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Archivos Argentinos de Pediatria Apr 2020Among congenital malformations, heart defects are the most common type of anomaly, and these are associated with a high perinatal, longterm morbidity and mortality. The... (Review)
Review
Among congenital malformations, heart defects are the most common type of anomaly, and these are associated with a high perinatal, longterm morbidity and mortality. The objective of this update was to review the rate of prenatal detection, screening characteristics throughout the pregnancy, in both the first and second trimesters, indications for advanced echocardiography, and to establish a management algorithm in case of prenatal diagnosis of a congenital heart disease. Potential invasive and non-invasive tests and obstetric follow-up will be discussed here. Finally, the main characteristics of fetal therapy in heart anomalies will be reviewed, both cardiac interventions and intrauterine treatment of arrhythmias.
Topics: Female; Fetal Therapies; Heart Defects, Congenital; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 32199055
DOI: 10.5546/aap.2020.eng.e149 -
Obstetrics and Gynecology Clinics of... Jun 2017The American Congress of Obstetricians and Gynecologists recommends that all pregnant women be offered aneuploidy screening or diagnostic testing. A myriad of screening... (Review)
Review
The American Congress of Obstetricians and Gynecologists recommends that all pregnant women be offered aneuploidy screening or diagnostic testing. A myriad of screening and testing options are available to patients based on their risk profile and gestational age. Screening options include traditional serum analyte screening, such as first-trimester screening or quadruple screening, and more recently, cell-free DNA. Diagnostic testing choices include chorionic villus sampling and amniocentesis. The number of screening and diagnostic modalities complicates prenatal counseling for physicians and can be difficult for patients to grasp. Appropriate pretest and posttest counseling is important to ensure adequate understanding of results and ensure testing strategy is concordant with patient goals.
Topics: Amniocentesis; Aneuploidy; Chorionic Villi Sampling; Counseling; Female; Genetic Testing; Humans; Mass Screening; Pregnancy; Prenatal Diagnosis
PubMed: 28499534
DOI: 10.1016/j.ogc.2017.02.004 -
Archivos Argentinos de Pediatria Jun 2021A seminal study titled Management of Myelomeningocele Study, from 2011, demonstrated that prenatal myelomeningocele defect repaired before 26 weeks of gestation improved... (Review)
Review
A seminal study titled Management of Myelomeningocele Study, from 2011, demonstrated that prenatal myelomeningocele defect repaired before 26 weeks of gestation improved neurological outcomes; based on this study, fetal surgery was introduced as a standard of care alternative. Thus, prenatal myelomeningocele diagnosis within the therapeutic window became a mandatory goal; therefore, research efforts on screening strategies were intensified, especially in the first trimester. In addition, different fetal surgery techniques were developed to improve neurological outcomes and reduce maternal risks. The objective of this review is to provide an update on the advances in prenatal screening and diagnosis during the first and second trimesters, and in open and fetoscopic fetal surgery for myelomeningocele.
Topics: Female; Fetoscopy; Humans; Meningomyelocele; Pregnancy; Prenatal Care; Prenatal Diagnosis
PubMed: 34033426
DOI: 10.5546/aap.2021.eng.e215 -
Obstetrics and Gynecology Clinics of... Mar 2018Prenatal whole exome sequencing (WES) has the potential to increase the ability to provide more diagnostic capabilities in fetuses with sonographic abnormalities, which... (Review)
Review
Prenatal whole exome sequencing (WES) has the potential to increase the ability to provide more diagnostic capabilities in fetuses with sonographic abnormalities, which would then improve the ability to counsel families. It is also often the first step in improving the path toward informed diagnosis and treatment, which is especially important in the era of advancing in utero fetal therapy. This article discusses the current literature regarding prenatal WES, clinical indications for WES, challenges with interpretation/counseling (variants of unknown significance), research priorities, ethical issues, and potential future advances.
Topics: Female; Genetic Counseling; Genetic Diseases, Inborn; Genetic Testing; Humans; Pregnancy; Prenatal Diagnosis; Risk Assessment; Ultrasonography, Prenatal; Exome Sequencing
PubMed: 29428287
DOI: 10.1016/j.ogc.2017.10.003 -
Indian Heart Journal 2018This article reviews important features to improve the diagnosis of congenital heart disease (CHD) by applying ultrasound in prenatal cardiac screening. As low and... (Review)
Review
This article reviews important features to improve the diagnosis of congenital heart disease (CHD) by applying ultrasound in prenatal cardiac screening. As low and high-risk pregnancies for CHD are subject to routine obstetric ultrasound, the diagnosis of structural heart defects represents a challenge that involves a team of specialists and subspecialists on fetal ultrasonography. In this review, the images highlight normal anatomy of the heart as well as pathologic cases consistent with cardiac malposition and isomerism, septal defects, pulmonary stenosis/atresia, aortic malformations, hypoplastic left ventricle, conotruncal anomalies, tricuspid dysplasia, and Ebstein's anomaly, and univentricular heart, among other congenital cardiovascular defects. Anatomical details of most CHD in fetuses were provided by two-dimensional (2D) ultrasound with higher quality imaging, enhancing diagnostic accuracy in a variety of CHD. Moreover, the accuracy of the cardiac defects in obstetrics ultrasound improves the outcome of most CHD, providing planned delivery, aided genetic counseling, and perinatal management.
Topics: Female; Health Knowledge, Attitudes, Practice; Heart Defects, Congenital; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 29455772
DOI: 10.1016/j.ihj.2017.12.005 -
Australian Family Physician Oct 2017Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening...
BACKGROUND
Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening tests for fetal chromosomal abnormalities. For trisomy 21 in particular, NIPT is superior to other screening modalities. However, NIPT has limitations and complexities that requesting clinicians and their patients should understand.
OBJECTIVE
This review article will briefly describe the technical basis of NIPT assays and compare the performance characteristics of NIPT with existing screening tests. The clinical use of NIPT will also be discussed.
DISCUSSION
NIPT is now an established option for antenatal screening for trisomy 21, 18, 13 and other selected chromosomal abnormalities. If used appropriately, it increases the detection rate for fetal chromosomal abnormalities, while decreasing the number of invasive tests required. An understanding of the scientific basis of NIPT, and the appropriate clinical use and limitations, will enable medical practitioners to provide optimal antenatal screening.
Topics: Adult; Cell-Free Nucleic Acids; Down Syndrome; Female; Genetic Testing; Humans; Pregnancy; Prenatal Diagnosis; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 29036772
DOI: No ID Found -
Ultrasound in Obstetrics & Gynecology :... Aug 2020
Topics: Adult; Biometry; Female; Fetal Development; Fetal Growth Retardation; Humans; Infant, Newborn; Infant, Small for Gestational Age; Obstetrics; Pregnancy; Prenatal Diagnosis
PubMed: 32738107
DOI: 10.1002/uog.22134 -
Prenatal Diagnosis Dec 2022Fetal cerebral ventriculomegaly is a relatively common finding, observed during approximately 1% of obstetric ultrasounds. In the second and third trimester, mild... (Review)
Review
Fetal cerebral ventriculomegaly is a relatively common finding, observed during approximately 1% of obstetric ultrasounds. In the second and third trimester, mild (≥10 mm) and severe ventriculomegaly (≥15 mm) are defined according to the measurement of distal lateral ventricles that is included in the routine sonographic examination of central nervous system. A detailed neurosonography and anatomy ultrasound should be performed to detect other associated anomalies in the central nervous system and in other systems, respectively. Fetal MRI might be useful when neurosonography is unavailable or suboptimal. The risk of chromosomal and non-chromosomal genetic disorders associated with ventriculomegaly is high, therefore invasive genetic testing, including microarray, is recommended. Screening for prenatal infections, in particular cytomegalovirus and toxoplasmosis, should also be carried out at diagnosis. The prognosis is determined by the severity of ventriculomegaly and/or by the presence of co-existing abnormalities. Fetal ventriculoamniotic shunting in progressive isolated severe ventriculomegaly is an experimental procedure. After delivery, ventricular-peritoneal shunting or ventriculostomy are the two available options to treat hydrocephalus in specific conditions with similar long-term outcomes. A multidisciplinary fetal neurology team, including perinatologists, geneticists, pediatric neurologists, neuroradiologists and neurosurgeons, can provide parents with the most thorough prenatal counseling. This review outlines the latest evidence on diagnosis and management of pregnancies complicated by fetal cerebral ventriculomegaly.
Topics: Pregnancy; Child; Female; Humans; Prospective Studies; Hydrocephalus; Ultrasonography, Prenatal; Nervous System Malformations; Parents; Cerebral Ventricles; Prenatal Diagnosis
PubMed: 36371614
DOI: 10.1002/pd.6266 -
BMJ Open Jul 2019To assess international trends and patterns of prenatal diagnosis of critical congenital heart defects (CCHDs) and their relation to total and live birth CCHD prevalence...
OBJECTIVES
To assess international trends and patterns of prenatal diagnosis of critical congenital heart defects (CCHDs) and their relation to total and live birth CCHD prevalence and mortality.
SETTING
Fifteen birth defect surveillance programmes that participate in the International Clearinghouse for Birth Defects Surveillance and Research from 12 countries in Europe, North and South America and Asia.
PARTICIPANTS
Live births, stillbirths and elective terminations of pregnancy for fetal anomaly diagnosed with 1 of 12 selected CCHD, ascertained by the 15 programmes for delivery years 2000 to 2014.
RESULTS
18 243 CCHD cases were reported among 8 847 081 births. The median total prevalence was 19.1 per 10 000 births but varied threefold between programmes from 10.1 to 31.0 per 10 000. CCHD were prenatally detected for at least 50% of the cases in one-third of the programmes. However, prenatal detection varied from 13% in Slovak Republic to 87% in some areas in France. Prenatal detection was consistently high for hypoplastic left heart syndrome (64% overall) and was lowest for total anomalous pulmonary venous return (28% overall). Surveillance programmes in countries that do not legally permit terminations of pregnancy tended to have higher live birth prevalence of CCHD. Most programmes showed an increasing trend in prenatally diagnosed CCHD cases.
DISCUSSION AND CONCLUSIONS
Prenatal detection already accounts for 50% or more of CCHD detected in many programmes and is increasing. Local policies and access likely account for the wide variability of reported occurrence and prenatal diagnosis. Detection rates are high especially for CCHD that are more easily diagnosed on a standard obstetric four-chamber ultrasound or for fetuses that have extracardiac anomalies. These ongoing trends in prenatal diagnosis, potentially in combination with newborn pulse oximetry, are likely to modify the epidemiology and clinical outcomes of CCHD in the near future.
Topics: Asia; Europe; Female; Heart Defects, Congenital; Humans; Infant, Newborn; Male; North America; Pregnancy; Prenatal Diagnosis; Prevalence; Retrospective Studies; South America
PubMed: 31270117
DOI: 10.1136/bmjopen-2018-028139 -
Taiwanese Journal of Obstetrics &... Mar 2022To investigate the phenotypes, biochemical features and genotypes for 244 pedigrees with methylmalonic aciduria (MMA) in China, and to perform the prenatal genetic...
OBJECTIVES
To investigate the phenotypes, biochemical features and genotypes for 244 pedigrees with methylmalonic aciduria (MMA) in China, and to perform the prenatal genetic diagnosis by chorionic villus for these pedigrees.
MATERIALS AND METHODS
Gene analyses were performed for 244 pedigrees. There are 130 pedigrees, chorionic villus sampling was performed on the pregnant women to conduct the prenatal diagnosis.
RESULTS
Among 244 patients, 168 (68.9%) cases were combined methylmalonic aciduria and homocystinuria, 76 (31.1%) cases were isolated methylmalonic aciduria. All the patients were diagnosed with MMA by their clinical manifestation, elevated blood propionylcarnitine, propionylcarnitine to acetylcarnitine ratio, and/or urine/blood methylmalonic acid with or without homocysteine. MMACHC, MMUT, SUCLG1 and LMBRD1 gene variants were found in 236 (96.7%) pedigrees included 6 probands with only one heterozygous variant out of 244 cases. For the 130 pedigrees who received a prenatal diagnosis, 22 fetuses were normal, 69 foetuses were carriers of heterozygous variants, and the remaining 39 foetuses harboured compound heterozygous variants or homozygous variants. The follow-up results were consistent with the prenatal diagnosis.
CONCLUSION
The present study indicates genetic heterogeneity in MMA patients. Genetic analysis is a convenient method for prenatal diagnosis that will aid in avoiding the delivery of MMA patients.
Topics: Amino Acid Metabolism, Inborn Errors; China; Female; Genotype; Humans; Nucleocytoplasmic Transport Proteins; Oxidoreductases; Pedigree; Pregnancy; Prenatal Diagnosis
PubMed: 35361390
DOI: 10.1016/j.tjog.2022.02.017