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Methods in Molecular Biology (Clifton,... 2019In the nearly 60 years since prenatal diagnosis for genetic disease was first offered, the field of prenatal diagnosis has progressed far past rudimentary uterine... (Review)
Review
In the nearly 60 years since prenatal diagnosis for genetic disease was first offered, the field of prenatal diagnosis has progressed far past rudimentary uterine puncture to provide fetal material to assess gender and interpret risk. Concurrent with the improvements in invasive fetal sampling came technological advances in cytogenetics and molecular biology that widened both the scope of genetic disorders that could be diagnosed and also the resolution at which the human genome could be interrogated. Nowadays, routine blood work available to all pregnant women can determine the risk for common chromosome abnormalities; chorionic villus sampling (CVS) and amniocentesis can be used to diagnose nearly all conditions with a known genetic cause; and the genome and/or exome of a fetus with multiple anomalies can be sequenced in an attempt to determine the underlying etiology. This chapter will discuss some of the major advances in prenatal sampling and prenatal diagnostic laboratory techniques that have occurred over the past six decades.
Topics: Female; History, 20th Century; History, 21st Century; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 30506187
DOI: 10.1007/978-1-4939-8889-1_1 -
Taiwanese Journal of Obstetrics &... Aug 2015Prenatal examination plays an important role in present medical diagnosis. It provides information on fetal health status as well as the diagnosis of fetal treatment... (Review)
Review
Prenatal examination plays an important role in present medical diagnosis. It provides information on fetal health status as well as the diagnosis of fetal treatment feasibility. The diagnosis can provide peace of mind for the perspective mother. Timely pregnancy termination diagnosis can also be determined if required. Amniocentesis and chorionic villus sampling are two widely used invasive prenatal diagnostic procedures. To obtain complete fetal genetic information and avoid endangering the fetus, noninvasive prenatal diagnosis has become the vital goal of prenatal diagnosis. However, the development of a high-efficiency separation technology is required to obtain the scarce fetal cells from maternal circulation. In recent years, the rapid development of microfluidic systems has provided an effective method for fetal cell separation. Advantages such as rapid analysis of small samples, low cost, and various designs, greatly enhance the efficiency and convenience of using microfluidic systems for cell separation. In addition, microfluidic disks can be fully automated for high throughput of rare cell selection from blood samples. Therefore, the development of microfluidic applications in noninvasive prenatal diagnosis is unlimited.
Topics: Adult; Amniocentesis; Chorionic Villi Sampling; DNA; Female; Humans; Maternal Health; Maternal Serum Screening Tests; Pregnancy; Pregnancy Trimester, First; Pregnancy Trimester, Third; Prenatal Diagnosis; RNA, Messenger; Sensitivity and Specificity; Ultrasonography, Prenatal
PubMed: 26384048
DOI: 10.1016/j.tjog.2015.05.002 -
Prenatal Diagnosis Dec 2020
Topics: Editorial Policies; Female; Humans; International Cooperation; Periodicals as Topic; Pregnancy; Prenatal Diagnosis; Societies, Medical
PubMed: 33373073
DOI: 10.1002/pd.5867 -
Journal of Nurse-midwifery 1994The standards for the practice of nurse-midwifery declare competence in prenatal diagnosis as one of the core competencies for basic nurse-midwifery practice.... (Review)
Review
The standards for the practice of nurse-midwifery declare competence in prenatal diagnosis as one of the core competencies for basic nurse-midwifery practice. Encompassing the most frequently encountered situations that involve prenatal diagnostic counselling, this article aims at providing insight to the practicing nurse-midwife into the risks and benefits of invasive prenatal diagnostic procedures and prenatal diagnostic testing, thereby enabling the midwife to counsel the woman and help her to choose an invasive procedure according to her individual needs.
Topics: Congenital Abnormalities; Counseling; Decision Trees; Female; Genetic Diseases, Inborn; Humans; Karyotyping; Nurse Midwives; Patient Education as Topic; Pregnancy; Prenatal Diagnosis; Risk Factors
PubMed: 8035244
DOI: 10.1016/0091-2182(94)90063-9 -
The Journal of Maternal-fetal &... Dec 202315q11.2 microdeletion can lead to syndromes affecting the nervous system. However, 15q11.2 microdeletion has large phenotypic differences and incomplete penetrance,... (Review)
Review Meta-Analysis
OBJECTIVE
15q11.2 microdeletion can lead to syndromes affecting the nervous system. However, 15q11.2 microdeletion has large phenotypic differences and incomplete penetrance, which brings challenges to prenatal diagnosis. We reported 21 cases of 15q11.2 microdeletion fetuses in Eastern China and reviewed literature on the prenatal clinical characteristics related to the deletion variants to provide a basis for prenatal genetic counseling.
METHODS
The clinical data of 21 cases of 15q11.2 microdeletion fetuses collected from June 2018 to September 2021 were retrospectively analyzed, and chromosomal microarray analysis was performed. The reported prenatal clinical features of 15q11.2 microdeletion fetuses were reviewed and summarized. A meta-analysis of 20 studies was performed to test heterogeneity, data integration, and sensitivity on the correlation between 15q11.2 microdeletion and neuropsychiatric diseases.
RESULTS
The median age of the women was 29.5 years. The median gestational age at interventional examination was 24 weeks. All fetuses showed deletion variants of the 15q11.2 fragment, and the median deletion range was approximately 0.48 MB. Ultrasound of five cases showed no abnormalities; however, four of them showed a high risk of Down's syndrome (risk values were 1/184, 1/128, 1/47, and 1/54, respectively). The remaining 16 fetuses showed congenital heart disease (7/16), elevated nuchal translucency (5/16), abnormal brain structure (2/16) and renal disease (2/16). In a literature review of 82 prenatal cases, 44% (36/82) had abnormal ultrasound features, 31% (11/36) showed abnormal nuchal translucency, approximately 28% (10/36) showed abnormal cardiac structure, and 14% (5/36) had brain structural abnormalities. The meta-analysis revealed that the frequency of the 15q11.2 microdeletion mutation in patients with schizophrenia and epilepsy was significantly higher (odds ratio 2.04, 95% confidence interval: 1.78-2.33, < 0.00001; odds ratio 5.23, 95% confidence interval: 2.83-9.67, < 0.00001) than that in normal individuals.
CONCLUSION
More than half of the 15q11.2 microdeletion cases presented no abnormalities in prenatal ultrasound examination. The cases with ultrasound features mainly showed isolated malformations such as elevated nuchal translucency, congenital heart disease, and brain structural abnormalities. Postpartum 15q11.2 microdeletion patients are at an increased risk of suffering from schizophrenia, epilepsy, and other neurological and mental diseases from 15q11.2 microdeletion. Therefore, prenatal diagnosis of 15q11.2 microdeletion not only depends on molecular diagnostic techniques but also requires cautious genetic counseling.
Topics: Adult; Female; Humans; Pregnancy; Fetus; Heart Defects, Congenital; Nuchal Translucency Measurement; Prenatal Diagnosis; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 37770195
DOI: 10.1080/14767058.2023.2262700 -
The New England Journal of Medicine Jan 1993
Review
Topics: Amniocentesis; Chorionic Villi Sampling; Female; Fetal Blood; Fetal Diseases; Fetus; Humans; Pregnancy; Prenatal Diagnosis; Risk Factors; Ultrasonography, Prenatal
PubMed: 8416422
DOI: 10.1056/NEJM199301143280208 -
Journal of Obstetric, Gynecologic, and... Sep 2020To map and summarize the literature related to the prenatal diagnosis of agenesis of the corpus callosum (ACC) to inform nursing practice. (Review)
Review
OBJECTIVE
To map and summarize the literature related to the prenatal diagnosis of agenesis of the corpus callosum (ACC) to inform nursing practice.
DATA SOURCES
We searched MEDLINE, CINAHL, PyscINFO, and Academic Search Complete with the use of strings of curated terms to cover the broad ACC nomenclature. Documents were published in English between 2009 and June 1, 2020. We also hand searched the reference lists of included documents.
STUDY SELECTION
We screened 582 abstracts and retrieved the full texts of primary research articles, reviews, discussion papers, and peer-reviewed book chapters if the abstracts specifically mentioned ACC and the prenatal period. We excluded case reports, conference and poster abstracts, papers on broader anomalies, and animal studies. We reviewed 84 full-text documents and identified 61 for inclusion.
DATA EXTRACTION
We charted the data through an iterative process under headings for location, article type, study design, participant age, ACC type, recruitment, method, tools/assessments, results, key recommendations, gestational age at diagnosis, termination of pregnancy rate, the definition of isolated ACC, and our notes of critique of the document.
DATA SYNTHESIS
We constructed a narrative synthesis from thematically arranged data. In the included documents, ACC was diagnosed between 17 and 38 weeks gestation and was frequently described as heterogeneous because of different causes, presentations, and outcomes. Whether the ACC was isolated as the only anomaly or present with other anomalies was considered the key factor for prenatal counseling. However, the definition of isolated ACC was inconsistent.
CONCLUSION
The inconsistent nomenclature and definitions of an isolated presentation of ACC increase the ambiguity in the prenatal diagnosis and must be considered when the outcome and diagnostic efficacy studies are interpreted. There is an absence of research on parents' experiences of prenatal diagnoses of ACC to inform holistic nursing interventions and the provision of psychosocial support.
Topics: Agenesis of Corpus Callosum; Corpus Callosum; Female; Humans; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 32687791
DOI: 10.1016/j.jogn.2020.06.003 -
Seminars in Perinatology Jun 2012Twin gestations face an increased risk of structural abnormalities compared with singleton gestations, as well as an increased risk of aneuploidy. Accordingly, there is... (Review)
Review
Twin gestations face an increased risk of structural abnormalities compared with singleton gestations, as well as an increased risk of aneuploidy. Accordingly, there is a need for accurate prenatal diagnosis of fetal genetic disorders and structural anomalies in twin gestations. Given the increased risk of congenital anomalies, a detailed sonographic survey of fetal anatomy is recommended in the early second trimester of twin gestations. In addition, fetal echocardiography should be considered in monochorionic twin gestations and in dichorionic twin pregnancies conceived using assisted reproductive technologies given the increased risk of congenital heart disease in these populations. Although first- and second-trimester aneuploidy screening in twin gestations is available, screening is less accurate than in singleton gestations. Invasive prenatal diagnosis in twin pregnancies is associated with a risk of pregnancy loss that is higher than the baseline risk of loss among twin gestations. Precise procedure-related loss rates in twin gestations undergoing chorionic villus sampling or amniocentesis, however, remain unclear because of methodological differences between published studies investigating diagnostic procedures in twins.
Topics: Amniocentesis; Aneuploidy; Chorionic Villi Sampling; Congenital Abnormalities; Echocardiography; Female; Genetic Testing; Humans; Pregnancy; Pregnancy, Twin; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 22713497
DOI: 10.1053/j.semperi.2012.02.008 -
BMJ (Clinical Research Ed.) Nov 1989
Review
Topics: Adult; Amniocentesis; Chorionic Villi Sampling; Female; Humans; Pregnancy; Prenatal Diagnosis; Risk Factors; Ultrasonography
PubMed: 2513056
DOI: 10.1136/bmj.299.6709.1211 -
Seminars in Perinatology Oct 2005The incidence of twins, triplets, and high-order multiples has increased dramatically in the last two decades secondary to greater reliance on fertility treatments and... (Review)
Review
The incidence of twins, triplets, and high-order multiples has increased dramatically in the last two decades secondary to greater reliance on fertility treatments and to delayed childbearing. Offspring of a multiple gestation are at increased risk for both chromosomal and structural abnormalities. Prenatal diagnosis in these patients is challenging. Options for screening tests are limited. Invasive diagnostic procedures are complex. Likewise, physicians and patients may be faced with the dilemma of deciding how to manage discordant results. The following paper will review the unique concerns associated with prenatal diagnosis in a multiple pregnancy and the current methods of prenatal screening in these patients. Invasive prenatal diagnosis will also be explored.
Topics: Adult; Amniocentesis; Aneuploidy; Chorionic Villi Sampling; Female; Humans; Maternal Age; Multiple Birth Offspring; Neural Tube Defects; Nuchal Translucency Measurement; Pregnancy; Pregnancy, Multiple; Prenatal Diagnosis
PubMed: 16360490
DOI: 10.1053/j.semperi.2005.08.005