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NeoReviews Aug 2020
Topics: Blood Gas Analysis; Cardiotocography; Female; Fetal Blood; Fetal Diseases; Humans; Practice Guidelines as Topic; Pregnancy; Pregnancy Trimester, Third; Prenatal Diagnosis; Uterine Hemorrhage
PubMed: 32737177
DOI: 10.1542/neo.21-8-e580 -
The Journal of Maternal-fetal &... Dec 2023Prenatal ultrasound has been regularly used as the screening tool for agenesis of corpus callosum (ACC) of the fetuses, which were mainly suspected on the basis of... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Prenatal ultrasound has been regularly used as the screening tool for agenesis of corpus callosum (ACC) of the fetuses, which were mainly suspected on the basis of indirect signs rather than the visualization of the CC. However, the diagnostic accuracy of prenatal ultrasound for ACC, compared to the gold standard of postmortem diagnosis or postnatal images, is still unknown. This meta-analysis was performed to comprehensively evaluate the efficacy of prenatal ultrasound for the diagnosis of ACC.
METHODS
Studies evaluating the diagnostic accuracy of prenatal ultrasound for ACC compared to postmortem diagnosis or postnatal images were retrieved by searching PubMed, Embase, and Web of Science databases. Pooled sensitivity and specificity were calculated with a random-effects model. The diagnostic accuracy was measured by summarized area under the receiver operating characteristic (AUC) curve.
RESULTS
Twelve studies involving 544 fetuses with suspected anomalies of central nervous system were included, and 143 of them were with validated diagnosis of ACC. Pooled results showed that prenatal ultrasound has satisfying diagnostic efficacy for ACC, with the pooled sensitivity, specificity, positive and negative likelihood ratios of 0.72 (95% confidence interval [CI]: 0.39-0.91), 0.98 (95% CI: 0.79-1.00), 43.73 (95% CI: 3.42-558.74, and 0.29 (95% CI: 0.11-0.74), respectively. The pooled AUC was 0.94 (95% CI: 0.92-0.96), suggesting good diagnostic performance of prenatal ultrasound. Subgroup analysis according to the prenatal ultrasound procedures showed a better diagnostic efficacy of neurosonography than that of regular ultrasound screening (sensitivity: 0.84 versus 0.57, specificity: 0.98 versus 0.89, and AUC: 0.97 versus 0.78).
CONCLUSIONS
Prenatal ultrasound, particularly for the neurosonography, confers satisfying efficacy for the diagnosis of ACC.
Topics: Pregnancy; Female; Humans; Agenesis of Corpus Callosum; Prenatal Diagnosis; Ultrasonography, Prenatal; Magnetic Resonance Imaging; Ultrasonography
PubMed: 37365011
DOI: 10.1080/14767058.2023.2228454 -
Prenatal Diagnosis Apr 2023Infections by DNA viruses during pregnancy are associated with increased health risks to both mother and fetus. Although not all DNA viruses are related to an increased... (Review)
Review
Infections by DNA viruses during pregnancy are associated with increased health risks to both mother and fetus. Although not all DNA viruses are related to an increased risk of complications during pregnancy, several can directly infect the fetus and/or cause placental dysfunction. During Non-Invasive Prenatal Testing analysis, the presence of viral DNA can be detected, theoretically allowing screening early in pregnancy. Although treatment options are currently limited, this might rapidly change in the near future. It is therefore important to be aware of the potential impact of these viruses on feto-maternal health. In this manuscript we provide a brief introduction into the most commonly detected DNA viruses in human cell-free DNA sequencing experiments and their pathogenic potential during pregnancy.
Topics: Pregnancy; Humans; Female; Placenta; Fetus; DNA Viruses; Prenatal Diagnosis
PubMed: 35170055
DOI: 10.1002/pd.6116 -
Ultrasound in Medicine & Biology Mar 2023Fetal skeletal dysplasias involving limbs and hands are rare congenital malformations. Prenatal two-dimensional ultrasound diagnosis of fetal limb defects has a... (Review)
Review
Fetal skeletal dysplasias involving limbs and hands are rare congenital malformations. Prenatal two-dimensional ultrasound diagnosis of fetal limb defects has a sensitivity of about 30%; however, an increased detection rate may be obtained using three-dimensional (3-D) ultrasound in the rendering mode. 3-D ultrasound may be used as a complementary method providing additional information. Currently, magnetic resonance imaging (MRI), with the emergence of ultrafast imaging techniques and new sequences, allows for better diagnosis of several fetal skeletal dysplasias such as limb reduction defects and neuromuscular disorders. 3-D volumetric images from ultrasound or MRI scan data allow 3-D ultrasound reconstructions of virtual/physical models, and virtual reality can help researchers to improve our understanding of both normal and abnormal fetal limb/hand anatomy. In this article, we review the embryological development of fetal hands and their main anomalies including prenatal diagnostic methods, genetic counseling, the role of orthopedic and plastic surgery reconstruction, and new perspectives in fetal surgery.
Topics: Pregnancy; Female; Humans; Prenatal Diagnosis; Fetus; Magnetic Resonance Imaging; Ultrasonography; Hand; Ultrasonography, Prenatal
PubMed: 36526543
DOI: 10.1016/j.ultrasmedbio.2022.09.022 -
Journal of Perinatology : Official... Sep 2022
Topics: Biomarkers; Female; Hernias, Diaphragmatic, Congenital; Humans; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 35963888
DOI: 10.1038/s41372-022-01485-4 -
Zeitschrift Fur Geburtshilfe Und... Jun 2020To investigate the reasons for decision-making and concerns of patients in the field of prenatal screening, invasive prenatal diagnostic testing (IPDT), and termination...
OBJECTIVE
To investigate the reasons for decision-making and concerns of patients in the field of prenatal screening, invasive prenatal diagnostic testing (IPDT), and termination of pregnancy (TOP).
STUDY DESIGN
This questionnaire-based study consisted of 107 pregnant women who were referred for prenatal screening to the Hacettepe University Hospital. The questionnaire given to patients was prepared from scratch since there is no standard set of questions measuring patients' feelings and concerns regarding prenatal screening/diagnosis, IPDT, and TOP.
RESULTS
Our questionnaire results showed that it is possible to classify decision-making factors into 6 groups: psychological, social, fear, religious/faith, support, and trust. The majority of patients were undecided (48.6%) about IPDT if prenatal screening test results were risky. Only 23.4% of patients were willing to accept IPDT. On the other hand, 55.1% of patients were not willing to undergo TOP if the fetal karyotyping results were abnormal. Religious factors seem to be important in refusing IPDT and TOP.
CONCLUSION
Physicians should re-evaluate their practice in the field of prenatal screening and diagnosis in light of the high refusal rates of IPDT and TOP. Understanding factors influencing women's decision-making processes provides insight for service providers to help women at high risk of having foetal anomalies to make better-informed choices.
Topics: Abortion, Induced; Abortion, Therapeutic; Choice Behavior; Decision Making; Female; Humans; Mass Screening; Pregnancy; Pregnant Women; Prenatal Care; Prenatal Diagnosis
PubMed: 32157675
DOI: 10.1055/a-1076-1039 -
Abdominal Radiology (New York) May 2023Noninvasive prenatal screening (NIPS) tests for fetal chromosomal anomalies through maternal blood sampling. It is becoming widely available and standard of care for... (Review)
Review
Noninvasive prenatal screening (NIPS) tests for fetal chromosomal anomalies through maternal blood sampling. It is becoming widely available and standard of care for pregnant women in many countries. It is performed in the first trimester of pregnancy, usually between 9 and 12 weeks. Fragments of fetal cell-free deoxyribonucleic acid (DNA) floating in maternal plasma are detected and analyzed by this test to assess for chromosomal aberrations. Similarly, maternal tumor-derived cell-free DNA (ctDNA) released from the tumor cells also circulates in the plasma. Hence, the presence of genomic anomalies originating from maternal tumor-derived DNA may be detected on the NIPS-based fetal risk assessment in pregnant patients. Presence of multiple aneuploidies or autosomal monosomies are the most commonly reported NIPS abnormalities detected with occult maternal malignancies. When such results are received, the search for an occult maternal malignancy begins, in which imaging plays a crucial role. The most commonly detected malignancies via NIPS are leukemia, lymphoma, breast and colon cancers. Ultrasound is a reasonable radiation-free modality for imaging during pregnancy, specially when there are localizing symptoms or findings, such as palpable lumps. While there are no consensus guidelines on the imaging evaluation for these patients, when there are no localizing symptoms or clinically palpable findings, whole body MRI is recommended as the radiation-free modality of choice to search for an occult malignancy. Based on clinical symptoms, practice patterns, and available resources, breast ultrasound, chest radiographs, and targeted ultrasound evaluations can also be performed initially or as a follow-up for MRI findings. CT is reserved for exceptional circumstances due to its higher radiation dose. This article intends to increase awareness of this rare but stressful clinical scenario and guide imaging evaluation for occult malignancy detected via NIPS during pregnancy.
Topics: Pregnancy; Humans; Female; Prenatal Diagnosis; Noninvasive Prenatal Testing; Aneuploidy; Neoplasms; DNA
PubMed: 37095202
DOI: 10.1007/s00261-023-03913-1 -
Molecular Genetics & Genomic Medicine Nov 2023Increased nuchal translucency (NT) is associated with an increased risk for genetic disorders. The aim of this study was to investigate the value of whole-exome...
BACKGROUND
Increased nuchal translucency (NT) is associated with an increased risk for genetic disorders. The aim of this study was to investigate the value of whole-exome sequencing (WES) in detecting genetic abnormalities for fetuses with isolated first-trimester increased NT.
METHODS
After the exclusion of aneuploidies and pathogenic copy number variants (CNVs) by quantitative fluorescent polymerase chain reaction (QF-PCR) and chromosomal microarray analysis (CMA), WES was performed on 63 fetuses with isolated first-trimester increased NT (≥3.5 mm).
RESULTS
Overall, WES yielded a 4.8% (3/63) diagnostic rate for fetuses with isolated increased NT. Pathogenic variants were identified in 37.5% (3/8) fetuses that developed additional structural anomalies later in gestation, and no pathogenic variants were detected in increased NT that resolved or remained isolated throughout the pregnancy.
CONCLUSION
This study provides powerful evidence to offer prenatal WES for increased NT only when additional abnormalities are present. Early detailed ultrasound to detect emerging anomalies can help physicians offer prenatal WES to fetuses with a greater likelihood of diagnosis.
Topics: Pregnancy; Female; Humans; Prenatal Diagnosis; Nuchal Translucency Measurement; Exome Sequencing; Fetus; Aneuploidy
PubMed: 37766479
DOI: 10.1002/mgg3.2246 -
PeerJ 2022Karyotyping and genome copy number variation sequencing (CNV-seq) are two techniques frequently used in prenatal diagnosis. This study aimed to explore the diagnostic...
BACKGROUND
Karyotyping and genome copy number variation sequencing (CNV-seq) are two techniques frequently used in prenatal diagnosis. This study aimed to explore the diagnostic potential of using a combination of these two methods in order to provide a more accurate clinical basis for prenatal diagnosis.
METHODS
We selected 822 pregnant women undergoing amniocentesis and separated them into six groups according to different risk indicators. Karyotyping and CNV-seq were performed simultaneously to compare the diagnostic performance of the two methods.
RESULTS
Among the different amniocentesis indicators, abnormal fetal ultrasounds accounted for 39.29% of the total number of examinees and made up the largest group. The abnormal detection rate of non-invasive prenatal testing (NIPT) high risk was 37.93% and significantly higher than the other five groups ( < 0.05). The abnormal detection rate of mixed indicators was significantly higher than the history of the adverse reproductive outcomes group ( = 0.0151). The two methods combined found a total of 119 abnormal cases (14.48%). Karyotyping detected 57 cases (6.93%) of abnormal karyotypes, 30 numerical aberrations, and 27 structural aberrations. CNV-seq identified 99 cases (12.04%) with altered CNVs, 30 cases of chromosome aneuploidies, and 69 structural aberrations (28 pathogenic, eight that were likely pathogenic, and 33 microdeletion/duplication variants of uncertain significance (VUS)). Thirty-seven cases were found abnormal by both methods, 20 cases were detected abnormally by karyotyping (mainly mutual translocation and mostly balanced), and 62 cases of microdeletion/duplication were detected by CNV-seq. Steroid sulfatase gene (STS) deletion was identified at chromosome Xp22.31 in three cases. Postnatal follow-up confirmed that babies manifested skin abnormalities one week after birth. Six fetuses had Xp22.31 duplications ranging from 1.5 Kb to 1.7 Mb that were detected by CNV-seq. Follow-up showed that five babies presented no abnormalities during follow-up, except for one terminated pregnancy due to a history of adverse reproductive outcomes.
CONCLUSION
The combination of using CNV-seq and karyotyping significantly improved the detection rate of fetal pathogenic chromosomal abnormalities. CNV-seq is an effective complement to karyotyping and improves the accuracy of prenatal diagnosis.
Topics: Female; Pregnancy; Humans; DNA Copy Number Variations; Chromosome Disorders; Prenatal Diagnosis; Chromosome Aberrations; Karyotyping
PubMed: 36523456
DOI: 10.7717/peerj.14400 -
International Journal of Legal Medicine Mar 2022Short tandem repeat (STR) loci are commonly used in forensic casework, such as personal identification and paternity testing. In recent years, STR has also been widely...
Short tandem repeat (STR) loci are commonly used in forensic casework, such as personal identification and paternity testing. In recent years, STR has also been widely used for rapid, accurate and automated prenatal diagnosis, known as quantitative fluorescent PCR (QF-PCR). Despite their usefulness, the current systems often lack the power to detect mosaicism for Turner syndrome. In this study, we developed a novel 26-plex system that combined the 22 STRs in chromosome 21/18/13/X, 3 sex loci and 1 quality control marker (TAF9L). The system was generated to achieve greater diagnostic power of trisomy 21/18/13 and sex chromosome abnormalities. Studies of the sensitivity, specificity, stability and accuracy were performed according to the Scientific Working Group on DNA Analysis Methods (SWGDAM) guidelines. Compared with the results of the chromosomal microarray analysis (CMA)/copy number variation sequencing (CNV-seq), the detection ratio of non-mosaic chromosome abnormalities of this system in the identification of chromosome 21/18/13/X/Y aneuploidies reached 100%, and the rate of negative results was consistently 100% based on 203 prenatal diagnosis sample analyses. In addition, our results suggested that this panel was a useful tool for mosaicism for Turner syndrome cases. Interestingly, we found one case with large segment loss of chromosome X, which indicated that we should be alert to this situation when the STR genotype of the parent-child is inconsistent in forensic genetics. In summary, this study demonstrated that our system is an accurate, cost-effective and rapid approach for the detection of chromosome numerical abnormalities in prenatal diagnosis.
Topics: DNA Copy Number Variations; Female; Humans; Microsatellite Repeats; Pregnancy; Prenatal Diagnosis
PubMed: 35102446
DOI: 10.1007/s00414-022-02780-7