Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.

BACKGROUND AND AIM: Chromosomal analysis is a laboratory technique used to examine the chromosomes of an individual, offering insights into chromosome numbers, structures, and arrangements to diagnose and comprehend genetic diseases. This retrospective study provides a comprehensive understanding of the distribution by indications in a large cohort of 14,242 patients and the frequency of chromosomal abnormalities in different clinical populations. METHOD: The study examined various indications for karyotype evaluation, with recurrent pregnancy loss being the most common indication, followed by intellectual disability, dysmorphic features, congenital anomalies, and developmental delay. RESULTS: The overall chromosomal abnormality rate was found to be 5.4%, with numerical abnormalities accounting for the majority of cases (61.7%). Trisomies, particularly trisomy 21, were the most frequent numerical abnormalities. In terms of structural abnormalities, inversions and translocations were the most commonly identified. The rates of chromosomal anomalies varied in specific indications such as amenorrhea, disorders of sex development, and Turner syndrome. The study also highlighted significant differences between males and females in the presence of chromosomal abnormalities across certain indications. Males exhibited a higher incidence of chromosomal abnormalities in cases of Down syndrome and infertility, whereas females showed higher abnormalities in terms of recurrent pregnancy loss. CONCLUSION: While this study provides valuable insights into the frequency and distribution of chromosomal abnormalities, it has limitations, including its retrospective design and reliance on data from a single medical genetics department. Nevertheless, the findings emphasize the importance of karyotype analysis in diagnosing chromosomal disorders and providing appropriate management, while also pointing to potential gender-related variations in chromosomal abnormalities that warrant further investigation.

The Effects of Actively Warming the Patient on Maternal and Infant Well-Being in a Cesarean Section Operation.

PURPOSE: Intraoperative warming is recommended for surgical patients under anesthesia, but there are insufficient studies on this topic in cesarean delivery patients under spinal anesthesia. The purpose of this study was to determine the effects of active warming on the mother and newborn during elective cesarean section. DESIGN: This research was carried out in an experimental design with a pretest-posttest randomized intervention and control group. METHODS: The research was conducted with 34 women (17 intervention and 17 control), who gave birth by cesarean section. The study examined outcomes for both mother and newborn. Women in the intervention group were heated by both active (warmed with carbon fiber resistive underbody heaters during surgery) and passive heating (preoperative- socks, nonelectrified wool blankets, etc). Only passive heating methods were applied to the women in the control group (preoperative). Neonatal Activity - Pulse - Grimace - Appearence - Respiration (APGAR) score, body temperature, cortisol, and blood glucose levels in the intervention and control groups were evaluated, while body temperature and shivering conditions were evaluated in the mother. FINDINGS: Body temperature and first minute APGAR score of the infants in the intervention and control groups after cesarean section were 36.88 ± 0.27, 36.52 ± 0.32 (P = .002); 7.00 ± 0.36, 7.47 ± 0.64 (P = .009), respectively. Cortisol and blood glucose levels in the intervention and control groups were 3.55 ± 1.09, 4.51 ± 0.70 (P = .010), 77.94 ± 7.07, 72.47 ± 10.24 (P > .05), respectively. The body temperatures of the women in the intervention and control groups at 15, 30, and 45 minutes were significantly different (P < .05), while they were similar (P > .05) at 60 minutes. Oxygen saturation measured at 30 minutes during the operation was 97.10 ± 1.41 in the intervention group and 95.20 ± 1.78 in the control group (P < .05). CONCLUSIONS: Active warming before, during, and after cesarean section affected body temperature, pulse, respiration, blood pressure, and oxygen saturation of women, and while it increased the body temperature and APGAR score of newborns, it decreased cortisol level.

An analysis of 109 fetuses with prenatal diagnosis of complete agenesis of corpus callosum.

BACKGROUND: Agenesis of the corpus callosum (ACC) is the most frequent commissural malformation of the brain. It continues to be an important cause of the pregnancy termination associated with the central nervous system (CNS). OBJECTIVE: The aim of the study is to provide a comprehensive assessment of fetuses with diagnosis of complete ACC, as well as postnatal neurodevelopmental outcomes. METHODS: The data of 75,843 fetuses were screened for evaluation of complete ACC between 2003 and 2017, and a total of 109 cases with complete ACC were included in the study. ACC was considered isolated when no additional anomalies were detected, and ACC was considered complex when additional anomalies were present. RESULTS: The prevalence of complete ACC was 9.4 per 10,000 live births, and the incidence was ranged from 1.8 to 16.6 per 10,000 person-years. Patients with isolated ACC had a significantly higher survival when compared with patients with complex ACC (97.4%, n = 38/39 vs. 68.8%, n = 22/32, P = 0.001).The most important cause of death were congenital heart disease and/or respiratory failure during neonatal period. Developmental and intellectual disabilities were significantly higher in the complex ACC cases (P < 0.001). Postnatal neurodevelopmental outcomes were completely normal in 79.4% of cases with isolated ACC. CONCLUSIONS: Isolated complete ACC is usually associated with a favorable outcome. The most important prognostic factors are the presence or absence of associated congenital anomalies.

Conservative management of interstitial pregnancies: experience of a single centre.

The aim of this study was to compare the effect of local intracavitary methotrexate (MTX) injection and laparoscopic (L/S) cornuostomy in the treatment of interstitial pregnancy (IP) in terms of clinical and reproductive outcome. The data of patients with IP (n:10) who were treated between September 2011 and December 2016 with either an intra-amniotic MTX injection (n:7) or L/S cornuostomy (n:3) were retrospectively evaluated. All cases (7/7) in the local injection group and two (2/3) in the L/S group were successfully treated with the initial treatment. One case (1/3, 33%) in L/S group needed systemic MTX due to an elevated ß-hCG. No serious complication or secondary surgical intervention was observed in the study group. Five (71.4%) women in MTX group and two (66%) women in the L/S group had pregnancy after index case (p > .05). Post-treatment (hysterosalpingography) HSG results revealed that tubal patency was significantly higher in the MTX group (7/7 (100%) vs. 0/3 (0%) p < .05). Conservative treatment of IP with both methods was generally successful with regard to maternal morbidity and reproductive function. However, local MTX was superior for tubal patency compared to L/S cornuostomy. Since this is a retrospective study including a small study population, our results should be confirmed with larger prospective studies. Impact Statement What is already known on this subject? Earlier diagnosis of an interstitial pregnancy (IP) enables clinicians to pursue more conservative treatment modalities that can prevent morbidity (severe bleeding, rupture and massive transfusion, etc.) and loss of fertility. MTX treatment and conservative laparoscopic surgical procedures are gaining importance. High serum ß-hCG levels and positive foetal cardiac activity are known as unfavourable pre-treatment prognostic predictors for systemic MTX treatment in patients with an ectopic pregnancy. Local MTX treatment is widely used for caeserean scar pregnancies or cervical pregnancies. L/S cornuostomy is an attractive alternative to L/S cornual resection, because it preserves the normal uterine myometrium. What the results of this study add? In the present study, we showed that the local MTX and laparoscopic cornuostomy were successful methods in IP patients and did not impair the fertility potential of the patients. We also demonstrated that local MTX application is superior to L/S cornuostomy in terms of the post-treatment tubal patency and this fact should be kept in mind when tailoring the treatment in patients desiring pregnancy. What the implications are of these findings for clinical practice and/or further research? The value of local MTX injection in cases with IP and high ß-hCG levels should be further clarified.

Prenatal diagnosis of upper extremity malformations with ultrasonography: Diagnostic features and perinatal outcome.

OBJECTIVE: The aim of this study was to assess the sonographic (US) characteristics, associated malformations, chromosomal status, and perinatal outcomes of fetuses with an upper extremity malformation (UEM) detected by US examination. METHODS: The data of all patients evaluated in the Department of Obstetrics and Gynecology, Prenatal Diagnosis Unit between 2010 and 2015 were searched for UEM. RESULTS: A total of 51 cases with UEM were detected. Eighteen cases (35.2%) had defects in the formation of body parts (absence of hand/forearm/digits); 25 cases (49%) had defects in differentiation (contractures, syndactyly), and 8 cases (15.6%) had duplication defects (polydactyly). The specificity of prenatal US for UEM was 96.2%. Ten cases (19.7%) had isolated UEM, and 41 cases (80.3%) had additional anomalies, most of which were cardiac, central nervous system, or facial malformations. Although chromosomal structure in isolated cases was normal in 9 of 10 cases (90%), 15 of 41 cases (36.5%) with multiple defects showed abnormal karyotypes. The chromosomal constituents of nine cases (17.6%) were not available. Although the postnatal outcome of isolated cases was favorable except for the presence of orthopedic problems, complex UEMs with or without abnormal karyotypes were always lethal (97.5%). CONCLUSIONS: UEMs associated with other malformations are usually a sign of underlying severe chromosomal abnormalities, and the prognosis is poor. In contrast, chromosomal structure in isolated cases is normal, and the perinatal and postnatal outcomes are good. In general, US is an effective tool in differentiating fetuses with isolated UEM from those with UEM associated with additional malformations. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:267-276, 2017.

Correlation between prenatal ultrasound and fetal autopsy findings on urinary system anomalies terminated in the second trimester.

OBJECTIVE: This prospective study was designed to compare ultrasound and autopsy findings on fetal urinary system malformations in second trimester terminations of pregnancy to evaluate the degree of agreement of such findings. METHODS: From January 2003 to October 2012, a total of 308 second trimester terminations of pregnancy were performed because of fetal malformation diagnosed through second trimester ultrasound examination at a tertiary referral center. RESULT: Among 308 second trimester fetuses with congenital anomalies, 62 (20.1%) had urinary anomalies. Ultrasound and fetal autopsy findings were in full agreement for urinary system malformations in 45 (72.6%) of 62 cases. In six (9.7%), autopsy confirmed the malformations detected by ultrasound but showed additional lesser urinary anomalies. In 10 (16.1%) cases, autopsy revealed major urinary anomalies not determined by ultrasound. In one case (1.6%), ultrasound reported bilateral renal agenesis; however, autopsy revealed a horseshoe kidney. The ultrasound screening sensitivity was 83.8%, and specificity was 99.5%. CONCLUSION: The results showed that prenatal ultrasound achieved a high accuracy in diagnosing fetal urinary malformations. However, fetal autopsy occasionally adds valuable information to prenatal ultrasound findings.

Prenatal diagnosis and postnatal outcome of fetal intracranial hemorrhage.

BACKGROUND: The aim of this study was to present our experience with six cases of fetal intracranial hemorrhage (ICH) in terms of prenatal diagnostic features, and postnatal outcome. METHODS: The database of prenatal diagnosis unit was searched for antenatally diagnosed ICH cases. Maternal characteristics, ultrasound (US), and magnetic resonance imaging (MRI) findings, clinical course, and postnatal outcome were noted. RESULTS: We evaluated six consecutive cases of fetal ICH. One case was terminated at 24 weeks, and remaining five cases were delivered between 34 and 38 weeks. Five cases (5/6) had intraventricular, and one (1/6) had intraparenchymal hemorrhage. Hemorrhages were right sided in five cases (5/6), left sided in one case (1/6). Dilated and echogenic ventricular wall were the common US findings. No predisposing factor was detected in four of the cases, and intrauterine growth restriction was an underlying factor in two fetuses. Intrauterine progression of the hydrocephaly, and parenchymal thinning was seen in four cases (4/6). In three of four cases (3/4) with progressive grade 3-4 hemorrhage and hydrocephaly, postnatal outcome were dismal, and one case had mild neurological impairment at three months. In one case which had non-progressive mild ventriculomegaly, the lesion regressed after 4 weeks, and had normal short-term outcome CONCLUSION: Fetal ICH can be accurately identified and categorized by antenatal sonography, and fetal MRI. Although intrauterine regression or normal short-term postnatal outcome is possible, the outcome is usually poor for fetuses with high grade and/or progressive lesions. Therefore, further studies assessing long-term postnatal outcome are needed.

Successful medical treatment of cesarean scar ectopic pregnancies with systemic multidose methotrexate: single-center experience.

AIM: The aim of this study was to investigate the efficacy, and the safety of systemic multidose methotrexate (MTX) for the treatment of cesarean scar pregnancy (CSP). MATERIAL AND METHODS: This retrospective cohort study was performed using records from the Department of Obstetrics and Gynecology, Erciyes University, between 2010 and 2012. The data were analyzed with respect to obstetric characteristic, course of treatment, clinical, and reproductive outcomes. RESULTS: A total of 13 patients were evaluated. The median gestational age at diagnosis was 5 weeks 5 days (range: 4-9 weeks). The mean beta human chorionic gonadotrophin level was 11,240.31 ± 9812.68 IU/L (range: 2565-36,111 IU/L). All patients were successfully treated with systemic multidose MTX therapy. The average MTX dose was 5.7 (range: 2-9). The interval between the first MTX injection and the normalization of beta human chorionic gonadotrophin was 8 ± 2.27 weeks (range: 4-12 weeks). One patient showed mild leucopenia that reversed after the treatment. Three patients had successful uncomplicated intrauterine pregnancy after the treatment, which resulted in term infants. CONCLUSION: Systemic multidose MTX therapy is an effective and safe treatment method for CSP. However, further studies are needed to compare the safety, effectiveness and reproductive outcome of different treatment modalities in CSP.

Sonographic findings and perinatal outcome of multiple pregnancies associating a complete hydatiform mole and a live fetus: a case series.

BACKGROUND: The aim of this case series was to present the ultrasonographic findings, clinical features, management, and outcome of multiple pregnancies with complete hydatidiform mole and coexisting fetus (CHMCF). METHODS: Sonographic features and obstetrical and perinatal outcomes of seven cases with CHMCF were analyzed retrospectively. RESULTS: A total of seven cases was included in the analysis. Six cases were twins and one case was quadruplet. The mean ± SD maternal age was 25.3 ± 1.9 years (median: 25; range: 23-29). The mean gestational age at diagnosis was 16.1 ± 4.6 weeks (median: 17; range: 11-23). Two pregnancies were achieved by ovulation induction. Two couples opted for pregnancy termination. Four pregnancies resulted in fetal loss between the 11th and 23th week of gestation. One pregnancy ended with the preterm delivery of a live-born neonate at 34 weeks due to pre-eclampsia. One patient developed persistent trophoblastic disease, which was treated by hysterectomy. The mean ± SD time for ß-human chorionic gonadotropin clearance was 3.7 ± 0.5 weeks (median: 4; range: 3-4) in the six patients without persistent trophoblastic disease. CONCLUSIONS: Spontaneous fetal loss is the most likely outcome for CHMCF. However, on the basis of our experience, we recommend carefully monitored continuation of pregnancy as long as maternal complications are not present or are controllable.

Comparison of antiproliferative effects of metformine and progesterone on estrogen-induced endometrial hyperplasia in rats.

Metformin has been shown to inhibit the growth of endometriotic implants, and reverse endometrial hyperplasia when combined with oral contraceptive in a case report. The aim of this study is to compare the antiproliferative effects of medroxyprogesterone acetate (MPA), and metformin in oopherectomized rat endometrium. Forty oopherectomized Wistar-Albino rats were used, and assigned to receive saline, 17 ß Estradiol hemihydrate (4 mg/kg), 17 ß Estradiol hemihydrate (4 mg/kg) and metformin (50 mg/kg), 17 ß Estradiol hemihydrate (4 mg/kg) and MPA (1 mg/day) for 14 days. Histological markers of uterotrophy, including endometrial height, luminal ephitelial cell height and density of endometrial glands on hysterectomy speciments were quantified for each specimen. Rats treated with estradiol had significantly increased in endometrial height, endomerial luminal epithelial height and endometrial gland densitiy than the other groups. Metformin and MPA acetate significantly reduced all parameters indicating endometrial hyperplasia, and uterotrophy with respect to the control group. Antiproliferative effects of metformin, and MPA was found to be comparable for all three parameters. In conclusion, metformin attenuates estrogen-induced endometrial hyperplasia in ooferectomized rats to the same degree as progesterone.

Postnatal outcome of isolated, nonprogressive, mild borderline fetal ventriculomegaly.

BACKGROUND: This study aimed to evaluate postnatal outcome of fetuses affected by nonprogressive, isolated, mild (≥10 and ≤12 mm) borderline ventriculomegaly (BVM). METHODS: We studied 25 consecutive fetuses with BMV and evaluated patients' characteristic, ultrasonographic findings, and the neurodevelopmental outcome at age ≥24 months. RESULTS: The mean gestational age at diagnosis was 23.84 ± 5.02 weeks (min-max; 17-34 weeks). In 16 cases, BVM was bilateral (16/25, 64 %), 4 left sided (4/25, 16 %), and 5 right sided (5/25, 20 %). Fourteen cases were males (14/25, 56 %), and 11 cases were females (11/25, 44 %). In two cases, ventriculomegaly was regressed 4 weeks after the initial diagnosis (2/25, 8 %), and in the remaining cases, ventriculomegaly persisted between initial measurement and 12 mm. The mean age of the infant at the time of the neurodevelopmental evaluation was 45.9 months (24-77 months). The neurodevelopmental outcome at the mean age of 45.9 months was completely normal in 16 infants (16/25, 64 %). The remaining nine infants (9/25, 36 %) had mild degree of neuromotor developmental delay. CONCLUSION: Prenatal counseling for isolated, nonprogressive, mild BVM should be mainly reassurance since it is not associated with severe neurodevelopmental delay. However, parents should be educated about the developmental milestone of children to observe and detect mild neurodevelopmental delay which can be associated with mild BVM.

A case of dichorionic twin pregnancy concordant for bilateral cleft lip and palate and discordant for spina bifida; schisis association.

BACKGROUND: The schisis theory suggests that neural tube defect (NTD), cleft lip and palate (CL/P), omphalocele and diaphragmatic hernia are associated to each other more frequently than at the expected random combination rates in a given fetus. However, it is unusual to see schisis-associated defects concordantly in dichorionic twin pregnancy with other schisis-associated and non-associated defects. In addition, the association of lower limb oligodactly with oral cleft and spina bifida has not been reported before. CASE: A 24-year-old woman with twin gestation at 21 weeks was referred to our unit. At ultrasound examination, bilateral CL/P and single umbilical artery in male fetus, and bilateral CL/P and open lumbar spina bifida in female fetus were revealed. At autopsy, oligodactyly of both lower limbs was demonstrated in the female fetus. The parents had no family history of NTD and CL/P. There was no consanguinity, nor was the mother exposed to teratogens.

Oral tadalafil reduces intra-abdominal adhesion reformation in rats.

BACKGROUND: Currently, there is no ideal agent to prevent adhesion formation. We have shown that sildenafil, a phosphodiesterase-5 (PDE-5) inhibitor, reduces post-operative adhesion formation by vasodilatation and increases fibrinolytic activity. Here, we evaluated whether tadalafil, a long-acting PDE-5 inhibitor, decreases post-operative adhesion reformation in rats. MATERIALS AND METHODS: Standardized lesions were created in Wistar albino rats by cauterization of uterine horns and abrasion of adjacent peritonium. The extent and severity of adhesions were scored on the 14th post-operative day and adhesiolysis was performed at the second laparotomy. Animals were then assigned randomly into two groups. The study group (n = 11) received 10 mg/kg oral tadalafil by gavage 60 min before the second laparotomy and daily for 14 days afterwards. Controls (n = 11) received the same volume of tap water for 14 days by gavage. Animals were killed 15 days after adhesiolysis and adhesions were scored blind during the third laparotomy. RESULTS Basal adhesion scores at the time of the second laparotomy were comparable in the study and control groups. Scores for the extent of adhesion reformation in the study and control groups did not differ [median 1 (range 0-3) versus median 2 (range 1-3); P: 0.81] but tadalafil reduced the respective severity scores [median 0.5 (range 0-1) versus median 1 (range 0.5-1); P: 0.02] and total scores [median 2 (range 0-4) versus median 2.5 (range 1.5-4); P: 0.042]. CONCLUSIONS: Oral administration of tadalafil during the perioperative period reduces intra-abdominal adhesion reformation in rats.

Prenatal diagnosis of split cord malformation by ultrasound and fetal magnetic resonance imaging: case report and review of the literature.

INTRODUCTION: Split cord malformation (SCM) is rare congenital disorder of spine in which bony, fibrous, or cartilaginous septum subdivides partially or completely the vertebral canal. SCM can be associated with other spinal abnormalities such as spina bifida, Arnold-Chiari malformation, hemivertebra, butterfly vertebra, or kyphoscoliosis and also can be seen as part of Jarcho-Levin syndrome. Prenatal diagnosis of SCM is possible by ultrasonography (US). Fetal magnetic resonance imaging (MRI) and amniotic fluid acetylcholine esterase (AF-AChE) levels can be helpful to rule out additional anomalies. We present a case of fetal SCM diagnosed by US and fetal MRI. CASE: An 18-year-old woman with no obstetrics risk factor was referred for routine US screening. At sagittal section, fetal spine was seen to be disordered. A coronal view of the spinal canal showed evidence of widening at the lower thoracic and lumbar level. An echogenic mass was identified within the enlarged spinal canal at level of T6-L5. Fetal MRI and AF-AChE analysis confirmed diagnosis and ruled out other anomalies and spina bifida. Neurological examination of the baby at 16 months of age was normal.

The effects of metformin and letrozole on endometrium and ovary in a rat model.

OBJECTIVE: The effects of metformin and letrozole on endometrium and ovarian reserve were studied in a rat model. METHODS: Forty female Wistar albino mature rats at 8 weeks, weighing 180-260 g, were used for the study. These rats were randomly divided into four groups. Control group, eight rats, was given no medication by oral gavage. The rats in low-dose metformin group, 10 rats, were given 100 mg/kg/day of oral metformin. The rats in high-dose metformin group, 10 rats, were given 200 mg/kg/day of oral metformin. The rats in letrozole, 10 rats, were given 0.1 mg/kg/day of oral letrozole. RESULTS: There was statistically significant difference in the endometrial thickness between the treatment groups and control group. The primordial follicle count was comparable in all treatment groups compared with control. Finally, there was no significant difference in total follicle count between the treatment groups and control. CONCLUSIONS: This study showed that both metformin and letrozole had similar effects on endometrium and ovary in the rat model. Additionally, metformin had a little effect on endometrium than letrozole. Although metformin and letrozole might have tendency to enhance the total follicle count in the rat model, they had comparable effects on ovarian follicles and did not change the ovarian reserve compared with control.

First trimester diagnosis of sacrococcygeal teratoma using two- and three-dimensional ultrasound.

Sacrococcygeal teratomas are very rarely diagnosed in the first trimester. Here we report a case of a presacral mass suggestive of a sacrococcygeal teratoma that was detected during the first trimester nuchal translucency thickness measurement at 12+1 week of gestation. Although the diagnosis was possible with conventional two-dimensional sonography, three-dimensional sonography facilitated prenatal counseling by providing more recognizable images to the parents. Postmortem examination of the fetus confirmed the presence of a type 2 benign immature teratoma.

The effects of metformin and letrozole on endometriosis and comparison of the two treatment agents in a rat model.

BACKGROUND: Our aim was to investigate the effects of metformin and letrozole on experimentally induced endometriosis in a rat model. METHODS: Endometriotic implants were surgically formed, and 38 rats were randomly divided into four groups. Group 1 (control group, 8 rats) was given no medication. Group 2 (metformin group, 10 rats) was given 100 mg/kg/day of oral metformin. Group 3 (metformin group, 10 rats) was given 200 mg/kg/day of oral metformin. Group 4 (letrozole group, 10 rats) was given 0.1 mg/kg/day of oral letrozole. All rats continued to receive the treatment for 4 weeks and then were sacrificed to assess the size of implants and scores of adhesions. The histopathologic scores of implants in excised endometriotic foci were examined by a pathologist. RESULTS: The mean surface area of endometriotic implants was similar in all groups before the treatment. Although the area was not reduced in controls, it was found to be significantly reduced in all treatment groups (44.50 +/- 23.37, 5.90 +/- 2.37, 4.30 +/- 1.33, 6.90 +/- 3.72 mm(2), respectively; P < 0.05). The effect was comparable between the treatment groups. The histopathologic assessment revealed that the histopathologic score of implants was lowest after 100 mg/kg/day metformin. Additionally, metformin reduced the severity of adhesions. CONCLUSIONS: Metformin and letrozole caused a statistically significant regression of endometriotic implants. The effects of metformin on endometriotic tissue were at least comparable to letrozole.

Are heterochromatin polymorphisms associated with recurrent miscarriage?

AIM: Recurrent miscarriage is a multifactorial problem associated with genetic abnormalities reflected by inherited disorders. The aim of the present study was to investigate the contribution of chromosomal abnormalities and the frequency of a particular type of aberration in couples of Turkish origin with recurrent miscarriages compared with patients without miscarriages. METHODS: A total of 336 patients with recurrent miscarriages and 427 patients without miscarriages were analyzed. RESULTS: In the recurrent miscarriage group, a structural chromosomal abnormality was found in four patients (1%). Twelve patients had mosaic karyotype (3%) and the total rate of chromosomal abnormalities was 4% in this group. The karyotypes were composed of polymorphisms in 8% of patients with recurrent miscarriages compared with 4% in the control group (P < 0.05). CONCLUSION: The overall high incidence of chromosome polymorphisms in patients with recurrent miscarriages compared to the normal population needs to be confirmed with additional investigations including larger populations in order to delineate the role of 'harmless' chromosomal aberrations in the etiology of recurrent spontaneous abortions.

Prenatal sonographic findings in a fetus with splenogonadal fusion limb defect syndrome.

Splenogonadal fusion limb defect syndrome (SGFLD) is a very rare abnormality. We report on a case with prenatal sonographic findings of a fetus with postnatally diagnosed SGFLD syndrome. This is also the second case of prenatal ultrasonographic diagnosis of gastrointestinal malrotation associated with SGFLD. A 26-year-old primigravid woman was referred to our clinic because of nonvisualization of both fetal femoral bones at 20 weeks of gestation. A detailed sonographic examination showed complete bilateral absence of lower limbs, micrognathia, single umbilical artery and a right-sided stomach. Autopsy confirmed prenatal sonographic findings and additionally showed that the spleen was abnormally connected to the left gonad by a fibrous band. In conclusion, although all limbs and both sides were equally affected in most of the reported cases, SGFLD syndrome should be considered in cases with terminal limb defects of lower limbs.

Selective ovarian vein sampling can be crucial to localize a Leydig cell tumor: an unusual case in a postmenopausal woman.

Leydig cell tumors of the ovary are very rare, frequently associated with symptoms of virilization in postmenopausal patients. It is sometimes difficult to localize the tumor precisely even with modern imaging techniques. A 62-year-old patient presented with recent onset of rapidly progressive virilization including increased hirsutism, progressive balding, deepening voice and enlargement of the clitoris. Initial laboratory examination revealed a total serum testosterone level of 1330 ng/dL. Serum dehydroepiandrosterone sulfate, androstenedione and 17 hydroxyprogesterone levels were all within normal limits. Extensive pre-operative evaluations included transvaginal ultrasound, abdominal computed tomography and magnetic resonance imaging failed to localize the tumor. Therefore, selective ovarian venous hormonal sampling (SOVHS) was performed and they revealed that the total serum testosterone level was significantly higher in the left than in the right ovarian vein (7000 ng/dL vs. 225 ng/dL). A total abdominal hysterectomy and bilateral salpingo-oophorectomy was performed. Microscopic examination of the left ovary revealed a Leydig cell tumor. In conclusion, when the precise location of the tumor is not determined pre-operatively, SOVHS may be valuable to make accurate diagnosis.