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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 -
BMC Pregnancy and Childbirth May 2023Noninvasive prenatal testing (NIPT) is increasingly used in the clinical prenatal screening of twin pregnancies, and its screening performance for chromosomal...
BACKGROUND
Noninvasive prenatal testing (NIPT) is increasingly used in the clinical prenatal screening of twin pregnancies, and its screening performance for chromosomal abnormalities requires further evaluation. For twin pregnancies with indications for prenatal diagnosis, there is a lack of clinical data to assess the prenatal diagnosis rate (PDR). The aim of this study was to evaluate the screening performance of NIPT for foetal chromosomal abnormalities in twin pregnancies and the PDR in the second and third trimesters.
METHODS
Ultrasound scans were carried out for all twin pregnancies between 11 and 13 gestational weeks. For twin pregnancies with nuchal translucency thickness˂3.0 mm and no foetal structural malformations, NIPT was performed after blood sampling, followed by routine ultrasound monitoring. Women with twin pregnancies who underwent NIPT at the prenatal diagnostic centre of Xiangya Hospital from January 2018 to May 2022 were included in the study. Genetic counselling was offered to each pregnant woman when the NIPT result indicated a high risk of abnormalities or abnormal ultrasonographic (USG) findings were detected. We followed up twin pregnancies for NIPT results, USG findings, prenatal diagnosis results and pregnancy outcomes.
RESULTS
In 1754 twin pregnancies, the sensitivity, specificity and positive predictive value of NIPT for trisomy 21 were 100%, 99.9% and 75%, and the corresponding values for sex chromosome aneuploidy (SCA) were 100%, 99.9% and 50%, respectively. For the 14 twin pregnancies for which the NIPT results indicated a high risk of abnormalities, the PDR was 78.6% (11/14). For the 492 twin pregnancies for which the NIPT results indicated a low risk of abnormalities, the rate of USG findings in the second and third trimesters was 39.4% (194/492); of these pregnancies, prenatal diagnosis was recommended for 16.7% (82/492), but it was actually performed in only 8.3% (41/492), and the PDR was 50% (41/82). There was no significant difference in the PDR between the NIPT high-risk and low-risk groups.
CONCLUSIONS
The screening performance of NIPT for SCA in twin pregnancies needs to be further evaluated. When abnormal NIPT results or USG findings are used as the main prenatal diagnostic indicator in the second and third trimesters, the PDR is poor.
Topics: Pregnancy; Female; Humans; Noninvasive Prenatal Testing; Retrospective Studies; Pregnancy, Twin; Trisomy; Prenatal Diagnosis; Chromosome Aberrations; Aneuploidy
PubMed: 37179315
DOI: 10.1186/s12884-023-05642-1 -
Revista Brasileira de Ginecologia E... Dec 2022To describe the clinical results of patients admitted and managed as cases of placenta accreta spectrum (PAS) at a Central American public hospital and the influence...
OBJECTIVE
To describe the clinical results of patients admitted and managed as cases of placenta accreta spectrum (PAS) at a Central American public hospital and the influence of the prenatal diagnosis on the condition.
MATERIALS AND METHODS
A retrospective analysis of PAS patients treated at Hospital Bertha Calderón Roque, in Managua, Nicaragua, between June 2017 and September 2021. The diagnostic criteria used were those of the International Federation of Gynecology and Obstetrics (Fédération Internationale de Gynécologie et d'Obstétrique, FIGO, in French). The population was divided into patients with a prenatal ultrasonographic diagnosis of PAS (group 1) and those whose the diagnosis of PAS was established at the time of the caesarean section (group 2).
RESULTS
During the search, we found 103 cases with a histological and/or clinical diagnosis of PAS; groups 1 and 2 were composed of 51 and 52 patients respectively. Regarding the clinical results of both groups, the patients in group 1 presented a lower frequency of transfusions (56.9% versus 96.1% in group 2), use of a lower number of red blood cell units (RBCUs) among those undergoing transfusions (median: 1; interquartile range: [IQR]: 0-4 versus median: 3; [IQR]: 2-4] in group 2), and lower frequency of 4 or more RBCU transfusions (29.4% versus 46.1% in group 2). Group 1 also exhibited a non-significant trend toward a lower volume of blood loss (1,000 mL [IQR]: 750-2,000 mL versus 1,500 mL [IQR]: 1,200-1,800 mL in group 2), and lower requirement of pelvic packing (1.9% versus 7.7% in group 2).
CONCLUSION
Establishing a prenatal diagnosis of PAS is related to a lower frequency of transfusions. We observed a high frequency of prenatal diagnostic failures of PAS. It is a priority to improve prenatal detection of this disease.
Topics: Pregnancy; Humans; Female; Placenta Accreta; Cesarean Section; Ultrasonography, Prenatal; Retrospective Studies; Prenatal Diagnosis; Placenta
PubMed: 36580936
DOI: 10.1055/s-0042-1758712 -
Prenatal Diagnosis Feb 2023There is a paucity of knowledge regarding the prenatal presentation of Klinefelter syndrome, or 47, XXY. Accurate prenatal counseling is critical and in utero diagnosis... (Review)
Review
OBJECTIVE
There is a paucity of knowledge regarding the prenatal presentation of Klinefelter syndrome, or 47, XXY. Accurate prenatal counseling is critical and in utero diagnosis is currently limited by a poor understanding of the prenatal phenotype of this condition.
METHODS
This is a case series of fetuses with cytogenetically confirmed 47, XXY in the prenatal period or up to age 5 years, with prenatal records available for review from four academic institutions between 2006 and 2019. Ultrasound reports were reviewed in detail to assess for increased nuchal translucency and structural abnormalities. Additionally, we reviewed results of cell-free DNA and serum analyte testing when performed to inform our understanding of the detection of fetal 47, XXY through standard genetic screening tests.
RESULTS
Forty-one cases with confirmed cytogenetic diagnosis of 47, XXY and prenatal records available for review were identified: 37 had a prenatal diagnosis and 4 had a postnatal diagnosis. Nuchal translucency was increased ≥3.0 mm in 23.1% (6/26) of cases with a documented measurement. In 29.2% (7/24) of cases with a second trimester anatomical ultrasound available for review, a fetal abnormality was identified (3 brain anomalies, 1 cardiac abnormality, 1 echogenic bowel, and 2 limb abnormalities). Among those who had cell-free DNA and serum analytes performed, 92.6% (25/27) and 36.3% (4/11) had an abnormal result respectively.
CONCLUSION
This case series expands our knowledge of the prenatal presentation of 47, XXY by identifying first and second trimester fetal sonographic abnormalities. Prenatal identification of this condition enables accurate counseling, focused prenatal management, and early postnatal interventions to ameliorate some of the known complications.
Topics: Pregnancy; Female; Humans; Klinefelter Syndrome; Prenatal Diagnosis; Ultrasonography, Prenatal; Nuchal Translucency Measurement; Phenotype; Cell-Free Nucleic Acids
PubMed: 34874073
DOI: 10.1002/pd.6071 -
Medical Ultrasonography May 2018Open spina bifida, also known as spina bifida aperta is a neural tube defect involving the lack of closure of vertebral arches and associated meninges and/or spinal cord... (Review)
Review
Open spina bifida, also known as spina bifida aperta is a neural tube defect involving the lack of closure of vertebral arches and associated meninges and/or spinal cord abnormalities.Ultrasound examination is the gold standard for the diagnosis of spina bifida aperta. It represents the main imaging tool used to ascertain this diagnosis early in gestation. Three-dimensional ultrasound is necessary to detect the level and the size of the defect. Magnetic resonance imaging (MRI) represents a more sensitive tool, giving specific information of the defect and associated anomalies, playing an important role in ruling out differential diagnosis. Due to the advent of MRI use, it is possible today to achieve in utero treatment of fetuses with this pathology. The aim of the current review is to provide an update of literature regarding the role of ultrasound and MRI in the prenatal diagnosis of spina bifida aperta.
Topics: Female; Humans; Magnetic Resonance Imaging; Pregnancy; Prenatal Diagnosis; Spina Bifida Cystica; Spine; Ultrasonography; Ultrasonography, Prenatal
PubMed: 29730690
DOI: 10.11152/mu-1325 -
How to safeguard competency and training in invasive prenatal diagnosis: 'the elephant in the room'.Ultrasound in Obstetrics & Gynecology :... Jan 2016
Topics: Abortion, Spontaneous; Amniocentesis; Chorionic Villi Sampling; Clinical Competence; DNA; Female; Humans; Obstetrics; Pregnancy; Prenatal Diagnosis; Trisomy
PubMed: 26643796
DOI: 10.1002/uog.15806 -
Tidsskrift For Den Norske Laegeforening... Nov 2013
Topics: Female; Humans; Pregnancy; Prenatal Diagnosis; Sensitivity and Specificity
PubMed: 24287825
DOI: 10.4045/tidsskr.13.1004 -
Disease Markers 2022Copy number variations (CNVs) at the chromosomal 1q21.1 region represent a group of hot-spot recurrent rearrangements in human genome, which have been detected in...
Copy number variations (CNVs) at the chromosomal 1q21.1 region represent a group of hot-spot recurrent rearrangements in human genome, which have been detected in hundreds of patients with variable clinical manifestations. Yet, report of such CNVs in prenatal scenario was relatively scattered. In this study, 17 prenatal cases involving the 1q21.1 microdeletion or duplication were recruited. The clinical survey and imaging examination were performed; and genetic detection with karyotyping and CNV analysis using chromosomal microarray (CMA) or CNVseq were subsequently carried out. These cases were all positive with 1q21.1 CNV, yet presented with exceedingly various clinical and utrasonographic indications. Among them, 12 pregnancies carried 1q21.1 deletions, while the other 5 carried 1q21.1 duplications, all of which were within the previously defined breaking point (BP) regions. According to the verification results, 9 CNVs were , 7 were familial, and the other 1 was not certain. We summarized the clinical information of these cases, and the size and distribution of CNVs, and attempted to analyze the association between these two aspects. The findings in our study may provide important basis for the prenatal diagnosis and genetic counseling on such conditions in the future.
Topics: Pregnancy; Female; Humans; DNA Copy Number Variations; Chromosome Deletion; Prenatal Diagnosis; Abnormalities, Multiple
PubMed: 37284664
DOI: 10.1155/2022/5487452 -
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 -
Archives of Gynecology and Obstetrics Mar 2022
Topics: Amniocentesis; COVID-19; Female; Humans; Pandemics; Pregnancy; Prenatal Diagnosis; SARS-CoV-2
PubMed: 34618213
DOI: 10.1007/s00404-021-06276-4