The prenatal diagnosis and clinical outcomes of fetuses with 15q11.2
copy number variants: a case series of 36 patients
Abstract
Objective: The prenatal genetic counseling of fetus diagnosed with the
15q11.2 copy number variant (CNV) involving the BP1-BP2 region has been
difficult due to limited information and controversial opinion on
prognosis. Design: Case series. Setting: This study uses data from
National Taiwan University Hospital. Sample: Data of 36 pregnant women
who underwent prenatal microarray analysis from 2012 to 2017 and were
assessed at National Taiwan University Hospital. Methods: Data were
collected by reviewing patients’ medical record. Comparison of patient
characteristics, prenatal ultrasound findings and postnatal outcomes
between different cases involving the 15q11.2 BP1-BP2 region were
presented. Main outcome measured: Postnatal prognosis. Results: Out of
the 36 patients diagnosed with CNVs involving the BP1-BP2 region, 5 were
diagnosed with microduplication and 31 with microdeletion. Abnormal
ultrasound findings were recorded in 12 cases prenatally. De novo
microduplications were observed in 25% of the cases and microdeletions
were found in 14%. Amongst the cases, 10 pregnant women received
termination of pregnancy and 26 gave birth to healthy individuals (27
babies in total). Conclusion: The prognoses of 15q11.2 CNVs were
controversial and recent studies have revealed its connection with
developmental delay and autism. In our study, no obvious developmental
delay or neurological disorders were detected postnatally in the 1 case
of 15q11.2 microduplication and 25 cases of microdeletion.