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Autism is an etiologically and clinically heterogeneous group of disorders, diagnosed solely by the complex behavioral phenotype. On the basis of the high-heritability index, geneticists are confident that autism will be the first behavioral disorder for which the genetic basis can be well established. Although it was initially assumed that major genome-wide and candidate gene association studies would lead most directly to common autism genes, progress has been slow. Rather, most discoveries have come from studies of known genetic disorders associated with the behavioral phenotype. New technologies, especially array chromosomal genomic hybridization (aCGH) and next generation sequencing (NGS), have both increased the identification of putative autism genes and raised to approximately 20% the percentage of children for whom an autism-related genetic change can be identified. Incorporating clinical geneticists into the diagnostic and autism research arenas is vital to the field. Interpreting this new technology and deciphering autism's genetic montage require the skill set of the clinical geneticist including knowing how to acquire and interpret family pedigrees, how to analyze complex morphologic, neurologic, and medical phenotypes, sorting out heterogeneity, developing rational genetic models, and designing studies. The current emphasis on deciphering autism spectrum disorders has accelerated the field of neuroscience and demonstrated the necessity of multidisciplinary research that must include clinical geneticists both in the clinics and in the design and implementation of basic, clinical, and translational research. [ABSTRACT FROM AUTHOR]

Duchenne muscular dystrophy (DMD) is the most common muscle disease of childhood. One in every 3,500 newborn boys has Duchenne muscular dystrophy. Very rarely, it also affects girls (approximately 1 in 50 million girls). It occurs across all races and cultures. Symptoms of DMD usually appear between ages of two and five years old and may include difficulty in running, jumping, climbing and rising from the floor, frequent falls, enlarged calf muscles, toe walking and delays in language development. The first muscles affected are those around the hips and upper thigh. Weakness gradually progresses to include all the muscles used for movement (skeletal muscles), the muscles used for breathing and the heart. Duchenne is typically diagnosed in boys between the ages of 3 and 7. Although there is currently no cure for Duchenne muscular dystrophy, there is a lot that can be done to manage the symptoms and to considerable improve the quality and length of life. A variety of different medical professionals will be needed to be called on at different times to manage the many different aspects of the disease. Care will be led and organized by a neurologist who is a specialist in Duchenne muscular dystrophy. Many researchers are actively pursuing several new strategies in DMD, such as gene therapy and exon skipping, gene repair. Human clinical trials are under way for some of these strategies. [ABSTRACT FROM AUTHOR]

Vascular lesions encountered in newborns may be vascular tumors or vascular malformations, both with intrauterine development and present at birth. Congenital hemangiomas are the most commonly encountered vascular tumors in newborns. If the hemangiomas are characterized by spontaneous regression, the vascular malformations persist or even have an ascending tendency consistent with the fetal or neonatal growth. The size of the vascular lesions is directly proportional to the frequency of the indirect signs, such as cardiac signs of vascular redirecting, from the arrhythmias to the heart failure, with the unfavorable prognosis and with the rate of its complications. We present, comparatively, a case of congenital planar hemangioma extended to the level of the hemiface, frontal, temporal and parietal right area, without diagnosis or signs of prenatal suspicion in a male fetus, with the weight appropriate for the gestational age, who began to present, insidiously, at 32 weeks of gestation, arrhythmia, respectively extrasystoles, with a frequency of 4\1, persistent until birth and in the neonatal period, and a case of Galen aneurysmal malformation, diagnosed prenatally at 28 weeks of gestation, with progressive intrauterine evolution and with important cardiac impact, respectively right heart failure with tricuspid regurgitation and dilation of the right atrium. The importance of prenatal diagnosis of hemangiomas, especially of the extended ones, prominent and characterized by fragility, is given by the justification of the signs of cardiac dysfunction and by the choice of the method and the opportune moment of the birth and, not lastly, by the psychological preparation of the future parents. In the case of vascular malformations, respectively vascular aneurysms, the postnatal cardiac decompensation is imminent, and the prenatal diagnosis offers the advantage of preparing the appropriate multidisciplinary management. [ABSTRACT FROM AUTHOR]

Introduction. Fetal aortic coarctation still represents a challenge even for the best sonographers, especially in the early forms of appearence. Case presentation. A secundipara, with a previous healthy child, presents for the first assesement with a 32-week pregnancy. The ecography showed: IUGR of minus 3 weeks, a significant discrepancy between the right and left ventricule, fibroelastosis of the wall in right ventricule, and a suspicion of aortic coarctation. The aortic isthmal diameter was measured immediately proximal to the insertion of the arterial duct in the transverse (three vessel and trachea) and sagittal view, and the ductal diameter was measured immediately before it entered the descending aorta in the same view. Conclusions. The Z-scores for the fetal aortic isthmus and arterial duct are measured in the three vessels and trachea view and for the isthmus in the sagittal plane. In suspected coarctation, these Z-scores and the isthmal to ductal ratio may help in longitudinal assessment of the aortic arch and help at the prenatal diagnosis of coarctation. [ABSTRACT FROM AUTHOR]

With the development of ultrasonography, many placental lesions have become detectable since the first trimester of pregnancy. Some of the most common placental lesions diagnosed by ultrasound are hypoechoic images, causing controversy over differential diagnosis and possible damage to the fetus. Placental lakes are anechoic lesions with a diameter ≥1 cm surrounded by placental tissue with normal echogenicity, being frequently diagnosed in the second trimester of pregnancy. Their incidence varies between 2.2% and 17.8%, usually without impact on fetal development. Subchorionic cysts are anechoic lesions, without Doppler signal, that can be detected from the first trimester. Their content differs from amniotic fluid and histologically there are detected perivillous fibrin desposits and X cells. The association with intrauterine growth restriction (IUGR) assumes: cyst count >3, diameter >4.5 cm or their location near the placental cord insertion site (PCIS). Echogenic cystic lesions (ECL) are hypoechoic lesions ≥1 cm in diameter, characterized by an echogenic crown and an irregular border. They may be correlated with IUGR and preeclampsia, histologically identifying predominantly as inter-villous thrombi. Other possible differential diagnoses should be considered: chorioangiomas, hydatiform moles, placenta accreta, and "vanishing twin". In conclusion, a wide range of placental lesions can be detected by ultrasound, with a variable echo over the development of the fetus. The antenatal diagnosis of these entities is of particular importance. [ABSTRACT FROM AUTHOR]

Objective. Prenatal testing holds a central role in pregnancy evaluation and monitoring. It unites different investigation methods to determine the best possible outcome and management of a case. This paper emphasises the importance of prenatal testing by presenting a case with multiple congenital anomalies. Method. We report a case diagnosed antenatally in the Imagistic Department of Obstetrics and Gynecology, ENDOGYN AM, and confirmed together with the University Prenatal Diagnosis Unit team. We used an extended fetal morphologic protocol. We correlated the antenatal data with the anatomopathological examination. Genetic tests were performed due to the possibility of genetic abnormalities. Results. The outcome of our case was unfavourable, due to the presence of multiple anomalies at the detailed morphological assessment. No genetic abnormality was found. The anatomopathological examination confirmed the antenatal fetal findings. Conclusions. Prenatal testing represents the most important pylon in pregnancy evaluation. Multiple tests should be performed for a correct case management. [ABSTRACT FROM AUTHOR]

Introduction. Multiplex Ligation-dependent Probe Amplification (MLPA) and Quantitative Fluorescent- Polymerase Chain Reaction (QF-PCR) techniques were reported to be efficient without conventional karyotyping for prenatal diagnosis of aneuploidies. However, there are a lot of situations where QF-PCR and MLPA techniques may miss out some genetic abnormities. For example, the mosaicism is an interesting situation. In order to evaluate and to compare the level of chromosomal mosaicism detection by QF-PCR and MLPA techniques in prenatal diagnosis of fetal aneuploidies, we conducted the present experimental study. Materials and method. The DNA of a 17-month-old fetus diagnosed with complete trisomy 21 was used for MLPA analysis. The DNA with complete trisomy 21 was diluted with a DNA without aneuploidies (the control DNA). For QF-PCR we included one probe, confirmed by conventional karyotyping, with trisomy 21 (with a translocation) in 50% of the cells. In this respect, SALSA MLPA P095 Aneuploidy and Elucigene QST*R Plusv2 kits were used. Results. The MLPA analysis was able to confirm the diagnosis of trisomy 21 on probes with mosaicism (with 50% of cells with trisomy) and also to suggest the possibility of trisomy in cases with 25% mosaicism. The QF-PCR technique was unable to detect the genetic anomaly of the probe used. Each technique, including the conventional karyotyping, has several advantages, disadvantages and challenges that will be discussed, including the costs of each analysis. Conclusions. Based on our results, MLPA analysis seems to be more efficient on mosaicism detection. The QF-PCR had the advantage of DNA contamination detection which also is very important on prenatal diagnosis. [ABSTRACT FROM AUTHOR]

Introduction. Placenta percreta is the rarest form of placenta accreta, which can be associated with extremely severe complications such as massive bleeding, dialysis intravascular coagulation and even patient's death. Materials and method. We present the case of a 30-year-old patient who was admitted to our clinic for metrorrhagia started about two months before. The patient stated she was diagnosed two months before with an ongoing pregnancy for which she underwent drug treatment. The clinical and paraclinical examination revealed an enlarged uterus as a 14-week pregnancy with predominant development in the isthmus. The uterine cavity was occupied in the lower third part by a heterogeneous acoustic formation of 77/47 mm. For the suspicion of endometritis, the patient was given broad-spectrum antibiotics. At 24 hours, the patient presented with severe vaginal hemorrhage. Hemostasis maneuvers were started, uterin curettage, followed by vaginal tamponade. Inefficient hemostasis followed by rapid degradation of the patient's condition. Subtotal hemostatic hysterectomy was decided and performed. The postoperative evolution was favorable. Results. The macroscopic examination of the operative part revealed the placenta percreta with necrosis of the uterine wall. Conclusions. There is a correlation between the incidence of placenta percreta and the incidence of births by caesarean section. The antenatal diagnosis of percutaneous placenta by Doppler ultrasonography is extremely important in preventing complications. [ABSTRACT FROM AUTHOR]

The umbilical cord and placenta may be the site of tumor development, sometimes jeopardizing the physiological development of the fetus. The umbilical cord becomes detectable on ultrasound from 7-9 weeks of gestation, initially as a thickened and straight structure, which increases in length and acquires a spiral shape. Umbilical cord cysts are rare abnormalities detected incidentally during routine ultrasounds. These can be classified as true cysts or pseudocysts, the final diagnosis being represented by the histopathological examination, which describes an epithelial layer in the case of true cysts. Pseudocysts are more frequently associated with trisomy 18 and 13, the risk of malformations being higher if the lesion is multiple, persists after 12 weeks of amenorrhea if the localization is paraxial; at the fetal or placental insertion of the cord. The placenta may also present various tumors. Subchorionic cysts have a 5-7% incidence, arising on the fetal placental face as anechoic images without Doppler signal. It is considered that their localization near the placental cord insertion site (PCIS) can result in intrauterine growth restriction. Other placental tumors include echogenic cystic lesions, placental lakes, chorioangiomas, hydatiform moles. The antenatal diagnosis should include investigations aimed at detecting the possible association with chromosomal abnormalities. Thus, we present the case of a 29-yearold primiparous, which, at 12 weeks of amenorrhea, it was detected a 2.5-cm diameter cyst located near the PCIS, increasing in dimensions up to 5 cm diameter at 16 weeks of amenorrhea, then having a steady evolution. The fetal development has not been affected, the histopathological examination describing the lesion as a subchorionic cyst. [ABSTRACT FROM AUTHOR]