ArticleAmerican journal of medical genetics. Part A2018
Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.
Article in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 58 citations in OpenAlex.
- Outcomes and Management of Pregnancies Screening Positive for Microdeletions 22q11.2, 15q11.2, 1p36, 4p, or 5p: A Retrospective Cohort Study.The application of clinical genetics · 2026Article
- Evaluating the effectiveness of routine noninvasive prenatal screening for CNVs in 22q11.2 region in a cohort of 38,495 pregnancies.Scientific reports · 2025Article
- Comprehensive prenatal and postnatal analysis of 22q11.2 microdeletion syndrome: a single-center study.BMC pregnancy and childbirth · 2025Article
- Prenatal genetic findings using karyotyping and chromosomal microarray analysis in the first-occurrence typical orofacial clefts.Molecular biology reports · 2025Article
- Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.Prenatal diagnosis · 2024Review
- Etiologic evaluation and pregnancy outcomes of fetal growth restriction (FGR) associated with structural malformations.Scientific reports · 2024Article
- Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.American journal of obstetrics and gynecology · 2024Article
- Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report.Medicina (Kaunas, Lithuania) · 2023Article
- Clinical Course and Outcome of Prenatally Detected 22q11.2 Deletion Syndrome-A Retrospective Analysis.Diagnostics (Basel, Switzerland) · 2023Article
- Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.International journal of molecular sciences · 2023Review
- Review
- Article
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- Late maternal diagnosis of DiGeorge syndrome with congenital hypoparathyroidism following antenatal detection of the same 22q11.2 microdeletion syndrome in the fetus.BMJ case reports · 2022Article
- Antenatal screening for chromosomal abnormalities.Archives of gynecology and obstetrics · 2022Review
- Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center.Archives of gynecology and obstetrics · 2022Article
- Utility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study.The application of clinical genetics · 2022Article
- Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases.The Journal of allergy and clinical immunology · 2022Article
- Performance of a targeted cell-free DNA prenatal test for 22q11.2 deletion in a large clinical cohort.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2021Article
- Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome.Current psychiatry reports · 2021Review
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
22q deletion syndrome (22q11.2DS) is most often correlated prenatally with congenital heart disease and or cleft palate. The extracardiac fetal phenotype associated with 22q11.2DS is not well described. We sought to review both the fetal cardiac and extracardiac findings associated with a cohort of cases ascertained prenatally, confirmed or suspected to have 22q11.2DS, born and cared for in one center. A retrospective chart review was performed on a total of 42 cases with confirmed 22q11.2DS to obtain prenatal findings, perinatal outcomes and diagnostic confirmation. The diagnosis was confirmed prenatally in 67% (28/42) and postnatally in 33% (14/42). The majority (81%) were associated with the standard LCR22A-LCR22D deletion. 95% (40/42) of fetuses were prenatally diagnosed with congenital heart disease. Extracardiac findings were noted in 90% (38/42) of cases. Additional findings involved the central nervous system (38%), gastrointestinal (14%), genitourinary (16.6%), pulmonary (7%), skeletal (19%), facial dysmorphism (21%), small/hypoplastic thymus (26%), and polyhydramnios (30%). One patient was diagnosed prenatally with a bilateral cleft lip and cleft palate. No fetus was diagnosed with intrauterine growth restriction. The average gestational age at delivery was 38 weeks and average birth weight was 3,105 grams. Sixty-two percentage were delivered vaginally and there were no fetal demises. A diagnosis of 22q11.2 deletion syndrome should be considered in all cases of prenatally diagnosed congenital heart disease, particularly when it is not isolated. Microarray is warranted in all cases of structural abnormalities diagnosed prenatally. Prenatal diagnosis of 22q11.2 syndrome can be used to counsel expectant parents regarding pregnancy outcome and guide neonatal management.
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