Cytomegalovirus infection in pregnancy: review of the literature

The aim of this review is to summarize the principles of cytomegalovirus (CMV) infection in pregnancy

Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome

Cardiofaciocutaneous syndrome (CFCS) belongs to a group of developmental disorders due to defects in the Ras/Mitogen-Activated Protein Kinase (RAS/MAPK) signaling pathway named RASophaties. While postnatal presentation of these disorders is well known, the prenatal and neonatal characteristics are less recognized. Noonan syndrome, Costello syndrome, and CFCS diagnosis should be considered in pregnancies with a normal karyotype and in the case of ultrasound findings such as increased nuchal translucency, polyhydramnios, macrosomia and cardiac defect. Because all the RASopathies share similar clinical features, their molecular characterization is complex, time consuming and expensive. Here we report a case of CFCS prenatally diagnosed through Next Generation Prenatal Diagnosis (NGPD), a new targeted approach that allows us to concurrently investigate all the genes involved in the RASophaties

Nuchal cord entanglement and outcome of labour induction

Aim of the study. To assess whether nuchal cord entanglement would affect the outcome of elective labour induction. Method. In a group of pregnant women, the outcome of elective labour induction was evaluated in relation to a list of possibly related variables, including the presence of nuchal cord at delivery. Results. Overall 184 women submitted to induction of labour were prospectively examined. Vaginal delivery was observed in 141 women (76.6%), with 105 of them (or 57%) having been delivered within 24 h from induction. At delivery, nuchal cord was detected in 59 out of 184 neonates (32%). Among the pre-induction and postinduction variables, only parity ³ 1 (OR 3.44; 95% CI: 1.67-7.06) and a Bishop score ³ 5 (OR 3.59; 95% CI: 1.93-6.70) appeared statistically associated with the success of induction. The chance of vaginal delivery within 24 hours from labour induction (31/59 or 53% vs 74/125 or 59%; OR: 0.92; 95% CI: 0.75-1.12) were comparable among the neonates with and without nuchal cord at birth. Conclusions. In women undergoing cervical ripening, multiparity and a favourable cervical score seem the only factors that predict a successful induction. An entangled cord around the fetal neck does not seem to increase the risk of induction failure

Two-dimensional fetal echocardiography: where we are

Congenital Heart Disease (CHD) is the most common severe congenital abnormality in the newborn and the cause of over half the deaths from congenital anomalies in childhood. Prenatal diagnosis, possible as early as 15 weeks of gestation, allows physicians and families the greatest number of therapeutic options, and can improve the postnatal outcome. There are several potential indications for performing such examination. Evaluation of the heart in the setting of restricted fetal growth or fetal distress is often recommended. Whenever extracardiac anomalies are detected during fetal ultrasound examination or in presence of chromosomal abnormalities detected with amniocentesis, cardiac assessment is mandatory. The test should also be performed as part of the assessment of fetal arrhythmias. Finally, whenever congenital heart disease is suspected for other reasons, such as maternal exposure to teratogenic substances or a parental history of previous children with congenital lesions, the examination should be considered

Analysis of fetal biometric measurements in the last 30 years

Objectives. To compare fetal biometric measurements with standard growth charts for ultrasound parameters existing from the last 30 years. Study design. A preliminary prospective study. Setting. Artemisia Mean Centre of Perinatal Diagnosis, Rome, Italy. Material and method. A cross sectional study involving 1000 pregnant women with uncomplicated singleton pregnancy between 14th and 41th weeks of gestation from 1 January to 30 June 2008. All recruited pregnant women enrolled had an abdominal ultrasonography for fetal biometry. For each measurement, regression models were fitted to estimate the mean and SD. The results were compared with existing references from the last 30 years using Student’s T distribution. Moreover, neonatal weights were obtained from 1977 to 2008 by ISTAT. Results. One thousand normal fetuses from pregnant women, between 22th and 23th weeks, between 32th and 33th weeks and at 38th week, were thoroughly measured. There were significant differences from the comparison with our data for each gestational age: femur length and homer length, abdominal circumference, head circumference and occipito-frontal diameter were longer than all parameters of existing references from the last 30 years. The analysis of neonatal weights on ISTAT data from 1977 to 2007 demonstrated a significant increment through the years. Conclusion. Fetus is grown up across the years. It is necessary to modify the standard growth charts for ultrasound parameters existing from the last 30 years with actually fetal biometric measurements. It is helpful for a correct clinical approach and for an appropriate management mother-fetus

Next generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis

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. The disease had been diagnosed at the age of 6 months. A blood sample was taken from both parents and the child in order to analyze the DNA through the Illumina NextSeq 500 platform and an enrichment protocol, Trusight One Sequencing Panel, created by Illumina for the simultaneous sequencing of the ex-on regions of 4,813 clinically relevant genes. This led to the identification of 2 point mutations in the LAMA2 gene, each inherited by a parent. The couple then underwent a cycle of IVF (in vitro fertilization). A preimplantation genetic diagnosis was carried out on the embryos obtained after setting up a protocol for the analysis of a point mutation in the LAMA2 gene, (this mutation has yet to be described in literature) and the normal embryos together with the recessive LAMA2-related muscular dystrophy related carriers were transferred. There were no complications during pregnancy, which terminated with a cesarean section at 39 weeks and the birth of healthy 3430-gram baby. Conclusions: given its robustness, reliability and reproducibility, NGS could also be useful in prenatal diagnosis. This technique could guarantee an ample and quick analysis of the genes involved in development, making it possible to organize medical interventions during pregnancy and after birth

Significance of heterozygosis M34T mutation of GJB2 gene in non-syndromic congenital deafness. Retrospective analysis of 12,472 samples of amniotic fluid

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. Results: a total of 12.472 Caucasian women gave informed consent for this test. Seventy-seven cases were excluded. From the 12.395 amniotic fluid analysis remained, the following was found: 2 cases of 35delG homozygosis and 352 cases of heterozygous carriers (42 M34T mutation, 298 35delG mutation, 12 double heterozygosis M34T/35delG). The follow up in first year of life in the 42 newborns with heterozygosis for M34T mutation showed a mild deafness in 23 cases. Conclusions: in our series, presence of heterozygosis M34T mutation is associated in more than 50% of cases to mild congenital deafness

Six consecutive false positive cases from cell-free fetal DNA testing in a single referring centre

Recent studies have proposed the introduction of cell-free fetal DNA testing (NIPT - Non Invasive Prenatal Testing) in routine clinical practice emphasizing its high sensibility and specificity. In any case, false positive and false negative findings may result from placental mosaicism, because cell-free fetal DNA originates mainly from placenta. Case: we report six cases of women who underwent chorionic villus sampling (CVS) or amniocentesis to confirm the results from NIPT: two Turner syndromes, two Triple X, one Patau syndrome, one Edward syndrome. Results: using classic cytogenetic analysis and, also, Array - Comparative Genomic Hybridization(Array CGH) the karyotype of all 5 fetuses was found to be normal. Conclusion: results from NIPT must always be confirmed by invasive prenatal diagnosis. It is mandatory to inform the patient that the CVS and amniocentesis still represent the only form of prenatal diagnostic test available

Does the ESHRE/ESGE Classification of Mullerian Anomalies Correlate with the Occurrence Of Pregnancy? A Comparison between Two Definitions of Myometrial Thickness

Since the introduction of the European Society of Human Reproduction and Embryology/European Society for Gynaecological Endoscopy (ESHRE/ESGE) classification of Mullerian anomalies, various authors have raised major concern about its clinical implications, as specific diagnostic criteria that clearly correlate to pregnancy have not yet been validated in clinical practice by any prospective or retrospectives studies. In this study, we aimed to correlate the ESHRE/ESGE classification with the occurrence of pregnancy, consideringthetwo different definitions of myometrial thickness