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BMC Pregnancy and Childbirth Jan 2022The purpose of this study is to evaluate the impact of prenatal screening tests on prenatal diagnosis in Taiwan's 14 years from 2006 to 2019.
BACKGROUND
The purpose of this study is to evaluate the impact of prenatal screening tests on prenatal diagnosis in Taiwan's 14 years from 2006 to 2019.
METHODS
The prenatal screening methods evolved from the second-trimester serum screening to combined first-trimester screening (cFTS) and then followed by the non-invasive cell-free DNA prenatal test (NIPT). The data used by the Department of Statistics, the Ministry of Health and Welfare and Department of Household Registration, Ministry of the Interior public website.
RESULTS
This regional registry-based cohort retrospective study examined a total of 2,775,792 births from January 2006 to December 2019. The proportion of advanced maternal age (AMA) pregnancies increased from 11.63% in 2006 to 30.94% in 2019. Overall, invasive diagnostic testing was used in 87.22% of AMA pregnancies. The prenatal detection rate of trisomy 21 and 18 increased from 74.1% and 83.3% in 2006 to 96.9% and 98.8% in 2019, respectively.
CONCLUSION
During the second-trimester and cFTS periods, the percentage of AMA pregnancies increased every year and the number of invasive procedures also accompany with increased percentage of AMA. However, during the period that NIPT were implemented, the percentage of invasive procedures decreased.
Topics: Cohort Studies; Cytodiagnosis; Down Syndrome; Female; Humans; Maternal Age; Maternal Serum Screening Tests; Noninvasive Prenatal Testing; Pregnancy; Pregnancy Trimesters; Prenatal Diagnosis; Registries; Retrospective Studies; Taiwan; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 35012459
DOI: 10.1186/s12884-021-04360-w -
The Pan African Medical Journal 2022
Topics: Female; Humans; Neural Tube Defects; Pregnancy; Prenatal Diagnosis; Spinal Dysraphism; Ultrasonography, Prenatal
PubMed: 36160275
DOI: 10.11604/pamj.2022.42.146.35644 -
Medicina (Kaunas, Lithuania) Oct 2022Sophisticated screening protocols for genetic abnormalities constitute an important component of current prenatal care, aiming to identify high-risk pregnancies and... (Review)
Review
Sophisticated screening protocols for genetic abnormalities constitute an important component of current prenatal care, aiming to identify high-risk pregnancies and offer appropriate counseling to parents regarding their options. Definite prenatal diagnosis is only possible by invasive prenatal diagnostic testing (IPDT), mainly including amniocentesis and chorionic villous sampling (CVS). The aim of this comparative review was to summarize and compare the existing recommendations on IPDT from the most influential guidelines. All the reviewed guidelines highlight that IPDT is indicated based on a positive screening test rather than maternal age alone. Other indications arise from medical history and sonography, with significant variations identified between the guidelines. The earlier time for amniocentesis is unequivocally set at ≥15 gestational weeks, whereas for CVS, the earlier limit varies from ≥10 to ≥11 weeks. Certain technical aspects and the overall approach demonstrate significant differences. Periprocedural management regarding Rhesus alloimmunization, virologic status and use of anesthesia or antibiotics are either inconsistent or insufficiently addressed. The synthesis of an evidence-based algorithm for IPDT is of crucial importance to healthcare professionals implicated in prenatal care to avoid unnecessary interventions without compromising optimal prenatal care.
Topics: Pregnancy; Humans; Female; Chorionic Villi Sampling; Amniocentesis; Aneuploidy; Prenatal Diagnosis; Maternal Age
PubMed: 36295632
DOI: 10.3390/medicina58101472 -
Medical Ultrasonography Jan 2017To present the systematic ultrasonographic assessment in fetal osteochondrodysplasias and to evaluate the fetal MRI intake, as a complementary exploration to US, in the...
AIM
To present the systematic ultrasonographic assessment in fetal osteochondrodysplasias and to evaluate the fetal MRI intake, as a complementary exploration to US, in the prenatal diagnosis and perinatal prognosis of fetal nonlethal osteochondrodysplasias. Material and methods: In this tertiary multicentre study were included 37 cases diagnosed prenatally with various entities in the category of nonlethal fetal osteochondrodysplasias. The initial diagnosis was carried out by the routine or detailed ultrasound examination. Fetal MRI was accomplished for selected cases.
RESULTS
Nonlethal skeletal dysplasia was suspected and then diagnosed after 17 gestational weeks. The suspicion of osteochondrodysplasia as a reference diagnosis element has required systematic and thorough ultrasound examination. Fetal MRI is a valuable exploration, complementary to prenatal ultrasound bringing in very useful details for the diagnosis of osteochondrodysplasias. The global diagnosis of skeletal dysplasia depends to a great extent on the genetic or biochemical abnormality that causes them.
CONCLUSIONS
US is always the fundamental screening exploration for fetal assessment in nonlethal osteochondrodysplasias. The details brought by the fetal MRI are useful, and the exploration is harmless for the fetus and the mother. Certain diagnosis cannot be accurate and complete without the contribution of genetics, maternal and fetal medicine, obstetrics or radiology.
Topics: Adult; Female; Humans; Magnetic Resonance Imaging; Osteochondrodysplasias; Pregnancy; Prenatal Diagnosis; Reproducibility of Results; Ultrasonography, Prenatal; Young Adult
PubMed: 28180199
DOI: 10.11152/mu-922 -
BMC Pregnancy and Childbirth Jul 2021We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis. (Comparative Study)
Comparative Study
BACKGROUND
We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis.
METHODS
CNV-Seq and cytogenetic karyotyping were performed in parallel for 9452 prenatal samples for comparison of the diagnostic performance of the two methods, and to evaluate the screening performance of maternal age, maternal serum screening, fetal ultrasound scanning and noninvasive prenatal testing (NIPT) for fetal pathogenic copy number variation (CNV).
RESULTS
Among the 9452 prenatal samples, traditional karyotyping detected 704 cases (7.5%) of abnormal cytogenetic karyotypes, 171 (1.8%) chromosome polymorphism, 20 (0.2%) subtle structural variations, 74 (0.7%) mutual translocation (possibly balanced), 52 (0.6%) without karyotyping results, and 8431 (89.2%) normal cytogenetic karyotypes. Among the 8705 cases with normal karyotype, polymorphism, mutual translocation, or marker chromosome, CNV-Seq detected 63 cases (0.7%) of pathogenic chromosome microdeletion/duplication. Retrospectively, noninvasive prenatal testing (NIPT) had high sensitivity and specificity for the screening of fetal pathogenic CNV, and NIPT combining with maternal age, maternal serum screening or fetal ultrasound scanning, which improved the screening performance.
CONCLUSION
The combined application of cytogenetic karyotyping and CNV-Seq significantly improved the detection rate of fetal pathogenic chromosome microdeletion/duplication. NIPT was recommended for the screening of pathogenic chromosome microdeletion/duplication, and NIPT combining with other screening methods further improved the screening performance for pathogenic fetal CNV.
Topics: Adult; Chromosome Disorders; Cytogenetic Analysis; DNA Copy Number Variations; Female; Humans; Karyotyping; Maternal Age; Maternal Serum Screening Tests; Noninvasive Prenatal Testing; Pregnancy; Prenatal Diagnosis; Reproducibility of Results; Retrospective Studies; Sensitivity and Specificity; Sequence Analysis, DNA; Ultrasonography, Prenatal
PubMed: 34238233
DOI: 10.1186/s12884-021-03918-y -
Indian Journal of Public Health 2020Prenatal testing and diagnosis are gaining a strong foothold in a progressively developing country like India, and an estimated boom in the market of noninvasive...
Prenatal testing and diagnosis are gaining a strong foothold in a progressively developing country like India, and an estimated boom in the market of noninvasive prenatal testing is predicted by the year 2024. Having said this, every technique needs an adequate amount of supplementation to increase its worth and that is where genetic counseling proves to be indispensable. Postdiagnosis, the women classified as high-risk individuals likely to give birth to infants inflicted with congenital and structural anomalies are appropriately counseled regarding the clinical aspects of the disease, life expectancy associated with the same, and the consequences associated with the decision to go ahead and conceive the child. Genetic counseling is majorly done for Down syndrome as the other aneuploidies have a highly reduced life expectancy. Although there are a variety of techniques available for testing various chromosomal anomalies, information regarding the appropriate time of the test and emphasis on pre- and posttest counseling is usually not supplied to primary physicians. A considerable amount of confusion dominates the decision of which test should be employed for testing of which anomaly as an array of rather efficient techniques has been identified. Furthermore, there is no nation-wide consensus of the timing and nature of these screening protocols. Moreover, ambiguous guidelines along with an impending lacuna in terms of awareness have led to India being at the backseat of the era that has ushered in tons of technological advancement in this field.
Topics: Aneuploidy; Biomarkers; Female; Genetic Counseling; Genetic Testing; Humans; India; Practice Guidelines as Topic; Pregnancy; Prenatal Diagnosis
PubMed: 32189690
DOI: 10.4103/ijph.IJPH_116_19 -
Journal of Perinatal Medicine Aug 2018Fetal neurology is evolving as an area of great interest in prenatal diagnosis and fetal medicine. The identification and diagnosis of brain damage prenatally has been a... (Review)
Review
Fetal neurology is evolving as an area of great interest in prenatal diagnosis and fetal medicine. The identification and diagnosis of brain damage prenatally has been a great challenge in obstetrics for many years. Investigations of fetal behavior in comparison with morphological studies led to the conclusion that fetal behavioral patterns directly reflect developmental and maturational processes of the fetal central nervous system (CNS). Four-dimensional (4D) ultrasound has greatly improved the assessment of the quality of the fetal spontaneous movements, and enabled a better evaluation of fetal behavior. The assessment of normal neurobehavioral development by 4D ultrasound provided the opportunity to investigate functional characteristics of the fetus that could predict neurological developmental dysfunction. Some studies have already been carried out to evaluate this new methodology in the observation of fetal behavior during different stages of gestation, in an attempt to better understand the relationships between the maturation of the CNS of the fetus and its implications on its behavior pattern. We present a review of literature on fetal behavior by 4D ultrasound.
Topics: Central Nervous System; Female; Fetal Development; Fetal Movement; Fetus; Humans; Imaging, Three-Dimensional; Neurodevelopmental Disorders; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 29306932
DOI: 10.1515/jpm-2016-0414 -
Genes Jan 2021New technologies such as non-invasive prenatal testing (NIPT), capable of analyzing cell-free fetal DNA in the maternal bloodstream, have become increasingly widespread... (Review)
Review
New technologies such as non-invasive prenatal testing (NIPT), capable of analyzing cell-free fetal DNA in the maternal bloodstream, have become increasingly widespread and available, which has in turn led to ethical and policy challenges that need addressing. NIPT is not yet a diagnostic tool, but can still provide information about fetal genetic characteristics (including sex) very early in pregnancy, and there is no denying that it offers valuable opportunities for pregnant women, particularly those at high risk of having a child with severe genetic disorders or seeking an alternative to invasive prenatal testing. Nonetheless, the ethical, legal and social implications (ELSI) include multiple aspects of informed decision-making, which can entail risks for the individual right to procreative autonomy, in addition to the potential threats posed by sex-selective termination of pregnancy (in light of the information about fetal sex within the first trimester), and the stigmatization and discrimination of disabled individuals. After taking such daunting challenges into account and addressing NIPT-related medicolegal complexities, the review's authors highlight the need for an ethically and legally sustainable framework for the implementation of NIPT, which seems poised to become a diagnostic tool, as its scope is likely to broaden in the near future.
Topics: Aneuploidy; Female; Humans; Noninvasive Prenatal Testing; Pregnancy; Prenatal Diagnosis; Reproduction
PubMed: 33573312
DOI: 10.3390/genes12020204 -
Ultrasound in Obstetrics & Gynecology :... May 2016To examine the accuracy of fetal echocardiography in diagnosing congenital heart disease (CHD) at the fetal medicine units of three tertiary care centers.
OBJECTIVE
To examine the accuracy of fetal echocardiography in diagnosing congenital heart disease (CHD) at the fetal medicine units of three tertiary care centers.
METHODS
This was a multicenter cohort study of tertiary echocardiography referrals between 2002 and 2012. Prenatal and postnatal diagnoses were compared and the degree of agreement was classified as 'correct' (anatomy correct and the postnatal diagnosis led to a similar outcome as expected), 'discrepant' (anatomical discrepancies present but the severity and prognosis of the defect were diagnosed correctly) or 'no similarity' (the pre- and postnatal diagnoses differed completely).
RESULTS
We included 708 cases with CHD for which both prenatal and postnatal data were available. The prenatal diagnosis was correct in 82.1% of cases and discrepancies present were present in 9.9%; however, these did not result in a different outcome. In 8.1% there was no similarity between prenatal and postnatal diagnoses. Disagreement between pre- and postnatal diagnoses occurred significantly more frequently in cases that presented with a normal four-chamber view than in those with an abnormal four-chamber view (5.5% vs 1.9%). Incorrect identification of the outflow tracts and incorrect differentiation between unbalanced atrioventricular septal defect and hypoplastic left heart syndrome were relatively commonly encountered. In many cases with disagreement, trisomy 21, extracardiac anomaly or a high maternal body mass index was present.
CONCLUSIONS
The prenatal diagnosis and estimated prognosis of fetal echocardiography in our tertiary referral centers were appropriate in 92% of cases. Some types of CHD remain difficult to diagnose or rule-out prenatally, therefore awareness and education are of considerable importance. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Cohort Studies; Echocardiography; Female; Heart Defects, Congenital; Humans; Pregnancy; Prenatal Diagnosis; Sensitivity and Specificity; Tertiary Care Centers; Ultrasonography, Prenatal
PubMed: 26350159
DOI: 10.1002/uog.15742 -
Annals of the Academy of Medicine,... Feb 2015
Topics: Chromosome Aberrations; Chromosome Disorders; Female; Humans; Practice Patterns, Physicians'; Pregnancy; Prenatal Diagnosis
PubMed: 25797815
DOI: No ID Found