Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements.

Carriers of apparently balanced chromosomal rearrangements (ABCRs) have a 2-3-fold higher risk of carrying an abnormal phenotype, when compared to the average population. Apparently balanced chromosomal rearrangements can be imbalanced at the submicroscopic level, and changes in the gene structure, formation of a new chimeric gene, gain or loss of function of the genes and altered imprinting pattern may also affect the phenotype. Chromosomal microarray (CMA) is an efficient tool to detect submicroscopic imbalances at the breakpoints as well as in the whole genome. We aimed to determine the effectiveness of array-comparative genomic hybridization (aCGH) application in phenotypically affected cases with ABCRs at a single center from Turkey. Thirty-four affected cases (13 prenatal, 21 postnatal) carrying ABCRs were investigated with CMA. In postnatal series, ABCRs were familial in 7 and de novo in 14 cases. Seven de novo cases were imbalanced (in postnatal series 33.3% and in de novo cases 50.0%). Out of 13 prenatal cases, five were familial and eight were de novo in origin and two de novo cases were imbalanced (in 15.4% prenatal series and in 25.0% de novo cases). No cryptic imbalance was observed in familial cases. The anomaly rates with array studies ranged between 14.3-25.0% in familial and between 20.0-57.5% in de novo cases of postnatal series in the literature. Studies focused on prenatal ABCR cases with abnormal ultrasound findings are limited and no submicroscopic imbalance was reported in the cohorts. When de novo postnatal or prenatal results were combined, the percentage of abnormalities detected by CMA was 40.9%. Taking this contribution into consideration, all ABCRs should be investigated by CMA even if the fetal ultrasound findings are normal.

Recurrent increased nuchal translucency: a first trimester presentation of familial 13p satellite deletion.

Chromosome 13 is one of the acrocentric chromosomes of the human karyotype. Acrocentric chromosomes are the most variable chromosomes in the human karyotype and these variations appear to have no clinical consequences. To the best of our knowledge, this is the first reported case of a first trimester presentation of a 13 short arm satellite deletion with markedly increased nuchal translucency (NT). In this case, the 13p short arm satellite deletion was associated with increased NT in two pregnancies from the same couple.

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.

The effect of amniocentesis on preterm delivery rate in women with uterine myoma.

OBJECTIVES: To evaluate the effect of genetic amniocentesis on the preterm delivery rate in women with uterine myoma. METHODS: The volume of each fibroid and the relation to the placenta, myometrium and uterine corpus were recorded. Amniocentesis was performed by an experienced operator, if indicated. RESULTS: During the study 14,579 pregnant women were examined and 234 had complications of uterine myomas (1.61%). Forty-three women delivered prematurely (19.46%). The results revealed that multifocal fibroids in relation to the myometrium, uterine myoma subjacent to the placenta, total myoma volume greater than 150 cm3 are statistically significant independent risk factors for preterm delivery, while amniocentesis was not found to be an independent risk factor for preterm delivery. CONCLUSIONS: Although having uterine myoma is a fairly known cause of preterm delivery, second trimester genetic amniocentesis does not seem to have any additional adverse effect on the preterm delivery rate in women with uterine myomas.

Cranial imaging spectrum in hypertensive disease of pregnancy.

OBJECTIVE: To determine cranial imaging findings in patients with severe preeclampsia, eclampsia and HELLP syndrome and the correlation between these findings and neurological symptoms. MATERIALS AND METHODS: CT or MRI findings of 120 patients diagnosed with severe preeclampsia, eclampsia and/or HELLP syndrome between January 1998 and December 2005 are presented. RESULTS: Pathological imaging findings were observed in 28.1% (n = 32) of the severe preeclampsia group, in 43.3% (n = 30) of the HELLP group, in 51.35% (n = 27) of the eclampsia group and in 61.9% (n = 21) of the eclampsia + HELLP group and in 45% of all patients. Thirty-five patients had specific pathology defined as ischemic lesions, edema, and perivascular microhemorrhage. Infarcts were found in seven, intracranial hemorrhage in seven, hydrocephaly in two, dural sinus thrombosis in two and a pineal cyst in one patient. Specific lesions were generally located in the posterior parietal and occipital lobes. Five patients died due to intracranial hemorrhage and one patient due to septic shock. CONCLUSION: A wide imaging spectrum from the ischemic lesion to severe intracranial hemorrhage can be detected in complicated cases of hypertensive diseases of pregnancy. It is essential to perform cranial imaging in patients with symptoms and neurological deficits.

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

OBJECTIVES: 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. METHODS: Records of fetuses with diastematomyelia diagnosed in our institution between January 2000 and June 2005 were collected. All liveborn fetuses were examined by a pediatric neurologist. Pre- and postnatal data were analyzed. A search was then conducted using PubMed to review previously reported cases in the literature. RESULTS: Eight cases of diastematomyelia were diagnosed during the study interval. The mean (range) gestational age at diagnosis was 21 (13-25) weeks. The main sonographic findings were widening of the spinal canal in the coronal view and an additional echogenic focus in the posterior part of the spinal column in the axial view. The diagnosis of associated open spina bifida was made in one fetus with elevated levels of amniotic fluid alpha-fetoprotein (AF-AFP) and acetylcholinesterase (AF-AChE) and the pregnancy was terminated. The other seven cases of diastematomyelia had normal levels of AF-AFP and AF-AChE and were considered isolated. One pregnancy miscarried spontaneously 1 week following amniocentesis and the remaining six were delivered at term. Review of the literature revealed 14 reports involving 26 cases of prenatally diagnosed diastematomyelia. Twelve cases had normal biochemistry and/or no additional abnormalities and all had a favorable outcome. CONCLUSIONS: When diastematomyelia is not associated with other spinal anomalies, the prognosis is favorable. Prenatal diagnosis is generally made in the second trimester but sonographic signs may be recognized as early as the first trimester. Intrauterine diagnosis of diastematomyelia should facilitate appropriate management of affected cases.

Heart failure caused by thyrotoxicosis in pregnancy--case report.

PURPOSE OF INVESTIGATION: To emphasize the importance of untreated thyrotoxicosis in pregnancy. When left untreated, severe maternal, fetal and even neonatal adverse outcomes such as preeclampsia, premature labor, low birthweight infants and increased perinatal mortality are prone to complicate the pregnancy. PRESENTATION: A case of thyrotoxicosis untreated during pregnancy is reported. CONCLUSION: Many authors have concluded that there is no need for routine assessment of the thyroid hormones and TSH levels in pregnancy. Nonetheless laboratory assessment for thyrotoxicosis should be done in cases with suspicious symptoms and signs. All thyrotoxic women should also be under treatment during pregnancy. Early diagnosis and/or control of hyperthyroidism would decrease the incidence of complications during pregnancy.

Short rib-polydactyly syndrome.

INTRODUCTION: Short rib-polydactyly syndrome (SRPD) is an autosomal recessive, lethal skeletal dysplasia. It is characterized by short limb dwarfism, short ribs with thoracic hypoplasia, polydactyly, and multiple anomalies of major organs. CASE REPORT: We report a case of SRPD subtype II (Majewski) that was detected in the 36th week of gestation, showing hydropic change, narrow thorax, shortened limbs, protuberant abdomen, micromelia, polydactyly and extremely low set ears, depressed nasal bridge, and cleft palate. The family was informed of the fatal outcome of the condition. Delivery was induced, and the baby died just after the birth. DISCUSSION: Prenatal diagnosis is established with postmortem radiographic and pathologic examinations.

Acute effects of maternal smoking on fetal hemodynamics.

OBJECTIVE: To investigate acute effects of cigarette smoking on fetal hemodynamics. METHOD: Sixty seven women between 32nd to 40th weeks of gestation were evaluated. Maternal blood pressure and heart rate, fetal heart rate (FHR) tracing, umbilical and fetal middle cerebral arterial (MCA) color Doppler measurements were evaluated. Pre- and postsmoking results were compared with paired t-test. RESULTS: Maternal heart rate significantly increased after smoking. Baseline FHR and FHR variability remained unchanged. The number of participants who had a reactive NST was 60 in 67 before smoking (89.5%) and decreased to 47 after smoking (70.1%) (p=0.009). There were no significant changes between maximum and minimum flow velocities, pulsatility index (PI), resistance index (RI) and systolic/diastolic flow ratio (S/D) of umbilical and middle cerebral arteries. CONCLUSION: The nicotine load of a single cigarette may be inadequate to cause a detectable decrease in utero-placental blood flow; however, smoking prior to the FHR recording may alter the FHR reactivity.

Acute severe reversible oligohydramnios induced by indomethacin in a patient with rheumatoid arthritis: a case report and review of the literature.

Although the association between oligohydramnios and indomethacin use for premature labor has been well known for many years, there have been few cases published about it. We present a case of indomethacin-induced oligohydramnios due to use in a patient for rheumatoid arthritis. A 27-year-old G2P1 woman was referred to our prenatal unit with oligohydramnios at 33 weeks of pregnancy. Ultrasonography revealed severe oligohydramnios with an amniotic fluid index of 0.9 cm. She gave a history of daily 150 mg indomethacin use for newly diagnosed rheumatoid arthritis. All possible reasons for oligohydramnios were excluded and indomethacin was discontinued. In four days the amniotic fluid was observed as normal. We concluded that the oligohydramnios caused by indomethacin occurs quickly, is dose-related and reversible. Amniotic fluid volume should be monitored while using indomethacin.

Chronic uterine inversion: preservation of the uterus--case report.

Uterine inversion is a rare and dangerous complication of labor. Although it can be reconstructed successfully with prompt intervention in acute stages, surgical interventions are usually mandatory in sub-acute or chronic phases. In this report we present a case of chronic uterine inversion, that was successfully treated with abdominal surgery.

The outcome of pregnancy among patients receiving hemodialysis treatment.

Pregnancy among women receiving hemodialysis as a renal replacement therapy is rare and the chance of a successful delivery is relatively low. In this article, we present 3 cases of women conceiving either before or after the initiation of hemodialysis. The various risks of each pregnancy and the outcome are discussed as well as the latest management guidelines for pregnant dialysis patients.

Plexiform neurofibroma during and after pregnancy.

Neurofibromatosis is a genetic disease that affects multiple organ systems, and has a wide range of clinical features. Neurofibromatosis in pregnancy is encountered with a frequency of 1:2434 to 1:18,500 deliveries. Plexiform neurofibromas are rare subcutaneous nodules or amorphous overgrowth of subcutaneous tissues, which may affect the underlying bone, and produce deformities. We present a patient with a giant plexiform neurofibroma of the thigh which got larger in pregnancy, and shrunk a bit in the postpartum period.

Non-immune hydrops fetalis in the first trimester: a review of 30 cases.

OBJECTIVE: To evaluate the etiology and outcome of non-immune hydrops fetalis diagnosed in the first trimester of pregnancy. METHODS: 30 cases with fetal hydrops diagnosed between 10 and 14 weeks of pregnancy at the prenatal diagnosis unit of Istanbul Medical Faculty were reviewed. Sonographic findings, fetal chromosome profiles, and outcomes were analyzed. RESULTS: NIHF was found to be associated with structural abnormalities in 25 (83.3%) cases, and chromosomal abnormalities in nine (47.3%) of the 19 analyzed cases. Nuchal translucency measurements were greater than 3 mm in 28 of the cases (93.3%), and cystic hygroma was the most common detected abnormality (n: 22; 73.3%). All pregnancies with nonimmune hydrops resulted in abortion, intrauterine fetal death, or termination of the pregnancy. CONCLUSION: Fetal hydrops diagnosed in the first trimester of gestation is associated with a higher incidence of aneuploidy, and it has a high mortality, even in fetuses with normal chromosomes.

Uterine artery embolization in a 10-week cervical pregnancy with coexisting fibroids.

A 36-year-old woman, gravid 3, para 1, abortus 1, was admitted to our department at 10 weeks and 4 days of gestation with the diagnosis of cervical pregnancy and multiple uterine fibroids. After admission she underwent angiographic embolization of bilateral uterine arteries followed by intraamniotic 70-mg methotrexate injection. Despite being given a second dose of methotrexate injection 1 week later, the gestational sac did not resolve spontaneously, thus vacuum evacuation and curettage of the cervical canal was required on the 15th day of embolization. The patient was discharged in good condition. She had no complaints by post-operative at month 11, except amenorrhea. Her uterine fibroids markedly decreased in size after the procedure. As a result, embolization of uterine arteries provided surgical evacuation of cervical pregnancy with minimal hemorrhage, and the patient's potential fertility was preserved, but a long-term amenorrhea was observed.