Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities

Kowalczyk, Katarzyna; Bartnik‐Glaska, Magdalena; Smyk, Marta; Plaskota, Izabela; Bernaciak, Joanna; Kędzior, Marta; Wiśniowiecka‐Kowalnik, Barbara; Jakubów-Durska, Krystyna; Braun-Walicka, Natalia; Barczyk, Artur; Geremek, Maciej; Castañeda, Jennifer; Kutkowska-Kaźmierczak, Anna; Własienko, Paweł; Dębska, Marzena; Kucińska‐Chahwan, Anna; Roszkowski, Tomasz; Kozłowski, Szymon; Mikulska, Boyana; Issat, Tadeusz; Obersztyn, Ewa; Nowakowska, Beata

doi:10.3390/genes12122021

Cited by 9 publications

(8 citation statements)

References 42 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…22q11.2DS has a reported contemporary live birth incidence of 1:2148 [2] and even higher prenatal prevalence estimates of 1:992 unselected pregnancies (those without identified cardiac anomalies) and 1:1497 miscarriages [3,4], regardless of maternal age. In recent studies, a 22q11.2 deletion was found in 1:19 pregnancies undergoing diagnostic testing for cardiac anomalies and 1:93 for all indications [5]. However, many children and adults with 22q11.2DS do not have congenital heart disease (CHD) or other anomalies that would be readily detectable on routine fetal ultrasonography [6][7][8].…”

Section: Introductionmentioning

confidence: 99%

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

Blagowidow

Nowakowska²,

Schindewolf

et al. 2023

Genes

View full text Add to dashboard Cite

Diagnosis of a chromosome 22q11.2 microdeletion and its associated deletion syndrome (22q11.2DS) is optimally made early. We reviewed the available literature to provide contemporary guidance and recommendations related to the prenatal period. Indications for prenatal diagnostic testing include a parent or child with the 22q11.2 microdeletion or suggestive prenatal screening results. Definitive diagnosis by genetic testing of chorionic villi or amniocytes using a chromosomal microarray will detect clinically relevant microdeletions. Screening options include noninvasive prenatal screening (NIPS) and imaging. The potential benefits and limitations of each screening method should be clearly conveyed. NIPS, a genetic option available from 10 weeks gestational age, has a 70–83% detection rate and a 40–50% PPV for most associated 22q11.2 microdeletions. Prenatal imaging, usually by ultrasound, can detect several physical features associated with 22q11.2DS. Findings vary, related to detection methods, gestational age, and relative specificity. Conotruncal cardiac anomalies are more strongly associated than skeletal, urinary tract, or other congenital anomalies such as thymic hypoplasia or cavum septi pellucidi dilatation. Among others, intrauterine growth restriction and polyhydramnios are additional associated, prenatally detectable signs. Preconception genetic counselling should be offered to males and females with 22q11.2DS, as there is a 50% risk of transmission in each pregnancy. A previous history of a de novo 22q11.2 microdeletion conveys a low risk of recurrence. Prenatal genetic counselling includes an offer of screening or diagnostic testing and discussion of results. The goal is to facilitate optimal perinatal care.

show abstract

Section: Introductionmentioning

confidence: 99%

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

Blagowidow

Nowakowska²,

Schindewolf

et al. 2023

Genes

View full text Add to dashboard Cite

show abstract

“…A further 74 articles were secondarily excluded from the quantitative analysis. Of these, 38 did not provide quantitative data [ 6 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 ], in 22 articles it was not possible to infer a quantitative analysis of incremental yield of CMA over standard karyotyping [ 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 …”

Section: Resultsmentioning

confidence: 99%

Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis

et al. 2022

View full text Add to dashboard Cite

Cardiovascular malformations (CVM) represent the most common structural anomalies, occurring in 0.7% of live births. The CVM prenatal suspicion should prompt an accurate investigation with fetal echocardiography and the assessment through genetic counseling and testing. In particular, chromosomal microarray analysis (CMA) allows the identification of copy number variations. We performed a systematic review and meta-analysis of the literature, studying the incremental diagnostic yield of CMA in fetal isolated CVM, scoring yields for each category of heart disease, with the aim of guiding genetic counseling and prenatal management. At the same time, we report 59 fetuses with isolated CVM with normal karyotype who underwent CMA. The incremental CMA diagnostic yield in fetuses with isolated CVM was 5.79% (CI 5.54–6.04), with conotruncal malformations showing the higher detection rate (15.93%). The yields for ventricular septal defects and aberrant right subclavian artery were the lowest (2.64% and 0.66%). Other CVM ranged from 4.42% to 6.67%. In the retrospective cohort, the diagnostic yield was consistent with literature data, with an overall CMA diagnostic yield of 3.38%. CMA in the prenatal setting was confirmed as a valuable tool for investigating the causes of fetal cardiovascular malformations.

show abstract

“…In general, unbalanced chromosomal aberrations accompanied CVAs in 47.5% of cases, which is more than previously reported. In the study by Kowalczyk et al [ 37 ], the aCGH technique revealed aneuploidies and structural aberrations in 37% of fetuses with heart anomalies. In our study, the most common chromosomal aberrations associated with CVAs were trisomies 21, 18, and 13, and triploidy, while the Pediatric Cardiac Genomics Consortium did not report trisomies 18 and 13 and triploidy as common findings [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

Cardiovascular Anomalies among 1005 Fetuses Referred to Invasive Prenatal Testing—A Comprehensive Cohort Study of Associated Chromosomal Aberrations

Wójtowicz

Madetko‐Talowska

Wójtowicz

et al. 2022

IJERPH

View full text Add to dashboard Cite

This retrospective cohort study comprehensively evaluates cardiovascular anomalies (CVAs) and associated extracardiac structural malformations (ECMs) among 1005 fetuses undergoing invasive prenatal testing at a single tertiary Polish center in the context of chromosomal aberrations detected in them by array comparative genomic hybridization (aCGH) and G-band karyotyping. The results of our study show that CVAs are among the most common malformations detected in fetuses undergoing invasive prenatal testing, as they affected 20% of all cases seen in our department. Septal defects predominated among fetuses with numerical aberrations, while conotruncal defects were the most common findings among fetuses with pathogenic copy number variants (CNVs). In 61% of cases, CVAs were associated with ECMs (the diagnosis was confirmed postnatally or in cases of pregnancy termination by means of autopsy). The most common ECMs were anomalies of the face and neck, followed by skeletal defects. In total, pathogenic chromosomal aberrations were found in 47.5% of CVAs cases, including 38.6% with numerical chromosomal aberrations. Pathogenic CNVs accounted for 14.5% of cases with CVAs and normal karyotype. Thus, our study highlights the importance of assessing the anatomy of the fetus, and of the genetic testing (preferably aCGH) that should be offered in all CVA and ECM cases.

show abstract

Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities

Cited by 9 publications

References 42 publications

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis

Cardiovascular Anomalies among 1005 Fetuses Referred to Invasive Prenatal Testing—A Comprehensive Cohort Study of Associated Chromosomal Aberrations

Contact Info

Product

Resources

About