Table 1

Clinical information of the members of a family with ANGPT2 c.557A>G r.557_566del

Individual/pregnancyIII-3III-4III-5III-7III-8III-9II-1II-2II-6
PhenotypeHealthy girlIUFD, week 24+2IUFD, week 27+3TOP, week 14Miscarriage, week 14Healthy boyHealthy fatherHealthy motherMaternal aunt
SexFemaleMaleFemaleMaleMaleMaleMaleFemaleFemale
Sample/analysisBloodAmnionCVSAmnionFibroblastsUmbilical cordBloodBloodBlood
AnalysisWESWESWESWESWESSangerWESWESSanger, WES
GenotypeHetHomHomHomHomHetHetHetWT/WT
OutcomeHealthy.Severe, progressive hydrops, IUFD week 24.Severe, progressive hydrops, IUFD week 27.Early detected severe hydrops, TOP week 14.Early detected severe hydrops, spontaneous abortion week 14.Healthy.Healthy.Healthy.‘Oedema’ in childhood, lower extremity lymphoedema.
Early US, including NTWeek 11+2 normal, no measurement of NT.Week 11 normal, no measurement of NT.Week 12+3 NT 5.0, cystic hygroma subcutaneous fluid.Week 12+4 cystic hygroma, subcutaneous fluid.Week 11+0 NT 3.7,
generalised subcutaneous fluid, cystic hygroma.
Week 12+4 NT 4.5
Later USWeek 18 normal.
Week 32 normal.
Week 19+5 (LMP).
Week 17 (US) screening hydrothorax, ascites, subcutaneous fluid.
Week 16 hydrothorax, subcutaneous fluid, cystic hygroma.
Week 26 ascites.
Week 14+4 cystic hygroma and hydrothorax.Week 12+1 NT 6–7 mm.Week 14+2 NT normal.
PMNAYesYesNANANA
CardiacNATetralogy of FallotNormal at PMNANANA
Skeletal/growthNA2-week discrepancy EDD from LMP and from US.Short long bones, bell-shaped thorax (due to hydrothorax/hypoplastic lungs.NANANA
IHC in lymphatic endotheliumNANo observed increase in number of lymphatic vesselsNo observed increase in number of lymphatic vesselsNANANA
PlacentaNAHydropic placenta.
Thick (3 cm), oedematous.
Weight 360 g.
Hydropic placenta.
Thick (2,9 cm).
Weight 440 g.
Abnormal vascular architecture/proliferation of vessels.
NANANA
  • Created by the authors.

  • CVS, chorionic villous biopsy; EDD, estimated due date; Het, heterozygous; Hom, homozygous; IHC, immunohistochemistry; IUFD, intrauterine fetal death; LMP, last menstrual period; NA, not assessed/not applicable; NT, nuchal translucency; PM, postmortem examination; TOP, termination of pregnancy; US, ultrasound; WES, whole exome sequencing; WT, wild-type.