Differential diagnosis of fetal and neonatal thrombocytopenia subdivided based on time of presentation
| Age at presentation . | Mechanism . | Examples of disorders . |
|---|---|---|
| Fetal | Alloimmune | FNAIT |
| Maternal autoimmune disease | ITP and SLE | |
| Congenital infection | CMV, rubella, enterovirus, HIV, adenovirus, parvovirus B19, and Toxoplasma | |
| Aneuploidy | Trisomies of 18, 13, and 21 and triploidy | |
| Genetic thrombocytopenia | ACTN1-, MYH9-, and TUBB1-related thrombocytopenias, TAR, and CAMT | |
| Severe rhesus disease | ||
| Early (<72 hours) | Perinatal asphyxia | Hypoxic ischemic encephalopathy with/without DIC |
| Placental insufficiency | Maternal preeclampsia, fetal IUGR, and maternal diabetes | |
| Perinatal infection with/without DIC | Escherichia coli and group B Streptococcus (Haemophilus influenzae) | |
| Alloimmune | FNAIT | |
| Maternal/perinatal autoimmune disease | Maternal ITP, SLE, neonatal lupus, and Kawasaki disease | |
| Aneuploidy | Trisomies of 18, 13, and 21; triploidy; and trisomy 21–associated TMD or AMKL | |
| Metabolic disorders | Propionic, methylmalonic, and isovaleric acidemia; transaldolase deficiency; mevalonate kinase deficiency; cobalamin disorders; Gaucher disease; and Niemann-Pick disease type C | |
| Congenital infection | CMV, rubella, enterovirus, HIV, adenovirus, and parvovirus B19 | |
| Bone marrow failure | Congenital leukemia, osteopetrosis, and HLH | |
| Consumptive thrombocytopathy | Kasabach-Merritt syndrome, HIT, TTP, and renal vein thrombosis | |
| Genetic thrombocytopenia | ACTN1-, MYH9-, and TUBB1-related thrombocytopenias, TAR, and CAMT | |
| Late (≥72 hours) | Late-onset sepsis with/without DIC | E coli, group B Streptococcus, coagulase-negative staphylococci, Staphylococcus aureus, and Klebsiella |
| Necrotizing enterocolitis or SIP | ||
| Congenital infection | Toxoplasma, CMV, rubella, HIV, HSV, enteroviruses, and parvovirus B19 | |
| Neonatal autoimmune | Neonatal lupus | |
| Metabolic disorders | Propionic, methylmalonic, and isovaleric acidemia; transaldolase deficiency; mevalonate kinase deficiency; cobalamin disorders; Gaucher disease; and Niemann-Pick disease type C | |
| Genetic thrombocytopenia | ACTN1, MYH9 and TUBB1-related thrombocytopenias, TAR, and CAMT |
| Age at presentation . | Mechanism . | Examples of disorders . |
|---|---|---|
| Fetal | Alloimmune | FNAIT |
| Maternal autoimmune disease | ITP and SLE | |
| Congenital infection | CMV, rubella, enterovirus, HIV, adenovirus, parvovirus B19, and Toxoplasma | |
| Aneuploidy | Trisomies of 18, 13, and 21 and triploidy | |
| Genetic thrombocytopenia | ACTN1-, MYH9-, and TUBB1-related thrombocytopenias, TAR, and CAMT | |
| Severe rhesus disease | ||
| Early (<72 hours) | Perinatal asphyxia | Hypoxic ischemic encephalopathy with/without DIC |
| Placental insufficiency | Maternal preeclampsia, fetal IUGR, and maternal diabetes | |
| Perinatal infection with/without DIC | Escherichia coli and group B Streptococcus (Haemophilus influenzae) | |
| Alloimmune | FNAIT | |
| Maternal/perinatal autoimmune disease | Maternal ITP, SLE, neonatal lupus, and Kawasaki disease | |
| Aneuploidy | Trisomies of 18, 13, and 21; triploidy; and trisomy 21–associated TMD or AMKL | |
| Metabolic disorders | Propionic, methylmalonic, and isovaleric acidemia; transaldolase deficiency; mevalonate kinase deficiency; cobalamin disorders; Gaucher disease; and Niemann-Pick disease type C | |
| Congenital infection | CMV, rubella, enterovirus, HIV, adenovirus, and parvovirus B19 | |
| Bone marrow failure | Congenital leukemia, osteopetrosis, and HLH | |
| Consumptive thrombocytopathy | Kasabach-Merritt syndrome, HIT, TTP, and renal vein thrombosis | |
| Genetic thrombocytopenia | ACTN1-, MYH9-, and TUBB1-related thrombocytopenias, TAR, and CAMT | |
| Late (≥72 hours) | Late-onset sepsis with/without DIC | E coli, group B Streptococcus, coagulase-negative staphylococci, Staphylococcus aureus, and Klebsiella |
| Necrotizing enterocolitis or SIP | ||
| Congenital infection | Toxoplasma, CMV, rubella, HIV, HSV, enteroviruses, and parvovirus B19 | |
| Neonatal autoimmune | Neonatal lupus | |
| Metabolic disorders | Propionic, methylmalonic, and isovaleric acidemia; transaldolase deficiency; mevalonate kinase deficiency; cobalamin disorders; Gaucher disease; and Niemann-Pick disease type C | |
| Genetic thrombocytopenia | ACTN1, MYH9 and TUBB1-related thrombocytopenias, TAR, and CAMT |
The more common diagnoses within each time interval are indicated in bold.
CAMT, congenital amegakaryocytic thrombocytopenia; CMV, cytomegalovirus; DIC, disseminated intravascular coagulation; HIT, heparin-induced thrombocytopenia; HSV, herpes simplex virus; HLH, hemophagocytic lymphohistiocytosis; ITP, immune thrombocytopenic purpura; IUGR, intrauterine growth retardation; SIP, spontaneous intestinal perforation; SLE, systemic lupus erythematosus; TAR, thrombocytopenia absent radius syndrome; TMD, transient myeloproliferative disorder; TMKD, acute megakaryoblastic leukemia; TTP, thrombotic thrombocytopenic purpura; WAS, Wiskott-Aldrich syndrome.