PMC6753228_01
Identification of the genetic basis of polyhydramnios in a Chinese family. (A) Family pedigree and DNA sequencing results. Filled triangle with oblique line indicates the fetus with polyhydramnios terminated by therapeutic abortion. Filled square with oblique line indicates the affected boy who died after birth. Arrow indicates the proband. Open symbols indicate clinically unaffected family members. LMOD3 genotypes are provided for all subjects. Red arrows indicate the mutation positions. wt, wild-type. (B) Illustration of the LMOD3 structure and all currently reported severe NM-causing LMOD3 variants. The two novel variants identified in the current study are highlighted in red. Previous reported variants (in black) were from. See Supplementary Table S1 for variant descriptions at the nucleotide sequence level.
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f1
A 35-year-old woman was referred to our centre at the First Affiliated Hospital of Sun Yat-Sen University after her third fetus (II:3; Figure 1A) had been found to have polyhydramnios (SDP of 9.5 cm and an AFI of 30.7 cm) and hydrocele of testis at 29 gestational weeks (GW).
Ultrasound photographs of the 2 fetuses with polyhydramnios. (A-E) Ultrasound images of the first affected fetus (II-2) at 34 GW. Two-dimensional ultrasound showing polyhydramnios (amniotic fluid deep, AFD, 12.2 cm) (A) and fixed limbs (E). Bilateral pleural effusion (B, yellow arrow), ascites (C, yellow arrow), skin edema of chest (B, white arrow), abdomen (C, white arrow), and scalp (D, white arrow) were detected by ultrasound. (F, G) Ultrasound pictures of the second affected nemaline myopathy fetus (II-3) at 33 GW. Two-dimensional ultrasound revealed polyhydramnios (amniotic fluid deep, AFD, 11.5cm) (F) and hydrocele of testis (G) (yellow arrow).
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Prior to this, her second fetus (II:2) had presented with polyhydramnios and generalized edema (pleural effusion, ascites, skin edema of the chest, abdomen, and scalp) at 34 GW (Figures 2A-D) and was then terminated at 36 GW.