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The short arm of chromosome 16 (16p) is enriched for segmental duplications, making it susceptible to recurrent, reciprocal rearrangements implicated in the etiology of several phenotypes, including intellectual disability, speech disorders, developmental coordination disorder, autism spectrum disorders, attention deficit hyperactivity disorders, obesity and congenital skeletal disorders. In our clinical study 73 patients were analyzed by chromosomal microarray, and results were confirmed by fluorescence in situ hybridization or polymerase chain reaction. All patients underwent detailed clinical evaluation, with special emphasis on behavioral symptoms. 16p rearrangements were identified in 10 individuals. We found six pathogenic deletions and duplications of the recurrent regions within 16p11.2: one patient had a deletion of the distal 16p11.2 region associated with obesity, while four individuals had duplications, and one patient a deletion of the proximal 16p11.2 region. The other four patients carried 16p variations as second-site genomic alterations, acting as possible modifying genetic factors. We present the phenotypic and genotypic results of our patients and discuss our findings in relation to the available literature., (Copyright © 2020 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)

The objective of this study was to evaluate the effectiveness of the measurement of maternal serum alpha-fetoprotein (MSAFP) at 16 weeks and a subsequent routine ultrasound screening at 18-20 weeks' gestation and the impact on the birth prevalence of congenital structural anomalies in an unselected pregnant population of Hungary in a prospective epidemiological study. A total of 63,794 pregnant women (representing one-sixth of the population of Hungary) were offered this screening program over 3 years (1988-90). Of the pregnant population, 75.7% (48,312) received MSAFP screening and in 81.0% (51,675), at least one ultrasound scan was performed. In the screened pregnancies, 496 craniospinal, thoraco-abdominal, urogenital and other severe major anomalies occurred; 317 were detected at 18-20 weeks (sensitivity 63.1%; specificity 100.0%; positive predictive value 100.0%). The sensitivity of ultrasound scanning was significantly higher (p < 0.05) than that of the MSAFP screening. (At the time of ultrasound scanning the MSAFP value was known.) In this study, the less serious anomalies such as hydrocele, hypospadias and undescended testicle were not systematically searched for, but the birth prevalences were calculated. The overall mid-trimester prevalence of severe plus less severe major anomalies was 2.26%. The birth prevalences of severe major anomalies were 0.57 (craniospinal), 4.36 (thoracoabdominal and urogenital) and 1.21 (other severe) per 1000. These values were lower than the mid-trimester prevalences which were 2.94, 5.20 and 2.06 per 1000, respectively. The prevalence values at the age of 1 year were also calculated (0.36, 2.21, 0.54 per 1000, respectively). We conclude that our screening program with availability of termination of pregnancy could significantly (p < 0.05) reduce the prevalence of severe major abnormalities at birth. Training programs in cardiac scanning are required.

The 58 cases of bilateral renal agenesis (Potter syndrome) registered in the Genetic Counselling of our institute in the last 12 years are reviewed. The only recurrent case which has been prenatally diagnosed is described in details. An urinary bladder anomaly like that of the subsequent child has not been reported in such a family previously. The authors analyze the possible inheritance patterns taking into account the previous references, too. They suggest the malformation is a genetically heterogeneous entity. They emphasize that nowadays the birth of a newborn with bilateral renal agenesis can be prevented in all cases.

The authors discuss the diagnostic criteria of iniencephaly based on data from the literature and eleven additional, new cases. The most important differential diagnostic problems involve anencephaly with spinal retroflexion and the Klippel-Feil syndrome. Ultrasound indicated cranio-spinal alterations while amniotic fluid AFP estimation and exfoliative cytology substantiated abnormal closure of the neural tube, thus comprising helpful means for prenatal diagnosis of iniencephaly. The authors emphasize the need for median-sagittal sectioning through the spinal column for accurate evaluation of vertebral abnormalities. This, together with close observation of the occiput and the foramen magnum, helps the precise diagnosis of iniencephaly and once regularly applied will most likely result in more frequent recognition of this developmental abnormality.

Authors present cases of cyclopia, cebocephaly associated with holoprosencephaly, diagnosed prenatally by ultrasound. A detailed description of ultrasound findings is given. When intracranial anatomy appears abnormal, the orbits must be visualized, the interorbital diameter must be measured and facial malformations should be looked for.