• Jing Sha, Fangfang Tan, Ying Liu, Zaochun Xu, Xuezhen Wang, and Jingfang Zhai.
• Xuzhou Central Hospital, Xuzhou Clinical Schools of Xuzhou Medical University and Nanjing Medical University, Xuzhou, Jiangsu, China.
• Medicine (Baltimore). 2022 Apr 22; 101 (16): e29222e29222.

RationaleThe 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 ConcernsA 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.DiagnosesThe karyotype and copy number variations sequencing (CNV-seq) combined with fetal ultrasound manifestation confirmed the diagnosis of SGBS1.InterventionsNo treatment for the fetus.OutcomesPregnancy was terminated.LessionsOnce 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.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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