Prenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization.

A fetus with de novo ring chromosome 16 is presented. At 20 weeks' gestation, ultrasound examination demonstrated bilateral clubfoot, bilateral renal pyelectasis, hypoplasia of the corpus callosum, and transposition of the great vessel. Amniocentesis was performed. Chromosome analysis identified a ring chromosome 16 [47,XY,r(16)] and array comparative genomic hybridization (a-CGH) demonstrated that the ring included the euchromatic portion 16p11.2. Postmortem examination confirmed prenatal findings. This is the first case of de novo ring chromosome 16 diagnosed prenatally with a new phenotypic pattern and also reinforces the importance of offering amniocentesis with a-CGH if fetal anomalies are detected.

Obesity and fetal-maternal outcomes.

In women Obesity has a significant impact on every aspect of female reproductive life both in terms of infertility and early pregnancy complications. It is linked to a number of adverse obstetric outcomes as well as increased maternal and neonatal morbidity and mortality. These complications include miscarriage, congenital abnormalities, pre-eclampsia, gestational diabetes mellitus, iatrogenic preterm delivery, post-dates pregangy with increased rates of induction of labour, caesarian section and complications during and following operative procedures, post-partum haemorrhage, shoulder dystocia, infection, venous thromboembolism and increased hospital day. It is important to consider obese pregnant women as a high risk group with a linear increase in risk of complications associated with their degree of obesity.

Nonvisualization of fetal gallbladder: a case report and review of the literature.

Failure to visualize prenatally the gallbladder at ultrasound scan may indicate different fetal malformations with a highly variable prognosis, but also a simple anatomic variable. An adequate prenatal management could help in defining diagnosis and prognosis.

Hypertensive disorders of pregnancy.

Hypertension is the most common medical problem encountered during pregnancy, complicating 2-3% of pregnancies. Hypertensive disorders during pregnancy are classified into 4 categories, as recommended by the National High Blood Pressure Education Program Working Group on High Blood Pressure in Pregnancy: 1) chronic hypertension, 2) preeclampsia-eclampsia, 3) preeclampsia superimposed on chronic hypertension, and 4) gestational hypertension (transient hypertension of pregnancy or chronic hypertension identified in the latter half of pregnancy) (1). This terminology is preferred over the older but widely used term pregnancy-induced hypertension (PIH) because it is more precise.

Case report: successful of a spontaneous quadruplet pregnancy.

OBJECTIVE: To report a rare case of successful pregnancy and delivery of two pair of monozygotic twins (quadruplets). METHODS: We reported a Case Report of a 32-year-old nulligravida, who had had a previous twin pregnancy and was herself a twin assisted hatching. Prophylactic cervical cerclage sec. McDonald in the 23st week of pregnancy, hospitalization, and intensive care of pregnancy were performed. RESULTS: Successful pregnancy and delivery of two male and two female twins in the 34th week of pregnancy.

Obstetric management of IUGR.

The intrauterine growth retardation (IUGR) takes second position after the premature births as a cause for neonate with smaller weight for it's gestational age. Perinatal morbidity of retard children is important, but perinatal mortality is about eight times higher then normal weighted neonates. It is very important to make the right diagnosis of IUGR, the cause of their illness, the therapy they need and when it's necessary to find the right time, place and way of birth.

Fetal cystic lymphangioma of the neck: a case report.

OBJECTIVE: A case of fetal neck lymphangioma is reported METHODS: A 34-year-old primigravida presented with a fetus at 21+5 weeks' gestation with a neckl cystic mass. RESULTS: Diagnosis of neck lymphangioma was made; the couple opted for termination of pregnancy a 22 weeks; they refused fetal autopsy. CONCLUSION: Counseling in case of neck lynphangioma is still difficult. Prognosis in guarded as many patients decide for interruption of pregnancy.

Management of molar pregnancy.

Gestational Trophoblastic Disease (GTD) originates from placental tissue and is among the rare human tumors that can be cured even in the presence of widespread metastases. GTD include a spectrum of interrelated tumors including complete and partial hydatidiform mole, invasive mole, choriocarcinoma, and placental site trophoblastic tumor, that have different propensities for local invasion and spread. Although most GTD develop after a mole, they can follow any antecedent pregnancy.Transvaginal ultrasound, routinary dosage of beta-hCG and current approaches to chemotherapy, let most women with malignant gestational trophoblastic disease to be cured and their reproductive function preserved.

Obstetric management in Rh alloimmunizated pregnancy.

Rh alloimmunization occurs when maternal immune system is sensitized to D(Rh) erythrocyte surface antigens.The most common causes of maternal Rh alloimmunisation are blood transfusion and antepartum or intrapartum fetomaternal hemorrhage (abdominal trauma, abortion, ectopic pregnancy, invasive obstetric procedures, placental abruption, external cephalic version).The risk of alloimmunization is affected by several factors, including the degree of fetomaternal hemorrhage and maternal immune respons.Although the introduction of anti D prophylaxis reduced dramatically the rate of alloimmunization in susceptible women, his prevention is not universal and about 0.3% of susceptible women still become Rh D alloimmunized.The aim of this article is to review the management of the Rh alloimmunizated pregnant.

Prenatal diagnosis of limb abnormalities: role of fetal ultrasonography.

Fetal ultrasonografy is the most important tool to provide prenatal diagnosis of fetal anomalies. The detection of limb abnormalities may be a complex problem if the correct diagnostic approch is not established. A careful description of the abnormality using the rigth nomenclature is the first step. Looking for other associated abnormalities is the threshold to suspect chromosomal abnormalities or single gene disorder. According to the patogenic point of view, limb abnormalities may be the result of malformation, deformation, or disruption. The prenatal diagnosis and the management of limb abnormalities involve a multidisciplinary team of ostetrician, radiologist/sonologist, clinical geneticist, neonatologist, and orthopedic surgeons to provide the parents with the information regarding etiology of the disorder, prognosis, option related to the pregnancy and recurrence risk for future pregnancies.The aim of this review is to describe the importance of detailed fetal ultrasonography in prenatal diagnosis of limb abnormalities.

Echotomography of craniosynostosis: review of literature.

Ultrasound examination of the foetal cranium can diagnose fetal cranial defects and abnormal skull shape and it's aim is to detect in prenatal age most various abnormalities of the skull, brain and foetal face. The changes of each of these components frequently determine the growth of the other two.The abnormalities of the foetal head frequently appear and can associate serious pathological sceneries of high foetal and perinatal morbidity and mortality.Anomalies of the head have been observed using ultrasound study during the early second trimester. To establish diagnosis and long term prognosis is particularly important and helpful correct detection of the nature of the malformation.

Fetal intracranial cysts: prenatal diagnosis and outcome.

Intracranial cysts are central nervous system malformations involving different brain regions, and commonly diagnosed during prenatal period by ultrasound scan (US). A malformative cyst is a nontumoral fluid-filled collection exerting a mass effect on the brain parenchyma and/or on the ventricles, regardless of its location within subarachnoid spaces, brain or ventricles, and of the nature of its limiting membrane, which is always unknown prenatally. Although a large number of case reports have been published, many uncertainties remain concerning their epidemiology, pathogenesis, and outcome. Most of these lesions, if not associated with other fetal anomalies, are benign in nature, remain clinically silent, do not evolve or even frequently regress spontaneously and do not impair physiologic neurodevelopment. The normality of the adjacent brain is the major argument in favour of a malformative lesion. The correct diagnosis is of crucial importance to exclude the presence of other rare lesions (e.g. cystic neoplasms or intracranial hemorrhage) that could negatively affect neurodevelopmental outcome of the child. To establish a correct prognosis all efforts must aim to precisely interpret the US images accurately analyzing the brain anatomy.

Prenatal diagnosis of left isomerism with normal heart: a case report.

OBJECTIVE: Left isomerism, also called polysplenia, is a laterality disturbance associated with with paired leftsidedness viscera and multiple small spleens. Left isomerism, heart congenital abnormalities and gastrointestinal malformation are strongly associated. METHODS: We present a case of prenatal diagnosis of left isomerism in a fetus with a structurally normal heart. CONCLUSION: Left isomerism syndrone may coesist with a structurally normal heart. If prenatal left isomerism is suspected, even in presence of a normal heart, is mandatory to esclude sign of gastrointestinal abnormalities, as late poly hy dramnios, and cardiac rhytm disturbance during the pregnancy and neonatal age.

A prenatally diagnosed case of sirenomelia with dextrocardia and omphalocele.

OBJECTIVE: Sirenomelia (Mermaid syndrome) is a rare anomaly of caudal region of the body, presented with fusion of the lower limbs. Genito-urinary, gastro-intestinal, neural tube and vertebral anomalies are found in most cases. METHODS: We present a case of sirenomelia diagnosed in the first tri-mester, associated with dextrocardia, and omphalocele CONCLUSION: First trimester diagnosis of sirenomielia is possible and early diagnosis gives the parents the option of early pregnancy termination.

Fetal lung lesions diagnosis: the crucial role of ultrasonography.

Fetal lung lesions may cause significant effects of mass and may evolve into a non-immune hydrops and lead to the death of the fetus or the child. Treatment options for these severely affected infants are constantly evolving. The widespread use of ultrasound in prenatal diagnosis, in tertiary center like ours, allows us to identify the fetus, including lung lesions more 'small. Prenatal diagnosis and possible therapeutic intervention in the immediate prenatal or postnatal period has significantly changed the quality of life and the survival of fetuses and infants, especially those who were completely asymptomatic at birth.Object of our interest is the pulmonary sequestration and congenital pulmonary malformation is the second in order of frequency, with an incidence between 0.15% and 6.4% of cases.

Ultrasound Scanning in Fetal Renal Pelvis Dilatation: not only Hydronephrosis.

Pelvic dilatation is the alteration of the urinary tractmost frequently detected by maternal-fetalultra-sound. Hydronephrosis is not a diagnosis; it is an imagefinding. The diagnosis is the cause that produces it. Since pelvic dilatation is relatively frequent in thenormal fetus, and the definition and diagnosis of hy-dronephrosis are difficult, once it is detected, adequate follow-up is required. Therefore, it is important for the urologist and obstetrician to understanddifferential diagnosis and clinical implications in order to offer an accurate counselling to the parents.