A prenatal case of Simpson-Golabi-Behmel syndrome type 1 with a 0.26-Mb deletion fragment at Xq26.2 inherited from mother

Abstract

Abstract. Rationale:. The purpose of this report was to explore how to manage the fetus of Simpson-Golabi-Behmel syndrome type 1 (SGBS1) and to provide a definite diagnosis to guide the following genetic counseling for the pregnancy. Patient concerns:. A 24-year-old women, gravida 1, para 0, was 172 cm tall with weight 65 kg. She was referred to our center for counseling due to second-trimester ultrasound screening anomalies at 22 + 5 weeks of gestation age. Meanwhile the ultrasound examination indicated the overgrowth of the fetus. She and her husband were healthy and nonconsanguineous without family history. Diagnoses:. The karyotype and copy number variations sequencing (CNV-seq) combined with fetal ultrasound manifestation confirmed the diagnosis of SGBS1. Interventions:. No treatment for the fetus. Outcomes:. Pregnancy was terminated. Lessions:. Once fetal overgrowth and other malformation are revealed in prenatal ultrasound, although without polyhydramnios and organomegaly, SGBS1 should be considered and further genetic testing such as CNV-seq and whole exon sequencing should be conducted to help clinicians provide a definite diagnosis to guide the following genetic counseling and the next pregnancy.