Journal of Prenatal Medicine

BACKGROUND AND OBJECTIVES: high concentrations of maternal C-reactive protein have been associated with adverse pregnancy outcome, and premature uterine contraction may be predicted by elevated levels of C-reactive protein. This may ultimately be simple and cost-effective enough to introduce as a low-risk screening program. PATIENTS AND METHODS: an observational case control study was performed from May 1st, 2010 to December 1st, 2010 at Maternity Teaching Hospital-Erbil/ Kurdistan Region/ Iraq...

INTRODUCTION: the use of Next Generation Sequencing (NGS) in the diagnosis of rare genetic pathologies is becoming ever more widespread in clinical practice. The following study reports the first case of preimplantation diagnosis through NGS of a form of LAMA2-related muscular dystrophy. CASE REPORT: a couple came to our Reproductive Medicine Centre for a preconceptional genetic consultation and for advice regarding secondary infertility. The couple already had a 3-year-old child who was suffering from a form of muscular dystrophy that has yet to be genetically defined...

OBJECTIVE: to describe the epidemiological data of the population born with the diagnosis of Congenital Heart Disease (CHD); to compare diagnoses made using fetal echocardiography with the findings from postnatal echocardiography or anatomopathological examination of the heart; and to evaluate mortality among newborns that underwent surgical treatment. METHODS: this was a cohort study with information gathered from the medical records of the pregnant women and their newborns diagnosed with CHD during the fetal or postnatal periods, between January 2008 and December 2012...

No abstract text is available yet for this article.

OBJECTIVE: to determinate the role of heterozygosis of M34T mutation of GJB2 gene in non syndromic congenital deafness. METHODS: retrospective study between March 2010 and June 2013. Molecular screening for 35delG and M34T mutations of the GJB2 gene was offered to all women undergoing to second trimester genetic amniocentesis. Patients were excluded from the study group if one of the following conditions were present: infections, fetal abnormalities, family history for congenital deafness, diagnosis of chromosomal abnormalities, and consanguinity between parents...

UNLABELLED: The rhabdomyoma constitutes more than 60% of all cardiac tumors that are diagnosed in the prenatal and postnatal age. In more than 50% of cases, it is the first clinical manifestation of tuberous sclerosis (TS), autosomal dominant genetic condition and multisystem involvement. METHODS: we report a case of cardiac rabdomyomatosis in twin pregnancy bicorial biamniotic, with suspicion for tuberous sclerosis, diagnosed at our hospital. For the diagnosis of cardiac rhabdomyomas we used the two-dimensional ultrasound, and 3D echocardiography...

INTRODUCTION: hemoglobinopathies constitute a major health problem worldwide. These disorders are characterized by a clinical and hematological phenotypic heterogeneity. The increase of HbA2 is an invaluable hematological marker of the beta-thalassemia heterozygosis and of double heterozygosis for the alleles of delta and alpha globin genes or for the alleles of delta and beta globin genes which can cause the increase of HbA2 up to normal or borderline values. CASE REPORT: we report the case of a 30-year-old woman (first pregnant) who was admitted to our Unit at 12 weeks for a screening for thalassemia...

OBJECTIVES: to verify whether vaginally intake of docosahexaenoic acid (DHA), an n-3 long chain polyunsaturated fatty acid, would improve length of gestation and newborn birth weight in high risk pregnancies for preterm delivery. METHODS: this study was a randomized, double-blind, controlled, clinical trial, including women at high risk for preterm delivery. Of 74 eligible women, 31 refused to participate and 34 were enrolled and randomized with equal chance of selection, 22 were assigned to treatment group and 21 were assigned to the control group, and received placebo...

INTRODUCTION: fetal rhabdomyoma is the most common fetal cardiac tumor and is often associated with tuberous sclerosis. Usually the tumors are relatively small and show no mediastinal shift. Fetal hydrops and pericardial effusion are rarely seen. CASE: in this case report we present the neonatal clinical course of a case of prenatal diagnosis of giant cardiac rhabdomyomas. CONCLUSION: an early prenatal diagnosis may help for an adequate planning of perinatal monitoring and treatment with involvement of a multidisciplinary team...

OBJECTIVE: Stüve-Wiedemann Syndrome (SWS; MIM 601 559) is an autosomal-recessive syndrome characterized by myotonia with mask-like face, skeletal dysplasia and intrauterine growth restriction. Other clinical findings are pursed mouth, hypoplastic midface, congenital contractures and muscular hypotonia. We discuss about the importance of prenatal diagnosis in SWS and the possibility of survival after the first year of life in patients suffering from this disease. METHODS: we report a case of Stüve-Wiedemann Syndrome detected by morphological examination in our Operative Unit...

INTRODUCTION: prenatal diagnosis in families at risk for spinal muscular atrophy (SMA) mainly of type 1 is often applied due to the high incidence, most severe and newborn outcome of the disease. CASE: we present our clinical experience for 36 families with history of having at least one child with homozygous deletions of the SMN1 gene between. Seventeen families requested for prenatal prediction and of these cases, 8 fetuses were diagnosed to be at risk of developing the disease and the parents decided to terminate the pregnancy...

INTRODUCTION: Sjögren's syndrome is a rare systemic autoimmune disorder associated with pregnancy (0.3-0.6%). The typical occurrence of anti-Ro/SSA and anti-La/SSB autoantibodies in the maternal serum can modify the perinatal outcome: neonatal lupus and congenital heart block are the most common fetal complications. CASE: we report a case of pregnancy complicated by a secondary form of SS associated with antiphospholipid syndrome and fetal myocardial echogenicity...

OBJECTIVE: the objective of our research was to study uterine artery doppler indices and their evolution over time after metroplasty and subsequent pregnancy in patients whose septate uterus was the only explanation for infertility. MATERIALS AND METHODS: a retrospective study. The uterine arteries of 78 patients with septate uteri were evaluated using endovaginal color doppler ultrasound before and after metroplasty. Fifty-one patients became pregnant after metroplasty and were selected as study group, pregnancy occurred within 17 months...

INTRODUCTION: this case report highlights the important role of a multidisciplinary team's task in the care of pregnant women with Marfan's syndrome (MFS), a systemic disorder of connective tissue that is transmitted as an autosomal dominant trait. CASE: a 42 year-old italian pregnant woman with Marfan's syndrome and degenerative heart disease (aneurysmatic dilatation of the aortic root, mitral regurgitation and prosthetic mitralic valve) was clinically assessed jointly by an obstetrician and a cardiologist, 'the obstetric team specialised in management of high risk pregnancy', every 2-3 weeks from the 21(th) week of gestation...

No abstract text is available yet for this article.

OBJECTIVES: the aims of the present study were to compare the haemodynamic effects of oxytocin and carbetocin and to assess the efficacy of these two drugs in terms of blood loss and the additional uterotonic needed in caesarean section at high risk of primary post-partum haemorrhage. METHODS: women in the carbetocin group (group A) received a bolus of 100 μg IV; women in the control group (group B) received 20 IU of oxytocin in 1000 ml of 0,9% Na-Cl solution IV (150 mL/hour)...

INTRODUCTION: placental mesenchymal dysplasia (PMD) is a rare placental anomaly characterized by placentomegaly and grape-like vesicles which resemble molar pregnancy. CASE: we report the case of 33-year-old woman (1-gravid) who visited our clinic at 11 weeks of gestation due to a suspected molar pregnancy. Ultrasound examination showed an enlarged placenta with multiple vesicular lesions. Maternal human chorionic gonadotropin level was normal and chorionic villus sampling showed a normal male karyotype (46 XY)...

OBJECTIVE: this paper reports an association between an increased Nuchal Translucency (NT) and Osteogenesis Imperfecta (OI), a type of skeletal dysplasia. Measurement of fetal NT at 10-14 weeks of gestation is a sensitive and effective screening method for chromosomal abnormalities. METHODS: a 35-year- old Caucasian woman in her fourth pregnancy was referred to our clinic for an ultrasound scan at 12 weeks of gestation, that confirmed increased Nuchal Translucency...

The aim of this study was to report the clinical features, management, and outcome of complete hydatidiform mole with a coexisting viable fetus. Two cases are reported. In both cases ultrasound examination demonstrated a normally growing live fetus alongside a normal placenta and an additional intrauterine echogenic mass with features of hydatidiform mole. The hCG levels were significantly increased and fetal karyotypes were normal. A cesarean section performed at 28 weeks' gestation in the first case and at 26 weeks' gestation in the second one resulted in the delivery of live normal infant and two adjoining placentas in both cases...

OBJECTIVE: a fetus with a ring chromosome 20 is presented. METHODS: at 16 weeks' gestation, ultrasound examination evidenced no apparent structural malformation. Amniocentesis was performed for maternal anxiety. RESULTS: chromosome analysis identified a ring chromosome 20 and array-CGH demonstrated that the ring including micro-deletion of the short arm in 20p13, that was extended for about 632.2 kb and a micro-deletion of the long arm in 20q13...