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Ultrasound findings in the 1st Trimester. (A) Increased Nuchal Translucency (NT) at 13 + 5 weeks of gestation in twin II. (B) A simple cystic structure in the abdomen, most probably a gastrointestinal duplication cyst. (C) Hyperechogenic kidneys. (D) Malposition of the fetal heart in the chest at 13 + 5 weeks. The position of the fetal heart in the middle of the thorax.
Source publication
Simpson-Golabi-Behmel syndrome (SGBS) is a rare x-linked overgrowth syndrome with distinct clinical features, which is difficult to diagnose prenatally. We report the diagnosis of SGBS in dichorionic-diamniotic twin pregnancies in the first trimester by ultrasound and genetic testing. The affected fetus developed polyhydramnios and the cervical len...
Context in source publication
Context 1
... 38-year-old women with a dichorionic-diamniotic twin pregnancy, after in-vitro fertilisation, attended routine first trimester screening at 13 + 4 weeks of gestation. One of the twins (fetus I) pair showed normal NT measurement and a low risk for chromosomal abnormalities, whereas the other twin (fetus II) presented an increased NT of 5.2 mm, the position of the fetal heart in the middle of the thorax, and hyperechogenic kidneys (Figure 1). At this stage, the patient declined invasive diagnosis. ...
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Citations
... Simpson-Golabi-Behmel syndrome type 1 (SGBS1, OMIM 312870) is an X-linked recessive disorder with the typical features of SGBS1 including pre/postnatal overgrowth, multisystem abnormalities such as cardiovascular defects, abnormal craniofacial features, genitourinary defects, and skeletal anomalies, as well as increased risks for embryonal tumors. [1,2] It is the common one of the two subtypes associated with mutations of glypican-3 (GPC3) and glypican-4 (GPC4), [3] which is usually diagnosed postnatally. Recently, sequencing technology has been widely applied to prenatal diagnosis and helped clinicians further define the genetic diagnosis associated with fetal structural abnormalities. ...
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.
