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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.

Authors:
Jing Sha Fangfang Tan Ying Liu Zaochun Xu Xuezhen Wang Jingfang Zhai

Medicine (Baltimore) 2022 Apr 22;101(16):e29222. Epub 2022 Apr 22.

Xuzhou Central Hospital, Xuzhou Clinical Schools of Xuzhou Medical University and Nanjing Medical University, Xuzhou, Jiangsu, China.

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.

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http://dx.doi.org/10.1097/MD.0000000000029222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9276221PMC
April 2022

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