Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation‐dependent probe amplification (MLPA) screening

Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

“…In this study, three prenatal cases with WBS and one with WBS reciprocal duplication have been described. Four additional WBS prenatal cases are present in literature . Regarding the reciprocal duplication, to the best of our knowledge, this is the first reported case detected by prenatal diagnosis.…”

“…We hypothesize that IUGR can be an early indication for the suspicion of WBS that should be prenatally investigated in addition to the other chromosomal causes (e.g.,: 4p16.3, 6q24-q25, and 15q26-qter microdeletions and uniparental disomy of chromosome 7) after a normal karyotype. In nearly all deleted prenatal cases, cardiac defects were present, and in case by Kontos et al [20], a small ventricular septal defect was detected which is not among the common cardiac features of WBS. Minor SVAS together with the characteristic facial dysmorphisms were identified only after a targeted US examination at 30 wg prompted by the cytogenetic findings [24].…”

“…In nearly all deleted prenatal cases, cardiac defects were present, and in case by Kontos et al. , a small ventricular septal defect was detected which is not among the common cardiac features of WBS. Minor SVAS together with the characteristic facial dysmorphisms were identified only after a targeted US examination at 30 wg prompted by the cytogenetic findings .…”

Experience Using a Rapid Assay for Aneuploidy and Microdeletion/Microduplication Detection in over 2,900 Prenatal Specimens

“…As demonstrated in our cohort, these microdeletions and microduplications may not be associated with abnormal ultrasounds, or abnormalities may not be visible until later in the pregnancy, making this test appropriate for low-risk cases. While professional guidelines support the use of microarrays in cases with ultrasound abnormalities [4][5][6] , the microdeletions and microduplications on our panel have been associated with prenatal abnormalities [46][47][48][49][50] , so this test would have added diagnostic capabilities if there are barriers to microarray testing, such as intolerance for VOUS, lack of insurance coverage, or cost (with SPPP costing a little more than one third of a microarray). By only testing for syndromes that are relatively severe and of known phenotypes, we aim to minimize counseling difficulties following abnormal results.…”

Fetal cardiac abnormalities: Genetic etiologies to be considered

“…While congenital heart disease is present in 75% of cases of WS, in the absence of a cardiac finding, the additional ultrasound signs are generally not detected . Prenatal diagnosis has been suspected by ultrasound in one case and in other cases was incidentally found such as on CMA for a fetal cardiac anomaly …”