PMC9459375_01
Prenatal ultrasonic examination results of the fetus. (A) Ultrasound examination elicited neck water sac tumor in the fetus. (B) Approach, flexion, and fixation of both lower limbs were observed in the fetus, indicating joint contractures. (C,D): the trunk skin layer is obviously thickened, and the echo is reduced, and diagnosed as fetal edema.
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F1
Subsequently, the woman had the second pregnancy, and ultrasound examination results elicited that the fetus had edema, increased nuchal translucency, neck water sac tumor, reduced movement, and abnormal posture (joint contractures) (Figure 1), and stillbirth occurred at the gestational age of 18+5 weeks in the second pregnancy. A novel frameshift variant in exon 8 compound with a novel missense variant in exon 5 in the CHRNA1 gene NM_000079.4: c.[1128delG (p.Pro377LeufsTer10)]; [505T>C (p.Trp169Arg)] was detected in the recruited fetus by WES technology detection, which was inherited from their parents, respectively (Figure 2 and Supplementary Table 1).
Novel variants of the CHRNA1 gene identified in the fetus. A-B: WES detection results demonstrated novel compound heterozyous variants in the CHRNA1 gene NM_000079.4: c.[1128delG (p.Pro377LeufsTer10)]; [505T>C (p.Trp169Arg)] in the fetus. C-D: both variants were further confirmed by Sanger sequencing.
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F2
A novel frameshift variant in exon 8 compound with a novel missense variant in exon 5 in the CHRNA1 gene NM_000079.4: c.[1128delG (p.Pro377LeufsTer10)]; [505T>C (p.Trp169Arg)] was detected in the recruited fetus by WES technology detection, which was inherited from their parents, respectively (Figure 2 and Supplementary Table 1).