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

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.