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1.
BMC Pregnancy Childbirth ; 24(1): 584, 2024 Sep 06.
Artículo en Inglés | MEDLINE | ID: mdl-39242988

RESUMEN

BACKGROUND: Multiple marker screening is offered to pregnant individuals in many jurisdictions to screen for trisomies 21 and 18. On occasion, the result is 'double-positive'-a screening result that is unexpectedly positive for both aneuploidies. Although this occurs rarely, the paucity of available evidence about the outcomes of these pregnancies hinders patient counselling. This study aimed to investigate the association of double-positive results with preterm birth and other adverse perinatal outcomes. METHODS: We conducted a population-based retrospective cohort study of pregnancies with an estimated date of delivery from September 1, 2016, to March 31, 2021, using province-wide perinatal registry data in Ontario, Canada. Pregnancies with double-positive screening results where trisomies 21 and 18 were ruled-out were compared to pregnancies with screen negative results for both aneuploidies. We used modified Poisson regression models with robust variance estimation to examine the association of double positive results with preterm birth and secondary outcomes. RESULTS: From 429 540 pregnancies with multiple marker screening, 863 (0.2%) had a double-positive result; trisomies 21 and 18 were ruled out in 374 pregnancies, 203 of which resulted in a live birth. Among the pregnancies in the double-positive group resulting in a live birth, the risk of preterm birth was increased compared to pregnancies with a screen negative result: adjusted risk ratio (aRR) 2.6 (95%CI 2.0-3.6), adjusted risk difference (aRD) 10.5% (95%CI 5.4-15.7). In a sensitivity analysis excluding all diagnosed chromosomal abnormalities, the risk of preterm birth remained elevated to a similar degree: aRR 2.6 (95%CI 1.9-3.7), aRD 10.0% (95%CI 4.8-15.3). The risk of other adverse perinatal outcomes was also higher, including the risk of chromosomal abnormalities other than trisomies 21 and 18: aRR 81.1 (95%CI 69.4-94.8), aRD 34.0% (95%CI 29.2-38.8). Pregnancies with double-positive results were also less likely to result in a live birth, even when excluding all diagnosed chromosomal abnormalities; and at increased risk of adverse perinatal outcomes for those resulting in a live birth. CONCLUSION: Although rare, double-positive multiple marker screening results are associated with an increased risk of preterm birth and other adverse perinatal outcomes, even when excluding all identified chromosomal abnormalities.


Asunto(s)
Síndrome de Down , Nacimiento Prematuro , Humanos , Femenino , Embarazo , Ontario/epidemiología , Síndrome de Down/diagnóstico , Adulto , Estudios Retrospectivos , Nacimiento Prematuro/epidemiología , Síndrome de la Trisomía 18/diagnóstico , Diagnóstico Prenatal/métodos , Diagnóstico Prenatal/estadística & datos numéricos , Resultado del Embarazo/epidemiología , Recién Nacido , Biomarcadores/sangre , Sistema de Registros
2.
Can J Gastroenterol Hepatol ; 2024: 7696410, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39229363

RESUMEN

Introduction: Hepatitis C virus (HCV) is not currently included in the United Kingdom routine antenatal screening program, but the latest guidelines from the Centers for Disease Control and Prevention, American Association for the Study of Liver Diseases, and Infectious Diseases Society of America recommend HCV screening for all pregnant women during each pregnancy. The aim of this study was to collect qualitative data on the feasibility and acceptability of antenatal HCV screening in pregnant women at the time of routine antenatal screening at 12 weeks, to estimate patient knowledge about HCV and identify the prevalence of HCV infection in antenatal women. Methods: This was a pilot study targeting a single hospital-based antenatal clinic in Birmingham, initially conducted for eight weeks with a further extension of the study period to enhance recruitment to meet the feasibility target of 500 patients. Data collected included demographic and epidemiological details. Pregnant women attending the antenatal unit were given information regarding HCV and antenatal screening for HCV prior to their initial antenatal visit. During the antenatal visit, research nurses provided further information about the study and HCV infection. Consent was obtained for taking part in the study and testing for HCV using blood samples taken at the same time as other routine antenatal screening blood tests. All women who agreed to participate in the study were asked to complete an acceptability and knowledge questionnaire. All women had HCV antibody testing as the primary screening assay. The test result was communicated in writing to the women and their general practitioner. Confirmatory positive antibody tests were followed up with quantitative HCV PCR and genotype analysis. The outcomes of testing were no evidence of HCV infection and evidence of past HCV infection or current HCV infection. Results: Five hundred and forty-nine women were approached in the antenatal clinic; 30 women refused consent while 29 women were excluded from the study (blood tests not performed after consenting, age less than 18 years, and consent form lost). Four hundred and ninety women were included in the study. The median age of the study population was 29 years (range, 18-46). Knowledge about blood-borne viruses was limited; 75% of women had some understanding about antenatal hepatitis B (HBV) and human immunodeficiency virus (HIV) testing. Previous awareness about hepatitis C was reported by 55%. Ninety-one percent of women found the information they were given about hepatitis C helpful. Ninety-six percent of the women included in this study found the counselling they received about HCV useful and felt that the delivery of this information was carried out in an acceptable manner. Once given information about HCV, 99% felt that universal screening for HCV should be implemented. HCV antibody was negative in 489 women. One patient with a positive HCV antibody (prevalence: 0.2%) had a negative HCV PCR. Conclusion: Routine antenatal screening for HCV is not currently recommended in the UK. Our study suggests that antenatal HCV screening would be both feasible and acceptable to most pregnant women attending antenatal clinics. Though the awareness of HCV was low, with appropriate counselling and communication, 99% of pregnant women were in favor of antenatal screening for HCV. Antenatal screening would identify HCV-positive mothers and allow follow-up of their infants so that any infected mothers and infants could be offered effective curative therapy and prevent the progression of liver disease. The inclusion of HCV antenatal screening would complete the blood-borne virus profile and enhance the WHO target to eliminate HCV in the UK.


Asunto(s)
Estudios de Factibilidad , Conocimientos, Actitudes y Práctica en Salud , Hepatitis C , Tamizaje Masivo , Aceptación de la Atención de Salud , Complicaciones Infecciosas del Embarazo , Humanos , Femenino , Embarazo , Proyectos Piloto , Adulto , Complicaciones Infecciosas del Embarazo/diagnóstico , Complicaciones Infecciosas del Embarazo/epidemiología , Hepatitis C/diagnóstico , Hepatitis C/epidemiología , Aceptación de la Atención de Salud/estadística & datos numéricos , Tamizaje Masivo/métodos , Reino Unido/epidemiología , Diagnóstico Prenatal/métodos , Diagnóstico Prenatal/estadística & datos numéricos , Atención Prenatal/métodos , Hepacivirus/aislamiento & purificación , Hepacivirus/genética , Adulto Joven , Prevalencia , Encuestas y Cuestionarios
3.
Ann Med ; 56(1): 2402071, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-39262391

RESUMEN

BACKGROUND: This study aimed to evaluate the efficiency of noninvasive prenatal screening (NIPS) technology in screening for microdeletions in the 7q11.23 region. METHODS: 19,607 pregnant women underwent NIPS in our hospital. Maternal peripheral cell-free foetal DNA (cffDNA) was routinely screened for aneuploidy by cffDNA enrichment and simultaneously analyzed for pathogenic copy number variants (CNVs). The Williams syndrome (WS) 7q11.23 region was targeted in this study. Chromosomal microarray analysis (CMA) was used to verify the screen-positive samples. RESULTS: The mean concentration of cffDNA before and after enrichment increased from 9.44% to 19.32%, with a statistically significant difference. Two out of 19,607 samples tested for CNVs were found to have a heterozygous deletion at the 7q11.23 region, indicating a high risk for WS. CMA results confirmed the 1.5 megabase (Mb) deletions at the 7q11.23 region in amniotic fluid samples. One of the two WS foetuses had a small left ventricle by ultrasound screening, and the other did not have a significant cardiovascular abnormality phenotype. CONCLUSIONS: NIPS screening for Williams syndrome can be achieved by enriching cell-free foetal DNA and improving bioinformatic analysis algorithms.


Asunto(s)
Ácidos Nucleicos Libres de Células , Variaciones en el Número de Copia de ADN , Pruebas Prenatales no Invasivas , Síndrome de Williams , Humanos , Síndrome de Williams/genética , Síndrome de Williams/diagnóstico , Femenino , Embarazo , Pruebas Prenatales no Invasivas/métodos , Pruebas Prenatales no Invasivas/estadística & datos numéricos , Adulto , Ácidos Nucleicos Libres de Células/análisis , Ácidos Nucleicos Libres de Células/genética , Cromosomas Humanos Par 7/genética , Diagnóstico Prenatal/métodos , Deleción Cromosómica
4.
BMC Womens Health ; 24(1): 508, 2024 Sep 12.
Artículo en Inglés | MEDLINE | ID: mdl-39267004

RESUMEN

OBJECTIVE: There is a general assumption that Muslim women refuse Down syndrome screening, and therefore, many health practitioners do not offer it or briefly discuss it with their participants. This study aims to objectively assess women's awareness, knowledge, and attitudes toward Down Syndrome screening (D.S.S) in a Muslim-majority population. METHODS: We conducted a cross-sectional study among attendees of antenatal clinics at a major university hospital in Saudi Arabia, aiming for a sample size of at least 385 Muslim women. A semi-structured questionnaire assessed awareness of different D.S.S. options and the source of that information (2 items), specific knowledge of D.S.S. (14 items), and attitudes (4 items). The knowledge and attitudes scores were calculated using a five-level agreement Likert-type scale. RESULTS: Among 434 participants, with an even distribution among all age groups and a majority of a college degree holder or higher (71%), 178 (41.0%) reported awareness of D.S.S. Factors associated with increased awareness were maternal age above 40 or those under 30, nulliparity, and extended family history of fetal congenital anomalies (P-value = 0.03,0.015, and 0.017, respectively). Recognized tests were ultrasound measurement of nuchal translucency (71.9%) and first-trimester serum screening (58.4%). The sources of knowledge were obstetricians (53.9%), followed by family and friends (27.0%). The overall mean ± SD knowledge score was 53.9 ± 8.7 out of 70, and the mean attitude score was 17.4 ± 2.9 out of 20. Having 1 or 2 children is associated with a higher knowledge score, and most participants who reported awareness of D.S.S. (51.7%) had a favorable attitude toward screening. CONCLUSION: Awareness of D.S.S. among Muslim women is associated with favorable attitudes towards testing, contradicting the general assumption and highlighting the need for systematic education to increase awareness and subsequent testing uptake.


Asunto(s)
Síndrome de Down , Conocimientos, Actitudes y Práctica en Salud , Islamismo , Humanos , Femenino , Síndrome de Down/diagnóstico , Síndrome de Down/psicología , Islamismo/psicología , Adulto , Estudios Transversales , Arabia Saudita , Embarazo , Encuestas y Cuestionarios , Adulto Joven , Diagnóstico Prenatal/psicología , Diagnóstico Prenatal/métodos , Persona de Mediana Edad , Escolaridad , Tamizaje Masivo/psicología , Tamizaje Masivo/estadística & datos numéricos , Tamizaje Masivo/métodos , Adolescente , Aceptación de la Atención de Salud/psicología , Aceptación de la Atención de Salud/estadística & datos numéricos
5.
BMC Pregnancy Childbirth ; 24(1): 591, 2024 Sep 09.
Artículo en Inglés | MEDLINE | ID: mdl-39251974

RESUMEN

BACKGROUND: Currently, whole exome sequencing has been performed as a helpful complement in the prenatal setting in case of fetal anomalies. However, data on its clinical utility remain limited in practice. Herein, we reported our data of fetal exome sequencing in a cohort of 512 trios to evaluate its diagnostic yield. METHODS: In this retrospective cohort study, the couples performing prenatal exome sequencing were enrolled. Fetal phenotype was classified according to ultrasound and magnetic resonance imaging findings. Genetic variants were analyzed based on a phenotype-driven followed by genotype-driven approach in all trios. RESULTS: A total of 97 diagnostic variants in 65 genes were identified in 69 fetuses, with an average detection rate of 13.48%. Skeletal and renal system were the most frequently affected organs referred for whole exome sequencing, with the highest diagnostic rates. Among them, short femur and kidney cyst were the most common phenotype. Fetal growth restriction was the most frequently observed phenotype with a low detection rate (4.3%). Exome sequencing had limited value in isolated increased nuchal translucency and chest anomalies. CONCLUSIONS: This study provides our data on the detection rate of whole exome sequencing in fetal anomalies in a large cohort. It contributes to the expanding of phenotypic and genotypic spectrum.


Asunto(s)
Secuenciación del Exoma , Diagnóstico Prenatal , Humanos , Femenino , Embarazo , Estudios Retrospectivos , China , Adulto , Diagnóstico Prenatal/métodos , Anomalías Congénitas/genética , Anomalías Congénitas/diagnóstico , Fenotipo , Ultrasonografía Prenatal , Masculino , Estudios de Cohortes , Feto/anomalías , Pueblo Asiatico/genética , Imagen por Resonancia Magnética , Pueblos del Este de Asia
6.
Taiwan J Obstet Gynecol ; 63(5): 633-636, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39266143

RESUMEN

Genetic counseling of mosaic and non-mosaic tetrasomy 9p remains difficult because of the possible associated congenital abnormalities, cytogenetic discrepancy in various tissues, true-positive and false-positive diagnosis in non-invasive prenatal testing (NIPT), uniparental disomy (UPD) 9, tissue-limited mosaicism, perinatal progressive decrease of the aneuploid cell line, phenotypic normal carriers and possible favorable fetal outcome in the cases with mosaic tetrasomy 9p at amniocentesis. This article presents a comprehensive review of various counseling issues concerning mosaic and non-mosaic tetrasomy 9p at prenatal diagnosis, and the information provided is very useful for genetic counseling under such circumstances.


Asunto(s)
Amniocentesis , Aneuploidia , Cromosomas Humanos Par 9 , Asesoramiento Genético , Mosaicismo , Humanos , Mosaicismo/embriología , Embarazo , Femenino , Cromosomas Humanos Par 9/genética , Diagnóstico Prenatal/métodos , Disomía Uniparental/diagnóstico , Disomía Uniparental/genética , Trastornos de los Cromosomas/diagnóstico , Trastornos de los Cromosomas/embriología , Trastornos de los Cromosomas/genética , Pruebas Prenatales no Invasivas/métodos
7.
Taiwan J Obstet Gynecol ; 63(5): 717-721, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39266153

RESUMEN

OBJECTIVE: To determine the incidence and present our experience with prenatal diagnosis and postnatal outcome of dacryocystocele. MATERIAL AND METHODS: All cases of congenital dacryocystocele diagnosed in our center between 2020 and 2022 were identified in our database to establish the incidence of these defects. The medical records were then reviewed for gestational age, gender, size, and side of dacryocystocele and postnatal outcome. RESULTS: A total of 26 cases with dacryocystoceles were found at a mean gestation age of 30 weeks (range, 29-33 weeks). The overall incidence was 1.35%, there was an obvious female predominance (73%), 69% of cases were unilateral and 31% were bilateral. There were no serious associated anomalies. The postnatal outcome was obtained in 88% of cases (23/26), in 39% (9 out of 23) cases the dacryocystocele was confirmed postnatally, and in 7 (77%) of these it was complicated by dacryocystitis. The spontaneous resolution was more likely in the right-sided lesions, and this was statistically significant. The treatment in cases with dacryocystitis involved massage and local antibiotics and was successful in 71% of cases. 2 cases (29%) suffer from recurrent dacryocystitis and are followed up with recurrent probing and local antibiotics. No breathing difficulties were described postnatally in our study group. CONCLUSION: The overall prenatal incidence of dacryocystocele was 1.35%. The outcome is favorable, 61% of dacryocystoceles in our study resolved spontaneously and in no case postnatal breathing complications were reported. Dacryocystitis was common in persisting cases but was usually treated successfully by massage and antibiotics. The right-sided dacryocystoceles are more likely to resolve spontaneously than left-sided, and this was the only significant factor predicting persistence.


Asunto(s)
Edad Gestacional , Humanos , Femenino , Embarazo , Masculino , Recién Nacido , Incidencia , Ultrasonografía Prenatal , Estudios Retrospectivos , Dacriocistitis/diagnóstico , Dacriocistitis/epidemiología , Dacriocistitis/congénito , Adulto , Diagnóstico Prenatal/métodos , Obstrucción del Conducto Lagrimal/congénito , Obstrucción del Conducto Lagrimal/diagnóstico , Taiwán/epidemiología
8.
Taiwan J Obstet Gynecol ; 63(5): 764-767, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39266162

RESUMEN

OBJECTIVE: To help determine the pathogenicity of 4p16.1 microduplications, we reported two asymptomatic families carrying this variation. CASE REPORT: We present the prenatal diagnosis and genetic analysis of two normal families with 4p16.1 microduplications. CONCLUSION: This paper highlights two families with clinically asymptomatic 4p16.1 microduplications that assisted in determining the pathogenicity of this fragment. The findings can be used as a reference for genetic counseling in cases of similar abnormalities encountered during future prenatal diagnosis.


Asunto(s)
Cromosomas Humanos Par 4 , Fenotipo , Humanos , Femenino , Embarazo , Adulto , Cromosomas Humanos Par 4/genética , Duplicación Cromosómica/genética , Pruebas Genéticas/métodos , Asesoramiento Genético , Linaje , Diagnóstico Prenatal/métodos , Ultrasonografía Prenatal
10.
Cell Mol Biol (Noisy-le-grand) ; 70(8): 121-128, 2024 Sep 08.
Artículo en Inglés | MEDLINE | ID: mdl-39262252

RESUMEN

Congenital heart disease (CHD) is one of the most significant birth defects leading to infant mortality worldwide. Circulating microRNAs (miRNAs) are emerging as novel biomarkers for the detection of cardiovascular diseases. In this study, we aimed to investigate the role of maternal serum miRNAs expression as biomarkers in the diagnosis and prediction of children with CHD. High-throughput sequencing of peripheral blood from pregnant women with abnormal and normal fetal hearts identified 1939 differentially expressed miRNAs, the first 11 of which were selected as predictive biomarkers of CHD. The expression of miRNAs in more clinical samples was then quantitatively verified by reverse transcriptase polymerase chain reaction and the correlation between abnormal miRNAs and CHD was analyzed. Two miRNAs (hsa-miR-3195 and hsa-miR-122-5p) were found to be significantly down-regulated in pregnant women with fetal CHD. By further bioinformatics analysis, we predicted that hsa-miR-3195 and hsa-miR-122-5p could induce CHD by influencing biometabolic processes. hsa-miR-3195 and hsa-miR-122-5p may serve as novel non-invasive biomarkers for prenatal detection of fetal CHD.


Asunto(s)
Biomarcadores , Cardiopatías Congénitas , MicroARNs , Humanos , Femenino , MicroARNs/sangre , MicroARNs/genética , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/sangre , Embarazo , Biomarcadores/sangre , Adulto , Diagnóstico Prenatal/métodos , Perfilación de la Expresión Génica/métodos , Biología Computacional/métodos , Secuenciación de Nucleótidos de Alto Rendimiento
11.
Ann Med ; 56(1): 2399317, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-39239799

RESUMEN

OBJECTIVE: Clinical validity of genome sequencing (GS) (>30×) has been preliminarily verified in the post-natal setting. This study is to investigate the potential utility of trio-GS as a prenatal test for diagnosis of central nervous system (CNS) anomalies. METHODS: We performed trio-based GS on a prospective cohort of 17 foetuses with CNS abnormalities. Single nucleotide variation (SNV), small insertion and deletion (Indel), copy number variation (CNV), structural variant (SV), and regions with absence of heterozygosity (AOH) were analyzed and classified according to ACMG guidelines. RESULTS: Trio-GS identified diagnostic findings in 29.4% (5/17) of foetuses, with pathogenic variants found in SON, L1CAM, KMT2D, and ASPM. Corpus callosum (CC) and cavum septum pellucidum (CSP) abnormalities were the most frequent CNS abnormalities (47.1%, 8/17) with a diagnostic yield of 50%. A total of 29.4% (5/17) foetuses had variants of uncertain significance (VUS). Particularly, maternal uniparental disomy 16 and a de novo mosaic 4p12p11 duplication were simultaneously detected in one foetus with abnormal sulcus development. In addition, parentally inherited chromosomal inversions were identified in two foetuses. CONCLUSION: GS demonstrates its feasibility in providing genetic diagnosis for foetal CNS abnormalities and shows the potential to expand the application to foetuses with other ultrasound anomalies in prenatal diagnosis.


Asunto(s)
Variaciones en el Número de Copia de ADN , Diagnóstico Prenatal , Humanos , Femenino , Embarazo , Estudios Prospectivos , Diagnóstico Prenatal/métodos , Secuenciación Completa del Genoma , Adulto , Malformaciones del Sistema Nervioso/genética , Malformaciones del Sistema Nervioso/diagnóstico , Malformaciones del Sistema Nervioso/diagnóstico por imagen , Feto/anomalías , Feto/diagnóstico por imagen , Sistema Nervioso Central/anomalías , Sistema Nervioso Central/diagnóstico por imagen , Sistema Nervioso Central/embriología , Masculino
12.
Psychiatr Genet ; 34(5): 106-110, 2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-39248081

RESUMEN

BACKGROUND: Approximately one person in 1000 is a Robertsonian translocation carrier. Errors in the formation of eggs (or more rarely of sperms) may be the cause of Robertsonian translocation. Most Robertsonian translocation carriers are healthy and have a normal lifespan, but do have an increased risk of offsprings with trisomies and pregnancy loss. The fitness of Robertsonian translocation carriers is reduced, but can provide material for evolution. MATERIALS AND METHODS: We have done prenatal diagnosis and molecular cytogenetic analyses on this homozygous Robertson translocation family. We report a homozygous Robertson translocation family with previously undescribed mosaic Robertsonian fission karyotype. RESULTS: We identified six Robertsonian translocation carriers in this family. Four were heterozygous translocation carriers of 45,XX or XY,der(14;15)(q10;q10), one was a homozygous translocation carrier of a 44,XY,der(14;15)(q10;q10),der(14;15)(q10;q10), and one was a previously undescribed Robertsonian fission carrier of 45,XN,der(14;15)(q10;q10)[42]/46,XN[58] with normal phenotype. CONCLUSION: We reported a previously undescribed mosaic Robertsonian fission karyotype. The homozygosity of Robertsonian translocation for speciation may be a potential mechanism of speciation in humans. In theory, the carriers of homologous Robertsonian translocation cannot produce normal gametes, but Robertson fission made it possible for them to produce normal gametes.


Asunto(s)
Homocigoto , Mosaicismo , Diagnóstico Prenatal , Translocación Genética , Humanos , Femenino , Masculino , Diagnóstico Prenatal/métodos , Embarazo , Cariotipo , Análisis Citogenético/métodos , Adulto , Linaje , Cariotipificación , Cromosomas Humanos Par 14/genética
13.
Curr Opin Pediatr ; 36(5): 547-553, 2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-39254758

RESUMEN

PURPOSE OF REVIEW: Differences of sex development (DSD) are a group of chromosomal, gonadal, and anatomic conditions that are not often diagnosed during pregnancy. Families and clinicians need diagnostic guidance that supports all aspects of the care from the prenatal to postnatal period. RECENT FINDINGS: Noninvasive prenatal screening (NIPS) is obtained by sampling cell-free fetal DNA in the mother's bloodstream in the first trimester. While its primary purpose is to screen for genetic aneuploidies, it is also used to determine the sex of the fetus. When screening ultrasound shows genital anatomy that is discordant with the sex determination by NIPS, a DSD workup is warranted. The use of this relatively new screening tool may result in a higher number of prenatal referrals than in the past. SUMMARY: This review summarizes suggested prenatal counseling, neonatal management, and postnatal workup of the most common DSD diagnoses. All of these diagnoses are rare, but the common features that families face are addressed with particular emphasis on psychosocial support and a measured shared decision-making approach.


Asunto(s)
Trastornos del Desarrollo Sexual , Pruebas Prenatales no Invasivas , Humanos , Femenino , Trastornos del Desarrollo Sexual/diagnóstico , Embarazo , Recién Nacido , Pruebas Prenatales no Invasivas/métodos , Ultrasonografía Prenatal , Masculino , Análisis para Determinación del Sexo/métodos , Atención Posnatal/métodos , Asesoramiento Genético , Guías de Práctica Clínica como Asunto , Diagnóstico Prenatal/métodos
14.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 41(9): 1032-1038, 2024 Sep 10.
Artículo en Chino | MEDLINE | ID: mdl-39217479

RESUMEN

Placental diseases may affect the outcome of pregnancy and long-term health of the mother and fetus. Fetal fraction is a key indicator for the success of non-invasive prenatal testing, and has been associated with gestational age, body mass index and fetal chromosomal aneuploidies. Many studies have found that fetal fraction is also related to placenta-derived diseases and may become a new predictor for such diseases. This article has summarized the association between the two, with an aim to provide new ideas for the prediction of placental diseases.


Asunto(s)
Enfermedades Placentarias , Diagnóstico Prenatal , Humanos , Embarazo , Femenino , Enfermedades Placentarias/genética , Enfermedades Placentarias/diagnóstico , Diagnóstico Prenatal/métodos , Feto , Aneuploidia , Placenta/metabolismo , Edad Gestacional
15.
J Cardiothorac Surg ; 19(1): 502, 2024 Aug 28.
Artículo en Inglés | MEDLINE | ID: mdl-39198908

RESUMEN

OBJECTIVE: To investigate the value of magnetic resonance examination technique for prenatal genetic diagnosis and clinical intrauterine treatment of fetal congenital cystic adenoma (CCAM) of the lung. METHODS: A retrospective analysis was conducted on 108 pregnant women admitted to a certain hospital from January 2016 to January 2022 for pre natal examination and consultation on eugenics. The selected pregnant women were aged 20-40 and had a gestational age of 17-36 weeks. Ultrasound and MRI examinations were performed on 108 pregnant women who met the inclusion criteria. Follow-up and investigation were conducted on the fetus after being diagnosed with CCAM. To analyze the results of prenatal genetic diagnosis, chromosome microarray analysis (CMA) was used to analyze samples with pathogenic Copy Number Variants (CNV) and identify pathogenic genes. Finally, the imaging diagnosis results obtained through statistical software were analyzed, and the correlation between pathogenic genes and CCAM, as well as the clinical application value of MRI in fetal intrauterine treatment was explored. RESULTS: Among all cases, 68 fetuses were diagnosed with CCAM through ultrasound examination; 71 fetuses were diagnosed with CCAM through MRI examination. A total of 74 samples were confirmed as CCAM by autopsy and neonatal CT. The sensitivity, specificity, and accuracy of MRI in diagnosing fetal congenital CCAM were higher than those of ultrasound examination. The expression of CCAM was positively correlated with DUSP22, PRSS1, and SHOX, with all R values greater than 0.8. The clinical decision curve showed that when the probability of fetal CCAM was less than 0.03, the prenatal genetic diagnostic model of MRI was not applicable; But when the probability of fetal CCAM was higher than 0.05, the auxiliary intrauterine treatment effect that MRI diagnostic methods achieved was significantly better than conventional diagnosis. CONCLUSION: MRI is significantly better than ultrasound in the diagnosis of CCAM, which can effectively improve the sensitivity of diagnosis and provide accurate information for the eugenics of pregnant women, and has high clinical application value.


Asunto(s)
Malformación Adenomatoide Quística Congénita del Pulmón , Imagen por Resonancia Magnética , Diagnóstico Prenatal , Humanos , Femenino , Embarazo , Estudios Retrospectivos , Adulto , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico por imagen , Malformación Adenomatoide Quística Congénita del Pulmón/genética , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico , Malformación Adenomatoide Quística Congénita del Pulmón/cirugía , Diagnóstico Prenatal/métodos , Edad Gestacional , Ultrasonografía Prenatal/métodos , Adulto Joven , Pruebas Genéticas/métodos , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/diagnóstico
16.
J Int Med Res ; 52(8): 3000605241271837, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39175233

RESUMEN

Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Unbalanced chromosome abnormalities are either gains or losses of large genomic regions that do not or only minimally clinically affect the individual. Noninvasive prenatal testing (NIPT) is widely used in the screening of common fetal chromosome aneuploidy. One example is the duplication of 10q11.21q11.23, which includes the 10q11.2 region. This region contains a complex set of low-copy repeats that may lead to various genomic alterations through non-allelic homologous recombination. In this report, we present a case of a de novo 10q11.21q11.23 duplication with a normal phenotype. This case may be helpful for prenatal diagnosis and genetic counseling. A combination of NIPT, prenatal ultrasound, karyotype analysis, copy number variation sequencing, and genetic counseling is helpful for the prenatal diagnosis of CNVs.


Asunto(s)
Duplicación Cromosómica , Variaciones en el Número de Copia de ADN , Asesoramiento Genético , Fenotipo , Diagnóstico Prenatal , Humanos , Femenino , Embarazo , Diagnóstico Prenatal/métodos , Adulto , Duplicación Cromosómica/genética , Cromosomas Humanos Par 10/genética , Cariotipificación , Ultrasonografía Prenatal , Pruebas Prenatales no Invasivas/métodos
17.
Birth Defects Res ; 116(8): e2388, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39118354

RESUMEN

BACKGROUND: Lack of data on the burden and scope of congenital disorders (CDs) in South Africa undermines resource allocation and limits the ability to detect signals from potentially teratogenic pregnancy exposures. METHODS: We used routine electronic data in the Western Cape Pregnancy Exposure Registry (PER) to determine the overall and individual prevalence of CD identified on neonatal surface examination at birth in the Western Cape, South Africa, 2016-2022. CD was confirmed by record review. The contribution of late (≤24 months) and antenatal diagnoses was assessed. We compared demographic and obstetric characteristics between women with/without pregnancies affected by CD. RESULTS: Women with a viable pregnancy (>22 weeks gestation; birth weight ≥ 500 g) (n = 32,494) were included. Of 1106 potential CD identified, 56.1% were confirmed on folder review. When internal and minor CD were excluded the prevalence of major CD identified on surface examination at birth was 7.2/1000 births. When missed/late diagnoses on examination (16.8%) and ultrasound (6.8%) were included, the prevalence was 9.2/1000 births: 8.9/1000 livebirths and 21.5/1000 stillbirths. The PER did not detect 21.5% of major CD visible at birth. Older maternal age and diabetes mellitus were associated with an increased prevalence of CD. Women living with/without HIV (or the timing of antiretroviral therapy, before/after conception), hypertension or obesity did not significantly affect prevalence of CD. CONCLUSIONS: A surveillance system based on routine data successfully determined the prevalence of major CD identified on surface examination at birth at rates slightly higher than in equivalent studies. Overall rates, modeled at ~2%, are likely underestimated. Strengthening routine neonatal examination and clinical record-keeping could improve CD ascertainment.


Asunto(s)
Anomalías Congénitas , Humanos , Sudáfrica/epidemiología , Femenino , Embarazo , Prevalencia , Adulto , Recién Nacido , Anomalías Congénitas/epidemiología , Vigilancia de Guardia , Sistema de Registros , Masculino , Diagnóstico Prenatal/métodos
18.
ACS Sens ; 9(8): 4207-4215, 2024 Aug 23.
Artículo en Inglés | MEDLINE | ID: mdl-39088458

RESUMEN

ß-Thalassemia is a prevalent type of severe inherited chronic anemia, primarily identified in developing countries. The identification of single nucleotide polymorphisms (SNPs) plays a vital role in the early diagnosis of genetic diseases. Here, we reported the development of an amplification-free fiber optic nanogold-linked sorbent assay method using a fiber optic particle plasmon resonance (FOPPR) biosensor for rapid and ultrasensitive detection of SNPs. Herein, MutS protein was selected as the biorecognition capture probe and immobilized on the sensing region to capture the target mutant DNA, which was hybridized with a single-base mismatched single-stranded DNA labeled by a gold nanoparticle (AuNP). The AuNP acts as a signaling agent to be detected by the FOPPR biosensor when it is bound on the fiber core surface. The method effectively differentiates mismatched double-stranded DNA by MutS protein from perfectly matched/complementary dsDNA. It exhibits an impressively low detection limit for the detection of SNPs at approximately 10-16 M using low-cost sensor chips and devices. By determination of the ratio of mutant DNA to normal DNA in cell-free genomic DNA from blood samples, this method is promising for diagnosing ß-thalassemia in fetuses without invasive testing techniques.


Asunto(s)
Ácidos Nucleicos Libres de Células , Oro , Nanopartículas del Metal , Polimorfismo de Nucleótido Simple , Talasemia beta , Talasemia beta/diagnóstico , Talasemia beta/genética , Talasemia beta/sangre , Humanos , Oro/química , Nanopartículas del Metal/química , Ácidos Nucleicos Libres de Células/sangre , Diagnóstico Prenatal/métodos , Tecnología de Fibra Óptica , Pruebas Genéticas/métodos , Técnicas Biosensibles/métodos , Embarazo , Femenino , Límite de Detección , Resonancia por Plasmón de Superficie/métodos
19.
Life Sci Alliance ; 7(11)2024 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-39117454

RESUMEN

Structural variants (SVs) of unknown significance are great challenges for prenatal risk assessment, especially when involving dose-sensitive genes such as DMD The pathogenicities of 5'-terminal DMD duplications in the database remain controversial. Four prenatal cases with Xp21.1 duplications were identified by routine prenatal genomic testing, encompassing the 5'-UTR to exons 1-2 in family 1 and family 2, and to exons 1-9 in family 3. The duplication in family 4 was non-contiguous covering the 5'-UTR to exon 1 and exons 3-7. All were traced to unaffected males in the family pedigrees. A new genome-wide approach of optical genome mapping was performed in families 1, 2, and 3 to delineate the breakpoints and orientation of the duplicated fragments. The extra copies were tandemly inserted into the upstream of DMD, preserving the integrity of ORF from the second copy. The pathogenicities were thus reclassified as likely benign. Our data highlight the importance of structural delineation by optical genome mapping in prenatal risk assessment of incidentally identified SVs involving DMD and other similar large dose-sensitive genes.


Asunto(s)
Distrofina , Linaje , Humanos , Femenino , Masculino , Medición de Riesgo/métodos , Embarazo , Distrofina/genética , Diagnóstico Prenatal/métodos , Mapeo Cromosómico/métodos , Cromosomas Humanos X/genética , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/diagnóstico , Duplicación Cromosómica/genética , Exones/genética , Duplicación de Gen/genética , Adulto
20.
Brain Behav Immun ; 122: 1-8, 2024 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-39106938

RESUMEN

OBJECTIVE: Fetal anomalies occur in approximately 3% of pregnancies and receiving the diagnosis may be a potentially traumatic experience for families. The mental health of mothers receiving diagnoses and what predicts resilience or poor mental health is understudied. Emotion regulation is an important, modifiable, transdiagnostic factor of mental health, and may be protective post-diagnosis. Evaluating biomarkers of stress, including IL-6 and Allostatic Load (AL), can also serve as early indicators of risk, indicative of early intervention. This study assessed whether reappraisal, suppression, IL-6, and AL was associated with mental health outcomes and resilience in women after receiving a fetal anomaly diagnosis. METHODS: Pregnant women (N=108) presenting to a fetal concerns clinic for initial consultation completed measures of emotion regulation (i.e., reappraisal and suppression), depression, anxiety, posttraumatic stress symptoms, and resilience between 2019-2022. A blood draw was used to assess IL-6 and create composite allostatic load measure including: IL-6, blood pressure, heart rate, glucose, cortisol, and body mass index. RESULTS: Linear regressions controlling for age, gestational age, and perceived fetal diagnosis severity, demonstrated that IL-6 was negatively associated with resilience and positively associated with depression. Reappraisal was positively associated to resilience and negatively associated with depression, anxiety, and PTSD, whereas state insurance status was positively associated to anxiety and PTS symptoms. Suppression and allostatic load were not significant. CONCLUSIONS: Women experiencing fetal anomaly diagnosis represent an understudied population with unaddressed mental health needs. Reappraisal serves as not only a protective factor, but one that can be enhanced to promote maternal resilience and mental health. Furthermore, elevated IL-6 may be a critical early indicator of potential intervention needs among women who are pregnant, to mitigate negative psychological states and enhance resilience.


Asunto(s)
Ansiedad , Depresión , Regulación Emocional , Inflamación , Interleucina-6 , Salud Mental , Humanos , Femenino , Embarazo , Adulto , Interleucina-6/sangre , Regulación Emocional/fisiología , Resiliencia Psicológica , Alostasis/fisiología , Trastornos por Estrés Postraumático/psicología , Anomalías Congénitas/psicología , Biomarcadores/sangre , Estrés Psicológico , Diagnóstico Prenatal/métodos , Adulto Joven , Feto , Salud Materna
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