简介：AbstractOver the past 50 years, the scope and extent of prenatal diagnosis and screening for genetic disorders have improved geometrically. There has been a pendulum like swing from testing to screening back and forth as new technologies emerge. The concurrent developments of cell free fetal DNA analysis of maternal blood has dramatically changed patient’s choices towards screening. However, with the use of array comparative genomic hybridization of fetal DNA that requires diagnostic procedures (Chorionic villus sampling and amniocentesis), much more extensive diagnosis can be obtained. Until noninvasive methods can replicate what can be done with diagnostic procedures there still will be a "price to be paid" for opting for the non-invasive methods.

简介：无

简介：

简介：

简介：AbstractHarlequin ichthyosis is a severe autosomal recessive skin disorder. Most deaths occur within the first few days after birth, and the survivors still have severe chronic skin disease throughout their lives. Almost all cases were associated with a pathogenic variant of adenosine triphosphate binding cassette transporter, subfamily A, member 12 (ABCA12) gene. We described a case of HI diagnosed by ultrasound examination during the second-trimester and genetic diagnosis reveal two novel heterozygous ABCA12 mutations c.2563-2570delinsGGCAATT, p.(Leu855Glyfs*13), and c.6116delT, p.(Met2039Argfs*8) by the next-generation DNA sequencing, which further enriched our understanding of the pathogenic variation of ABCA12 gene.

简介：

简介：

简介：careabout意为“关心；挂念；忧虑”。【经典例句】

简介：

简介：AbstractFamily integrated care (FICare) is a collaborative model of neonatal care which aims to address the negative impacts of the neonatal intensive care unit (NICU) environment by involving parents as equal partners, minimizing separation, and supporting parent-infant closeness. FICare incorporates psychological, educational, communication, and environmental strategies to support parents to cope with the NICU environment and to prepare them to be able to emotionally, cognitively, and physically care for their infant. FICare has been associated with improved infant feeding, growth, and parent wellbeing and self-efficacy; important mediators for long-term improved infant neurodevelopmental and behavioural outcomes. FICare implementation requires multi-disciplinary commitment, staff motivation, and sufficient time for preparation and readiness for change as professionals relinquish power and control to instead develop collaborative partnerships with parents. Successful FICare implementation and culture change have been applied by neonatal teams internationally, using practical approaches suited to their local environments. Strategies such as parent and staff meetings and relational communication help to break down barriers to change by providing space for the co-creation of knowledge, the negotiation of caregiving roles and the development of trusting relationships. The COVID-19 pandemic highlighted the vulnerability within programs supporting parental presence in neonatal units and the profound impacts of parent-infant separation. New technologies and digital innovations can help to mitigate these challenges, and support renewed efforts to embed FICare philosophy and practice in neonatal care during the COVID-19 recovery and beyond.

简介：

简介：AbstractObjective:This study was to supply information of the Duchenne muscular dystrophy (DMD) mutational spectrum in 303 Chinese families and further offer 5-year clinical experience of DMD/Becker muscular dystrophy genetic counseling and prenatal diagnosis.Methods:In this retrospective cohort study, three hundred and five pregnancies in 303 pregnant women who has a birth history of DMD/Becker muscular dystrophy patients underwent prenatal diagnosis using multiplex ligation-dependent probe amplification followed by Sanger sequencing between January 2014 and December 2018 at Peking Union Medical College Hospital. The mean age of pregnant women was (33.0 ± 4.1) years old. Karyotype analysis was performed to exclude fetal abnormal karyotype.Results:The detection rate of DMD gene mutation in 303 probands was (296/303) 97.7% with seven families having a negative genetic diagnosis. The mutational spectrum comprised of large arrangements in 288/303 (95.0%) and small mutations in 8/303 (2.6%). Carrier testing was performed among 204 pregnant women among whom, 108 mothers had the same mutation as family proband. Of the 305 pregnancies underwent prenatal diagnosis, 55 of 173 male fetuses were affected. We also performed karyotype analysis and found three abnormal karyotypes of trisomy 21. We even found a fetus with DMD gene mutation and trisomy 21 in a same fetus by further analysis. We also identified two times of germline mosaicism.Conclusion:This study demonstrated the distribution and mutation profile of 303 probands and 305 fetuses. Furthermore, considering the possbility of maternl germilne mosaicism, prenatal diagnosis should be suggested to mothers with a proband whether they carry the causative mutation in their blood or not.

简介：AbstractTwin reversed arterial perfusion sequence, a severe and unique complication of monochorionic multiple pregnancy, is characterized by vascular anastomosis and abnormal or absent cardiac development in the twins. This article reviewed its pathogenesis, prenatal ultrasound diagnosis, and management. The pump twin’s chances for survival can be maximized by proper management. The optimal timing of the interventions remains a debate, although the latest studies encourage early intervention, i.e., in the first trimester. The most preferred approach is to interrupt the vascular supply to the acardius, such as through ultrasound-guided laser coagulation and radiofrequency ablation of the intrafetal vessels.

简介：AbstractTuberous sclerosis complex (TSC) is an autosomal-dominant genetic disorder characterized by the development of hamartomas in the brain, heart, skin, kidney, lung, retina, and so on. One fetus from family 1 had a cardiac rhabdomyoma from 21 weeks and 6 days of gestational age, and developed multiple rhabdomyomas and tubers in the brain at 23 weeks and 5 days. The counter monozygotic twin fetus remained negative throughout the pregnancy according to imaging examination. A nonsense mutation in TSC2 (c.4762C>T, p.Gln1588*) was identified in both twins, but not in the mother. Family 2 was one pair of twin fetuses caused by a microdeletion of exon 30 within TSC2 inherited from their apparently asymptomatic mother with mosaic status. The larger fetus was identified as having the first cardiac rhabdomyoma from 17 weeks and 4 days of gestational age. The smaller fetus developed multiple rhabdomyomas until 25 weeks and 6 days of gestational age. Both families terminated the pregnancy. Here, we provide intrauterine examples of clinical variability among monozygotic twins suffering from TSC.

简介：无

简介：ThisisaphotographItookduringmytriptoSanya.Thatwasmyfirsttripbyair.Ihadbeenlookingforwardtobeingthereforalongtime.

简介：

简介：AFTERatrialopeninguponitscompletionatyear-end,theDunhuangMogaoGrottoesTouristCenterwillopentothepublicnextMay,FanJinshi,directoroftheDunhuangAcademyofChina,toldChinaTodayinaninterviewonApril8.AsamemberoftheNationalCommitteeoftheChinesePeople’sPoliticalConsultativeConference,MsFanhasraisedseveralproposalsontheconservationandutilizationofDunhuang-oasiscityandmainstoponthehistoricalSilkRoad.Buildingatouristcenterwasoneofthem.

简介：无

简介：