Prenatal diagnosis of fetal 1p32p31 microdeletion syndrome: a case report / 中华围产医学杂志

ABSTRACT

We hereby reported a fetus with abnormal head shape, ventricular septal defect, gallbladder enlargement, low-set ears and local umbilical cord glial edema at 22 and 25 weeks of gestation ultrasound scan. A 15.318 Mb heterozygous microdeletion on chromosome 1p32.1p31.1, arr[GRCh37]1p32.1p31.1(61,279,239-76,597,189)×1, was indentified by chromosomal microarray analysis. The chromosome karyotype of the fetus was 46,XY,del(1)(p32.1p31.1). Therefore, this case was diagnosed as 1p32p31 microdeletion syndrome and proved to be a de novo variation based on routine G-banding analysis and chromosomal microarray analysis of the normal parents. This syndrome might present with abnormalities in the head shape, kidney, bladder and central nervous system. The couple decided to terminate the pregnancy after genetic counseling concerning the possible poor outcomes of the fetus.