomy - especially in the first trimester - may be associated with the type of problems observed in the present case. The pathophysiological relationship between placental trauma and haemodynamic alterations as a possible cause of the malformations in twin B is discussed.

Large placental chorioangioma as a cause of sudden intrauterine fetal death. A case report.

A giant placental chorioangioma was diagnosed in a fetus at 22 weeks of gestation by prenatal ultrasound screening and color Doppler imaging. Although no signs of fetal hydrops and cardiac decompensation were observed, the situation of the fetus deteriorated rapidly and in utero fetal death occurred at 26 weeks, attributed to bleeding from ruptured sinusoids within the tumor. Prenatal diagnosis of chorioangioma and treatment modalities are discussed.

Metformin improves ovulation and pregnancy rates in patients with polycystic ovary syndrome.

We evaluated the fertility promoting effect of metformin in infertile patients with polycystic ovary syndrome. Twenty-nine infertile patients with polycystic ovary syndrome (PCOS) are included in our prospectively designed study and 15 normal menstruating women served as controls for reproductive hormones and ovarian volumes. All PCOS patients received a total of 78 cycles of clomiphene citrate (CC) in the beginning, then patients who could not get pregnant were switched to metformin plus clomiphene citrate. PCOS patients served as their own controls for the ovulation and pregnancy rates. At the end of the CC cycles 4.2% of patients got pregnant and 65.2% of the remaining group got pregnant with metformin plus CC cycles (p=0.0001). We have not observed any serious side effects of metformin. The high pregnancy rate of our study population is consistent with the hypothesis that insulin resistance plays an important role in the pathogenesis of anovulation in patients with PCOS.

[Ultrasound indications of fetal chromosome abnormalities in the 2nd trimester]. / Sonographische Hinweiszeichen auf fetale Chromosomenstörungen im zweiten Trimenon.

The most common fetal chromosomal disorders have structural abnormalities, which can be detected during second trimester ultrasound examination. Major malformations, also known as hardmarkers, when single or in combination, should raise the suspicion for a specific syndrome. But it is known, that even more subtile findings can increase the background risk based on the maternal age, especially for Down syndrome. A combination of these so called "soft-markers" can be used for second trimester screening in a high and low risk population. Here were report on the sonographic features of the common chromosomal anomalies and their significance in prenatal diagnosis.

Biochemical and body weight changes with metformin in polycystic ovary syndrome.

OBJECTIVE: To evaluate the long-term effects of metformin on biochemical variables and body weight in polycystic ovary syndrome (PCOS). METHOD: Fifteen obese PCOS patients that attended the university clinic were included to this prospective study. These patients used 1,500 mg of metformin daily for 12 months. RESULT: We found a statistically different decrease in mean body mass index (t:4,369), (p:0.0002) at the end of the 12 months. In contrast to that there were no statistical differences in fasting serum insulin and testosterone levels. Metformin improved menstrual patterns (60% of cases) in obese PCOS patients. CONCLUSION: Hyperinsulinemia and androgen excess in obese non-diabetic women with PCOS are not improved by the administration of metformin. Metformin treatment may have improved menstrual patterns by a mechanism independent of and unrelated to insulin sensitivity or circulating insulin concentrations.