Purpose We aimed to present the fetal ultrasound, cytogenetic/molecular testing and postmortem or postnatal clinical fndings of cases with 22q11.2DS diagnosed prenatally.
Materials and methods A retrospective medical record review of 48 prenatal cases diagnosed with 22q11.2DS were evaluated in our institution. Detailed ultrasound examination was performed on all fetuses. Postmortem and postnatal examinations were evaluated. The microdeletions were detected by karyotyping or microarray, then confrmed by FISH. Descriptive
statistical analysis was performed.
Results Demographic data of 48 prenatal cases including 46 singletons and 1 dichorionic diamniotic twin pregnancy were
evaluated. The most common extracardiac anomaly was skeletal system anomalies (25%), in which PEV was the most frequent one (20.8%). Polyhydramnios rate was detected as 31%, in 6.6% as an isolated fnding. Microdeletion has been detected
by karyotyping in 13 cases (13/47, 27.7%) (including 2 unbalanced translocations), by FISH in 28 cases (28/48, 58.3%), by
microarray/a-CGH testing in 7 cases. Microarray analysis showed that in one case with unbalanced translocation had two
consecutive deletions; one was proximal and other one distal to critical region and not encompassing TBX1 gene but CRKL
and LZTR1 genes.
Conclusion The current study demonstrates the whole spectrum of atypical phenotypic and genotypic variations of
22q11.2DS in the largest prenatal case series reported to date. Therefore, diferential diagnosis should be considered not
solely in CHD, but also in the presence of isolated clubfeet and polyhydramnios. Establishing the diagnosis in the prenatal
period may allow a postnatal multidisciplinary approach, as well as afect the actual prevalence of the disease.