Résumé
This paper reported a woman with polycystic kidney disease who had increased fetal nuchal translucency (NT) in her two sequential pregnancies. The fetal NT thickness in the first pregnancy was 5.1 mm at 12 +5 weeks of gestation, and the infant was born prematurely at 32 gestational weeks. However, the baby girl died due to respiratory insufficiency and severe asphyxia. The NT thickness in the present pregnancy was 5.7 mm at 12 weeks of gestation. Whole-exome sequencing (WES) and Sanger sequencing confirmed that the dead infant and the current fetus carried compound heterozygous variants of maternal c.4255_4256del and paternal c.18366+2T>C in NEB gene, both were pathogenic variants. The current fetus was diagnosed with arthrogryposis multiplex congenita 6 (AMC6). After genetic counseling, the pregnant woman chose to terminate the pregnancy. The pregnant woman was diagnosed as having polycystic kidney disease type 1 caused by large deletions in exons 25-43 of PKD1 gene by WES combined with multiplex ligation-dependent probe amplification technology.