Table 1.
Clinical characteristics, pregnancy outcome and chromosomal analysis of 23 prenatally diagnosed cases of non‐immune hydrops fetalis
| Case | GA at referral (weeks) | Clinical information | Sample | Pregnancy outcome | Preceding genetic analysis |
|---|---|---|---|---|---|
| 1 | 19 + 3 | Hydrops fetalis, oligohydramnios and fetal akinesia | Lung tissue | TOP | QF‐PCR: XY; CMA: normal |
| 2 | 18 + 0 | Hydrops fetalis | Lung tissue | Miscarriage | QF‐PCR: XX; CMA: normal |
| 3 | 18 + 0 | Hydrops fetalis | Lung tissue | Miscarriage | QF‐PCR: XX; CMA: normal |
| 4 | 30 + 0 | Hydrops fetalis | CVS | IUFD | QF‐PCR: XY; CMA: normal |
| 5 | 21 + 0 | Hydrops fetalis, suspected hypertelorism, low‐set ears, hepatomegaly, abnormal hands and short extremities | Spleen tissue | TOP | QF‐PCR: XX; CMA: normal |
| 6 | 20 + 1 | Hydrops fetalis, hygroma, pelvic cyst and unilateral renal agenesis | AC | TOP | QF‐PCR: XX; CMA: normal |
| 7 | 29 + 0 | Hydrops fetalis, polyhydramnios and unilateral multicystic dysplastic kidney | AC | IUFD | QF‐PCR: XX; CMA: normal |
| 8 | 18 + 2 | Hydrops fetalis, IUGR, suspected atrial septal defect | Lung tissue | Miscarriage | QF‐PCR: XX; CMA: normal |
| 9 | 14 + 2 | Hydrops fetalis, hygroma | CVS | TOP | QF‐PCR: XY; CMA: normal |
| 10 | 12 + 2 | Hydrops fetalis, hygroma and liver calcifications | Lung tissue | TOP | QF‐PCR: XY; CMA: normal |
| 11 | 24 + 1 | Initially dichorionic diamniotic twin pregnancy: Twin 1 missed miscarriage, Twin 2 hydrops fetalis | CVS | IUFD | QF‐PCR: XX |
| 12 | 19 + 0 | Hydrops fetalis, IUGR, micrognathia, low‐set ears, camptodactyly, lung hypoplasia and liver calcification | Lung tissue | Miscarriage | QF‐PCR: XY; CMA: normal |
| 13 | 18 + 0 | Hydrops fetalis with prior nuchal translucency thickness 4.4 mm | Lung tissue | Miscarriage | QF‐PCR: XX; CMA: normal |
| 14 | 13 + 0 | Hydrops fetalis | CVS | TOP | QF‐PCR: XY; CMA: normal |
| 15 | 36 + 5 | Consanguineous marriage, three previous pathological pregnancies with hydrops fetalis; current pregnancy with IUFD but no sign of hydrops fetalis at time of assessment | Lung tissue | IUFD | QF‐PCR: XY; karyotype analysis (on CVS): XY |
| 16 | 18 + 0 | Hydrops fetalis and IUGR | AC | Miscarriage | QF‐PCR: XY; CMA: normal |
| 17 | 23 + 0 | Resolving hydrops fetalis, micropenis, cardiomegaly and increased nuchal fold | CVS | Live birth | QF‐PCR: XY; CMA: normal |
| 18 | 30 + 2 | Severe hydrops fetalis | AC | Live birth | QF‐PCR: XY; CMA: normal |
| 19 | 19 + 6 | Hydrops fetalis | AC | TOP | QF‐PCR: XX |
| 20 | 19 + 2 | Hydrops fetalis with multiple malformations | Lung tissue | TOP | QF‐PCR: XX; CMA: normal |
| 21 | 28 + 0 | Hydrops fetalis | AC | IUFD | QF‐PCR: XY; CMA: normal |
| 22 | 13 + 2 | Mild hydrops fetalis | CVS | Live birth | QF‐PCR: XY; CMA: normal |
| 23 | 32 + 4 | Hydrops fetalis | AC | IUFD | QF‐PCR: XY; CMA: normal |
Clinical information was obtained from referral letters regarding ultrasound findings and autopsy reports, as applicable.
AC, amniocentesis; CMA, chromosomal microarray analysis; CVS, chorionic villus sampling; GA, gestational age; IUFD, intrauterine fetal demise; IUGR, intrauterine growth restriction; QF‐PCR, quantitative fluorescence polymerase chain reaction (targeting chromosomes 13, 18, 21, X and Y); TOP, termination of pregnancy.