Ibrahim Kalelioglu

Transient gestational diabetes insipidus diagnosed in successive pregnancies: review of pathophysiology, diagnosis, treatment, and management of delivery

Gestational diabetes insipidus (GDI) is a rare disorder characterised by polyuria, polydypsia, and excessive thirst usually manifesting in the third trimester of pregnancy. The etiology is thought to depend on excessive vasopressinase activity, a placental enzyme that degrades arginine-vasopressin (AVP), but not 1-deamino-8-d-arginine vasopressin (dDAVP), which is a synthetic form. This is a transient syndrome and may be associated with acute fatty liver of pregnancy and preeclampsia. The use of dDAVP in symptomatic cases has been proven as a safe method for both the mother and the fetus during the pregnancy. We report a case of recurrent gestational diabetes insipidus in successive pregnancies, which responded to dDAVP and subsided after delivery.

Prenatal diagnosis of diastematomyelia: presentation of eight cases and review of the literature

Diastematomyelia is a rare form of spinal dysraphism. We present eight cases of diastematomyelia diagnosed prenatally in our institution as well as a review of the literature in order to determine the prognosis of isolated cases of this very unusual condition.

Intracranial Ultrasound Abnormalities and Fetal Cytomegalovirus Infection: Report of 8 Cases and Review of the Literature

Objectives: The aim of this study was to evaluate fetal intracranial and other ultrasonographic findings in cytomegalovirus (CMV) infection. Methods: Data on amniotic fluid CMV-DNA-PCR-positive pregnancies detected in our institution between January 2006 and June 2009 were reviewed retrospectively. Fetal biometric measurements, fetal anatomy, amniotic fluid volume, placental thickness and texture were analyzed for abnormalities. Results: Eight fetuses were diagnosed with congenital CMV infection during the study interval. Their mean gestational age at diagnosis was 25.8 weeks (range: 23–29). All fetuses had intracranial abnormalities; increased periventricular echogenicity (n = 7), ventriculomegaly (n = 5), intracranial calcifications (n = 4), intraventricular adhesions (n = 4), thalamic hyperechogenicity (n = 3), mega cisterna magna (n = 3), lissencephaly (n = 2), vermian defect (n = 2) and cerebellar cyst (n = 1). All of them had accompanying extracranial findings, including hyperechogenic bowel (n = 6), cardiomegaly (n = 3), pericardial effusion (n = 2) and hepatosplenomegaly (n = 1). Intrauterine growth retardation was detected in 3 cases. Five pregnancies were terminated, and 1 intrauterine death occurred. The remaining 2 delivered vaginally at term. One of the live-born babies suffers from tetraparesis, mental retardation and autism, and the other has mild hemiplegia. Conclusions: The spectrum of sonographic findings may vary widely in patients with congenital CMV infection in the prenatal period. CMV should be kept in mind in differential diagnosis, particularly in fetuses with intracranial sonographic findings such as ventriculomegaly, calcifications, intraventricular adhesions and increased periventricular echogenicity.

Imaging features of postpartum uterine rupture: a case report

We present a case report on a postpartum uterine rupture with the history of a previous cesarean section. During the diagnosis of rupture, ultrasound, computerized tomography (CT) and magnetic resonance imaging of the uterus were obtained. Ultrasound examination did not result in substantial information. CT and magnetic resonance imaging established the correct diagnosis. The patient underwent exploratory laparotomy, and the diagnosis was confirmed. Diagnostic qualifications of these three instruments were compared.

Fetal Nasal Bone Assessment in First Trimester Down Syndrome Screening

Objective: To evaluate the contribution of nasal bone assessment in the first trimester Down syndrome screening. Methods: The fetuses which underwent first trimester screening with nuchal translucency (NT) measurement were evaluated for the absence or presence of nasal bone according to the instructions described by the Fetal Medicine Foundation, London. Results: Among the 1,807 fetuses included in the study, 9 had trisomy 21. The detection rate of Down syndrome with NT measurement was 77.8% (7/9) with a false-positive rate of 4.5%. Incorporation of biochemical tests (PAPP-A, and free β-hCG measurement) into the screening increased the detection rate to 88.9% (8/9) and decreased the false-positive rate to 3.6%. The prevalence of absent nasal bone was 7/1,798 (0.39%) in chromosomally normal fetuses, and 3/9 (33.3%) in Down syndrome fetuses. Sensitivity, specificity, positive predictive and negative predictive values of absence of nasal bone for trisomy 21 are 33.3% (CI: 0.12–0.64), 99.6% (CI: 0.99–0.99), 30% (95% CI: 0.11–0.53) and 99.7% (95% CI: 0.99–0.99), respectively. The positive likelihood ratio of absent nasal bone was 85.6 (95% CI: 26.2–279.5), and the negative likelihood was 0.67 (95% CI: 0.42–1.06). When nasal bone assessment was incorporated into the NT risk assessment or combined test, the detection rate of trisomy 21 was not changed, however, the false-positive rate decreased to 3.4 and 3%, respectively. Conclusion: The absence of fetal nasal bone has a high positive likelihood ratio for Down syndrome in the first trimester screening, and the presence of nasal bone may potentially lower the need for invasive testing.

Vascular Effects of Estrogen and Progestins and Risk of Coronary Artery Disease: Importance of Timing of Estrogen Treatment

The effects of estrogen and progestins on the vascular wall have drawn major medical attention, and significant controversy over various studies has been developed. Several experimental and observational studies have shown cardioprotective effects; however, prospective randomized trials showed an increase in cardiovascular events in postmenopausal women on estrogen/ medroxyprogesterone acetate treatment. The most significant parameter for cardiovascular benefit of estrogen seems to be the interval since the onset of menopause. In the early postmenopausal years, estrogen has beneficial effects on the vascular wall by inhibition of atherosclerosis progression, whereas in the late postmenopause, adverse effects like upregulation of the plaque inflammatory processes and plaque instability may develop. The effects of progestins on the cardiovascular system are not as clear and may differ according to the choice of progestins that is used. The aim of this review is to summarize the effects of estrogen and progestins on the vascular wall and their clinical implications.

Prenatal sonographic diagnosis of fetus in fetu.

Fetus in fetu is a rare form of monozygotic twinning where an immature twin develops parasitically in the other twin. This condition was first described by Johann Friedrich Meckel in 1800.1 It is a rare condition with less than 190 cases reported in the literature, which were mostly diagnosed after birth. Advances in sonography have made the diagnosis of this condition possible in the prenatal period. The prenatal diagnosis was first reported in 1983,2 and only a few cases of antenatal diagnosis of fetus in fetu have been published until now. Here we report a case of fetus in fetu diagnosed by prenatal sonography in the third trimester of pregnancy. A 36-year-old woman, gravida 4, para 3, was referred to our department at 36 weeks’ gestation with a fetal abdominal cystic mass. Amniocentesis had been performed at another center for fetal talipes equinovarus and an abdominal cystic mass at 22 weeks. Chromosome analysis results were normal. Sonography revealed a 36-week fetus with bilateral talipes equinovarus. In the retroperitoneal region of the fetus adjacent to the left kidney and vertebral column, a fluid-filled sac was observed. A solid mass measuring 50 × 35 × 20 mm was “floating” within this cystic structure, which was 50 × 46 × 59 mm in size (Figure 1 and Video 1). Within the mass, a rudimentary spine and extremities representing an anencephalic fetus in fetu were noted (Video 1). Color flow Doppler investigation revealed blood flow through a stalk from the cyst wall to the floating mass (Video 1). Findings were well matched with the diagnosis of fetus in fetu. In the host fetus, there was substantial coiling of the umbilical cord and dilatation of the umbilical vein, suggesting varicosis, at the level of insertion into the fetal abdomen (Figure 2 and Video 2). Three days after our examination, the fetus died in utero at 37 weeks. A dead male fetus weighing 2650 g was delivered vaginally. The postmortem examination findings were consistent with the prenatal sonographic findings. There was substantial thrombosis in the umbilical vein close to the insertion site of the cord to the fetus (Figure 3, A and B). Autopsy findings revealed a solid mass within a fluid-filled sac surrounded by a transparent membrane (Figure 3C). The solid mass was connected to the membrane by a tiny stalk containing vessels. Microscopic examination of the solid mass showed the general characteristics of welldifferentiated tissues of the fetus in fetu, including skin, neuroglial tissue, vertebra, bone, cartilage, and adrenal cortex (Figure 4). Prenatal sonographic findings of fetus in fetu are a fluid-filled sac with a solid portion floating within it. The most common location of a fetus in fetu is retroperitoneal, constituting 80% of cases, but other locations such as scrotal, nuchal, and intracranial have also been described.2–5 Almost all fetus in fetu cases are anencephalic, and most have a vertebral column and limbs. The blood supply is usually a vascular pedicle, which originates from the abdominal aorta or other regional vessels. The use of prenatal magnetic resonance imaging to confirm the prenatal diagnosis of fetus in fetu has also been described.6 Fetus in fetu occurs secondary to unequal division of totipotent cells at the blastocyst stage, causing a small cellular mass to be included in a more mature embryo.4 Molecular analysis using informative genetic markers showed no genetic differences between the host infant and the fetiform mass.7 Although the monozygotic twin theory was generally accepted, it might not be sufficient to explain the occurrence of multiple fetuses in fetu and its association with teratomas.8 Defective implantation of the blastocyst was postulated to be the underlying mechanism.9 A molecular genetic analysis in 2 cases of fetus in fetu showing different methylation patterns between a host infant and fetiform mass has been reported.10 This finding suggested that a blastocyst originating from one zygote may be implanted in the other blastocyst during the process of methylation or after the establishment of methylation.10 The main differential diagnosis of fetus in fetu is teratoma. Fetus in fetu can be distinguished from teratoma by the presence of a vertebra. Teratomas are most commonly seen in the sacrococcygeal or head and neck region, whereas fetus in fetu cases are typically located in the

Investigation of Preeclampsia Using Raman Spectroscopy

Preeclampsia is associated with increased perinatal morbidity and mortality. There have been numerous efforts to determine preeclampsia biomarkers by means of biophysical, biochemical, and spectroscopic methods. In this study, the preeclampsia and control groups were compared via band component analysis and multivariate analysis using Raman spectroscopy as an alternative technique. The Raman spectra of serum samples were taken from nine preeclamptic, ten healthy pregnant women. The Band component analysis and principal component analysis-linear discriminant analysis were applied to all spectra after a sensitive preprocess step. Using linear discriminant analysis, it was found that Raman spectroscopy has a sensitivity of 78% and a specificity of 90% for the diagnosis of preeclampsia. Via the band component analysis, a significant difference in the spectra of preeclamptic patients was observed when compared to the control group. 19 Raman bands exhibited significant differences in intensity, while 11 of them decreased and eight of them increased. This difference seen in vibrational bands may be used in further studies to clarify the pathophysiology of preeclampsia.

Neurodevelopmental outcome of 31 patients with borderline fetal ventriculomegaly.

AIM We present the neurodevelopmental outcome of patients with isolated borderline fetal ventriculomegaly. METHODS The present study was carried out at the Department of Pediatric Neurology, Istanbul Medical Faculty, Istanbul University in July-December 2010. Prenatal second trimester detailed ultrasound examinations were performed by obstetricians at the Prenatal Diagnosis Department of Istanbul Medical School, and 31 consecutive patients aged 8-33 months have been included in the study. Four patients with atrial diameters of over 15 mm and three patients with central nervous system development anomalies were excluded from the study. In order to assess the neuromotor development of patients, neurologic examinations and the Bayley Scales of Infant Development (BSID-III) were used. RESULTS Nine patients were female (29%) and 22 were male (71%). In the postnatal period, tuberous sclerosis was found in one patient, Down syndrome in one, and equinovarus foot deformity in one. Atrial diameter was <12 mm in 18 patients and >12 mm in 13. Cranial ultrasounds done in the first postnatal month revealed persisting ventriculomegaly in nine patients. The two patients who scored significantly low in all areas on the Bayley Scales of Infant Development were the patients with Down syndrome and tuberous sclerosis. The one scoring low in the motor area was the patient with the equinovarus foot deformity. The BSID-III scores of the patients whose prenatal ventricle diameter was <12 mm were within normal limits. The four patients showing slight developmental delay were the ones whose cranial ultrasound in the first postnatal month showed persisting ventriculomegaly. CONCLUSION In patients with borderline fetal ventriculomegaly, atrial diameter being more than 12 mm, the condition persisting in the first postnatal month and the presence of accompanying syndromes and malformations all constitute clear risk factors for neurodevelopmental outcome.

Prenatal Diagnosis of Persistent Left Superior Vena Cava and its Clinical Significance

BACKGROUND Persistent left superior vena cava (PLSVC) is a variant of systemic venous return which is observed in 0.3% of autopsies in the general population and in 4-8% of patients with congenital heart disease. AIMS To evaluate associated cardiac, extracardiac and chromosomal anomalies in prenatally diagnosed cases of PLSVC and to review their outcome. STUDY DESIGN Retrospective comparative study. METHODS The data of patients with a prenatal diagnosis of PLSVC between May 2008 and January 2013 were reviewed retrospectively. RESULTS Data of 31 cases were reviewed. Fifteen (48.4%) cases were associated with cardiac defects and 17 (54.8%) cases had associated extracardiac sonographic or postpartum findings. Two fetuses had karyotype anomalies. Outcome was significantly more favorable in cases not associated with cardiac defects in comparison to those associated with cardiac anomalies (84.6% vs. 33.3%, p=0.009). All cases with isolated PLSVC survived, while among the cases associated with extracardiac anomalies, with cardiac anomalies and with both extra-cardiac and cardiac anomalies, the survival rate was 75%, 50% and 22.2%, respectively. The most frequent group of cardiac anomalies associated with PLSVC was septal defects and VSD was the most common heart defect individually, being observed in nine fetuses. CONCLUSION Prenatally diagnosed PLSVC is associated with cardiac and extracardiac anomalies in the majority of cases. Outcome is significantly worse if PLSVC is associated with a cardiac defect, and the prognosis is excellent in isolated cases.