DiGeorge syndrome chromosome region deletion and duplication: Prenatal genotype‐phenotype variability in fetal ultrasound and MRI

Tramontana, Allessandra; Hartmann, Beda; Hafner, E.

doi:10.1002/pd.5572

Cited by 10 publications

(4 citation statements)

References 32 publications

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“…Fetal MRI can be a helpful tool, e.g., when evaluating the fetal brain, heart, or thymus. Two studies noted its role in the evaluation of the fetal thymus [8,64]. Fetal MRI has been found to be effective in the assessment of fetal cardiac anatomy, particularly for a more accurate study of the arch vessels [65].…”

Section: Third-trimester Ultrasoundmentioning

confidence: 99%

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

Blagowidow

Nowakowska²,

Schindewolf

et al. 2023

Genes

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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.

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Section: Third-trimester Ultrasoundmentioning

confidence: 99%

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

Blagowidow

Nowakowska²,

Schindewolf

et al. 2023

Genes

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“…In a study on 10 fetuses, diagnosed with DiGeorge syndrome prenatally, IUGR was detected in one fetus. 17 Another study on 42 cases with confirmed 22q11.2 deletion syndromes did not find any indication of IUGR. 18…”

Section: Discussionmentioning

confidence: 93%

Association Between Fetal Thymus Size and Intrauterine Growth Restriction

Keshavarz

Sheikhyusefi

Pouya

et al. 2021

Journal of Diagnostic Medical Sonography

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Objective: The objective of this study was to evaluate the association between reduced fetal thymus size and intrauterine growth restriction (IUGR). This study was devised to determine the association between thymus size and any abnormal Doppler indices within the fetal umbilical artery (UA), as well as the middle cerebral artery (MCA). Materials and Methods: Forty-six pregnancies between 20 and 38 weeks of gestation with IUGR and 46 normal pregnancies within similar gestational age (GA) range were included. The transverse diameter of fetal thymus was measured. In the IUGR group, the fetal umbilical artery (UA) and middle cerebral artery (MCA) Doppler flow velocities were recorded. Results: The mean GA of fetuses with IUGR (33.5 weeks) was higher than control group (30.3 weeks). To adjust for the effect of GA, analysis of covariance (ANCOVA) was performed. The adjusted mean thymus diameters were 19.02 mm in IUGR and 21.25 within the control group (mean difference = 2.23 mm; P = .02). The mean (±SD) thymus size in 16 fetuses, with abnormal Doppler findings, was significantly lower than in the group with normal Doppler findings, 17.45 (±2.50) vs 22.02 (±5.39) mm; P < .001. Conclusion: IUGR may be associated with reduced fetal thymus size, especially when coupled with abnormal Doppler findings. The thymus size in a group of IUGR fetuses, with abnormal Doppler findings, was smaller than IUGR fetuses, with normal Doppler findings.

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“…Fetal MRI can aid in evaluating the fetal brain or thymus 62,84,85 . Availability of fetal MRI is limited, however, and its use is generally reserved for diagnostic clarification in centers with experience.…”

Section: Introductionmentioning

confidence: 99%

Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation

Goldmuntz,

Bassett,

Boot

et al. 2024

Prenatal Diagnosis

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Clinical features of 22q11.2 microdeletion syndrome (22q11.2DS) are highly variable between affected individuals and frequently include a subset of conotruncal and aortic arch anomalies. Many are diagnosed with 22q11.2DS when they present as a fetus, newborn or infant with characteristic cardiac findings and subsequently undergo genetic testing. The presence of an aortic arch anomaly with characteristic intracardiac anomalies increases the likelihood that the patient has 22q11.2 DS, but those with an aortic arch anomaly and normal intracardiac anatomy are also at risk. It is particularly important to identify the fetus at risk for 22q11.2DS in order to prepare the expectant parents and plan postnatal care for optimal outcomes. Fetal anatomy scans now readily identify aortic arch anomalies (aberrant right subclavian artery, right sided aortic arch or double aortic arch) in the three‐vessel tracheal view. Given the association of 22q11.2DS with aortic arch anomalies with and without intracardiac defects, this review highlights the importance of recognizing the fetus at risk for 22q11.2 deletion syndrome with an aortic arch anomaly and details current methods for genetic testing. To assist in the prenatal diagnosis of 22q11.2DS, this review summarizes the seminal features of 22q11.2DS, its prenatal presentation and current methods for genetic testing.

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DiGeorge syndrome chromosome region deletion and duplication: Prenatal genotype‐phenotype variability in fetal ultrasound and MRI

Cited by 10 publications

References 32 publications

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

Association Between Fetal Thymus Size and Intrauterine Growth Restriction

Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation

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