-
The Lancet. Child & Adolescent Health Jul 2023Congenital heart disease (CHD), a wide spectrum of diseases with varied outcomes, is the most common congenital malformation worldwide. In this Series of three papers,... (Review)
Review
Congenital heart disease (CHD), a wide spectrum of diseases with varied outcomes, is the most common congenital malformation worldwide. In this Series of three papers, we describe the burden of CHD in China; the development of screening, diagnosis, treatment, and follow-up strategies; and challenges associated with the disease. We also propose solutions and recommendations for policies and actions to improve the outcomes of CHD. In the first paper in this Series, we focus on prenatal and neonatal screening, diagnosis, and management of CHD. Based on advanced international knowledge, the Chinese Government has developed a network system comprising prenatal screening, diagnosis of CHD subtypes, specialist consultation appointments, and treatment centres for CHD. A new professional discipline, fetal cardiology, has been formed and rapidly developed. Consequently, the overall coverage of prenatal and neonatal screening and the accuracy of CHD diagnoses have gradually improved, and the neonatal CHD mortality rate has decreased substantially. However, China still faces several challenges in the prevention and treatment of CHD, such as insufficient diagnostic capabilities and unqualified consultation services in some regions and rural areas. TRANSLATION: For the Chinese translation of the abstract see Supplementary Materials section.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Neonatal Screening; Ultrasonography, Prenatal; Heart Defects, Congenital; Prenatal Diagnosis; China
PubMed: 37301215
DOI: 10.1016/S2352-4642(23)00051-2 -
The New England Journal of Medicine Nov 2023
Topics: Female; Humans; Pregnancy; Exome; Genetic Testing; Prenatal Diagnosis; Exome Sequencing; Fetal Diseases; Genetic Diseases, Inborn
PubMed: 37991862
DOI: 10.1056/NEJMc2216144 -
The British Journal of Radiology Jul 2023Bone dysplasias are individually rare but collectively common. The prenatal diagnosis of bone dysplasias, especially perinatally lethal dysplasias, is of major interest... (Review)
Review
Bone dysplasias are individually rare but collectively common. The prenatal diagnosis of bone dysplasias, especially perinatally lethal dysplasias, is of major interest to obstetric services. The current nosology of genetic skeletal disorders addresses over 400 disorders. However, in clinical practice, we encounter only a limited number of disorders, such as . The recent development of non-invasive prenatal genetic testing using cell-free fetal DNA in maternal blood samples has had a major impact on the prenatal diagnosis of genetic diseases. However, imaging examinations remain critical for the final diagnosis of bone dysplasias because molecular testing only shows genetic variants, and not their pathogenicity - most variants are clinically insignificant. Bone dysplasias are typically suspected when limb shortening is identified by screening ultrasound. Further assessment can be followed by more detailed ultrasound, magnetic resonance imaging (MRI), and CT. Based on these data, rational decision-making is feasible, even when the definitive prenatal diagnosis is not feasible. Here, we highlight key images of common bone dysplasias obtained by currently available modalities.
Topics: Pregnancy; Female; Humans; Prenatal Diagnosis; Bone Diseases, Developmental; Ultrasonography; Fetus; Receptor, Fibroblast Growth Factor, Type 3; Ultrasonography, Prenatal
PubMed: 37351952
DOI: 10.1259/bjr.20221025 -
The Urologic Clinics of North America Aug 2023Fetal upper tract urinary system dilation is one of the most common findings on prenatal ultrasonography. Rarely, this may represent fetal lower urinary tract... (Review)
Review
Fetal upper tract urinary system dilation is one of the most common findings on prenatal ultrasonography. Rarely, this may represent fetal lower urinary tract obstruction (LUTO), of which posterior urethral valves are the predominant etiology. LUTO is the most dire fetal urologic diagnosis, as it affects not only the baby's management after birth but sometimes the course of the pregnancy itself. A variety of treatment options are available prenatally; these include observation, vesicoamniotic shunt placement, amnioinfusion, and attempts at direct treatment of the valves themselves. All fetal interventions carry substantial risks; caution should attend every discussion of treatment.
Topics: Infant; Female; Pregnancy; Humans; Prenatal Diagnosis; Ultrasonography, Prenatal; Urethral Diseases; Urology
PubMed: 37385699
DOI: 10.1016/j.ucl.2023.04.006 -
American Journal of Obstetrics and... Sep 2023Emerging studies suggest that whole genome sequencing provides additional diagnostic yield of genomic variants when compared with chromosomal microarray analysis in the...
BACKGROUND
Emerging studies suggest that whole genome sequencing provides additional diagnostic yield of genomic variants when compared with chromosomal microarray analysis in the etiologic diagnosis of infants and children with suspected genetic diseases. However, the application and evaluation of whole genome sequencing in prenatal diagnosis remain limited.
OBJECTIVE
This study aimed to evaluate the accuracy, efficacy, and incremental yield of whole genome sequencing in comparison with chromosomal microarray analysis for routine prenatal diagnosis.
STUDY DESIGN
In this prospective study, a total of 185 unselected singleton fetuses with ultrasound-detected structural anomalies were enrolled. In parallel, each sample was subjected to whole genome sequencing and chromosomal microarray analysis. Aneuploidies and copy number variations were detected and analyzed in a blinded fashion. Single nucleotide variations and insertions and deletions were confirmed by Sanger sequencing, and trinucleotide repeats expansion variants were verified using polymerase chain reaction plus fragment-length analysis.
RESULTS
Overall, genetic diagnoses using whole genome sequencing were obtained for 28 (15.1%) cases. Whole genome sequencing not only detected all these aneuploidies and copy number variations in the 20 (10.8%) diagnosed cases identified by chromosomal microarray analysis, but also detected 1 case with an exonic deletion of COL4A2 and 7 (3.8%) cases with single nucleotide variations or insertions and deletions. In addition, 3 incidental findings were detected including an expansion of the trinucleotide repeat in ATXN3, a splice-sites variant in ATRX, and an ANXA11 missense mutation in a case of trisomy 21.
CONCLUSION
Compared with chromosomal microarray analysis, whole genome sequencing increased the additional detection rate by 5.9% (11/185). Using whole genome sequencing, we detected not only aneuploidies and copy number variations, but also single nucleotide variations and insertions and deletions, trinucleotide repeat expansions, and exonic copy number variations with high accuracy in an acceptable turnaround time (3-4 weeks). Our results suggest that whole genome sequencing has the potential to be a new promising prenatal diagnostic test for fetal structural anomalies.
Topics: Pregnancy; Female; Infant; Child; Humans; Prospective Studies; DNA Copy Number Variations; Ultrasonography, Prenatal; Pregnancy Trimester, First; Prenatal Diagnosis; Aneuploidy; Whole Genome Sequencing; Microarray Analysis; Chromosome Aberrations
PubMed: 36907537
DOI: 10.1016/j.ajog.2023.03.005 -
Genes May 2024In many countries, some form of genetic screening is offered to all or part of the population, either in the form of well-organized screening programs or in a less... (Review)
Review
In many countries, some form of genetic screening is offered to all or part of the population, either in the form of well-organized screening programs or in a less formalized way. Screening can be offered at different phases of life, such as preconception, prenatal, neonatal and later in life. Screening should only be offered if the advantages outweigh the disadvantages. Technical innovations in testing and treatment are driving changes in the field of prenatal and neonatal screening, where many jurisdictions have organized population-based screening programs. As a result, a greater number and wider range of conditions are being added to the programs, which can benefit couples' reproductive autonomy (preconception and prenatal screening) and improve early diagnosis to prevent irreversible health damage in children (neonatal screening) and in adults (cancer and cascade screening). While many developments in screening are technology-driven, citizens may also express a demand for innovation in screening, as was the case with non-invasive prenatal testing. Relatively new emerging issues for genetic screening, especially if testing is performed using DNA sequencing, relate to organization, data storage and interpretation, benefit-harm ratio and distributive justice, information provision and follow-up, all connected to acceptability in current healthcare systems.
Topics: Humans; Genetic Testing; Neonatal Screening; Prenatal Diagnosis; Female; Pregnancy; Infant, Newborn
PubMed: 38790210
DOI: 10.3390/genes15050581 -
Journal of Perinatal Medicine Jul 2023
Topics: Pregnancy; Female; Humans; Stem Cells; Parturition; Prenatal Diagnosis
PubMed: 36958941
DOI: 10.1515/jpm-2022-0583 -
The New England Journal of Medicine Nov 2023
Topics: Female; Humans; Pregnancy; Exome Sequencing; Fetus; Prenatal Diagnosis; Ultrasonography, Prenatal; Fetal Diseases; Genetic Testing
PubMed: 37991863
DOI: 10.1056/NEJMc2307918 -
The New Bioethics : a Multidisciplinary... Sep 2023
Topics: Female; Humans; Pregnancy; Genetic Testing; Prenatal Diagnosis
PubMed: 37542705
DOI: 10.1080/20502877.2023.2240173 -
Clinical Obstetrics and Gynecology Sep 2023
Topics: Female; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 37650666
DOI: 10.1097/GRF.0000000000000792