Congenital leukemia: Definition, symptoms, and treatment Health ConditionsHealth ConditionsAlzheimer's & DementiaAnxietyArthritisAsthma & AllergiesBreast CancerCancerCardiovascular HealthCOVID-19Dermatology & SkincareDiabetesEnvironment & SustainabilityExercise & FitnessEye HealthHeadache & MigraineHealth EquityHIV & AIDSHuman BiologyInflammatory Bowel DiseaseLeukemiaLGBTQIA+Men's HealthMental HealthMultiple Sclerosis (MS)NutritionParkinson's DiseasePsoriasisSexual HealthWomen's HealthDiscoverNewsLatest NewsOriginal SeriesMedical MythsHonest NutritionThrough My EyesNew Normal HealthPodcastsHow to understand chronic painWhat is behind vaccine hesitancy?The amazing story of hepatitis C, from discovery to cureNew directions in dementia researchCan psychedelics rewire a depressed, anxious brain?Why climate change matters for human healthToolsGeneral HealthDrugs A-ZHealth HubsHealth ToolsBMI Calculators and ChartsBlood Pressure Chart: Ranges and GuideBreast Cancer: Self-Examination GuideSleep CalculatorHealth ProductsAffordable Therapy OptionsBlood Pressure MonitorsDiabetic SuppliesFitness TrackersHome GymsGreen Cleaning ProductsHow to Shop for CBDQuizzesRA Myths vs FactsType 2 Diabetes: Managing Blood SugarAnkylosing Spondylitis Pain: Fact or FictionConnectAbout Medical News TodayWho We AreOur Editorial ProcessContent IntegrityConscious LanguageNewslettersSign UpFollow UsMedical News TodayHealth ConditionsDiscoverToolsConnectSubscribe What is congenital leukemia Medically reviewed by Teresa Hagan Thomas PHD, BA, RN — By Beth Sissons on March 30, 2022Congenital leukemia is a rare condition that develops in an unborn baby in the womb or during the first month of a baby’s life. It is more common in infants with inherited syndromes. The standard treatment is chemotherapy. Congenital leukemia (CL) is a very rare condition that doctors diagnose at birth or within the first month of the baby’s life. The estimated 175–200 reported cases suggest that the condition affects about 1 in 5 million people. This article explains what CL is and how doctors diagnose and treat it. It also looks at the risk factors for CL and the outlook for people with this condition. What is congenital leukemia Share on PinterestFly View Productions/Getty ImagesCL is a leukemia diagnosis at birth or within 4 weeks of birth. Certain subtypes of leukemia are more common, with acute myeloid leukemia (AML) occurring more frequently than acute lymphoblastic leukemia (ALL) in newborns. Both of these subtypes often involve genetic abnormalities, which occur in more than half of CL cases. Which types of leukemia can be congenital There are several types of CL:AMLALLmixed phenotype acute leukemia (MPAL)blastic plasmacytoid dendritic cell neoplasm AML is more common than ALL, accounting for two-thirds of reported cases. Learn more about AML in children. Symptoms of leukemia in infants Leukemia symptoms in infants are usually more severe than they are in older children. The possible symptoms of leukemia in infants include:tirednessweaknessfeeling coldpaler skin than usual, which may not be apparent in people with dark skin tonesshortness of breathfrequent or persistent infectionsfeverbruising or bleeding easilysevere or frequent nosebleedsbleeding or swollen gumsswollen bellylack of appetiteweight lossswollen lymph nodes, which may appear as lumps under the skin in areas such as the underarms, groin, and neckcoughing or difficulty breathingswollen face and armsseizures and vomitingrashes, including small, dark spots on the skin Some of these symptoms can also be signs of other conditions or benign illnesses, but parents or caregivers should contact a doctor as soon as possible if they notice any of these symptoms or other unusual symptoms in a newborn. Diagnosis As part of the diagnostic process for CL, doctors may carry out a range of tests, such as:Complete blood count (CBC): A CBC is a blood test that shows the number of blood cells in the blood. Infants with leukemia may have an excess of white blood cells and not enough red blood cells.Peripheral blood smear: A peripheral blood smear spreads a blood sample on a glass slide, which doctors will then examine under a microscope to check for abnormal blood cell changes.Flow cytometry: Flow cytometry shows how a sample of cells from blood or bone marrow reacts to antibodies. It can help doctors identify leukemia subtypes. Causes Leukemia has no clear cause in infants, but it may occur due to:changes in DNA within healthy bone marrow cells, resulting in bone marrow cells growing out of control and turning into leukemia cellsinherited DNA mutations from a parentinherited conditions, such as Li-Fraumeni syndrome, which increases the risk of leukemiaexposure to radiation or chemicals that cause cancerinherited genes that are less effective in eliminating harmful chemicals from the body, putting the person at higher risk of leukemia if they have exposure to harmful chemicals Risk factors According to earlier research from 2004, older maternal age is a risk factor for CL. A 2016 case report notes that people with Down syndrome are 20 times as likely to have leukemia than those without this condition. About 2% of people with CL have Down syndrome. According to the American Cancer Society, children with Down syndrome are at higher risk because they have an additional copy of chromosome 21. The society also lists other risk factors for childhood leukemia:Li-Fraumeni syndromeataxia-telangiectasiaWiskott-Aldrich syndromeBloom syndromeShwachman-Diamond syndromehaving a sibling with leukemiaexposure to radiation Treatment The treatment for infants with AML is usually the same as the treatment for older children. It might include chemotherapy alongside the drug gemtuzumab. Infants with ALL require different treatment than older children with ALL. The treatment for infants with ALL may involve a range of chemotherapy drugs. Outlook A 2019 analysis of 59 cases of CL reported that the overall 2-year survival rate was 44.2%. The median lifespan for infants with the disease was 210 days. The researchers found no significant difference between the 2-year survival rates of infants who received chemotherapy and those who did not. However, in infants with a KMT2A translocation, a genetic alteration common in AML, chemotherapy increased the average survival to 142 days compared with only 25 days with supportive therapy. Summary CL is a rare type of leukemia that doctors diagnose at birth or within a few weeks of birth. The most common type of CL is AML. CL is often the result of inherited gene mutations or syndromes. Infants with Down syndrome have an increased risk of CL. Doctors can carry out tests to diagnose CL, including a complete blood count and a peripheral blood smear. The treatment may include chemotherapy drugs. The outlook for those with CL will often depend on the type of leukemia, the specific genetic mutations involved, and the response to treatment. Last medically reviewed on March 30, 2022GeneticsLeukemiaBlood / HematologyCancer / OncologyPediatrics / Children's Health 12 sourcescollapsedMedical News Today has strict sourcing guidelines and draws only from peer-reviewed studies, academic research institutions, and medical journals and associations. We avoid using tertiary references. We link primary sources — including studies, scientific references, and statistics — within each article and also list them in the resources section at the bottom of our articles. You can learn more about how we ensure our content is accurate and current by reading our editorial policy.Brown, P. (2016). Treatment of infant leukemias: Challenge and promise.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729208/Brown, P., et al. (2019). How I treat infant leukemia.https://ashpublications.org/blood/article/133/3/205/261427/How-I-treat-infant-leukemiaRavindranath, Y. (2004). Down syndrome and leukemia: New insights into the epidemiology, pathogenesis, and treatment.https://onlinelibrary.wiley.com/doi/10.1002/pbc.20242Risk factors for childhood leukemia. (2020).https://www.cancer.org/cancer/leukemia-in-children/causes-risks-prevention/risk-factors.htmlRoberts, I., et al. (2018). Neonatal leukaemia.https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.15246Shrivastava, J. P., et al. (2016). Congenital acute myeloid leukemia: A rare diagnostic enigma case report with review of literature.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5184764/Signs and symptoms of childhood leukemia. (2019).https://www.cancer.org/cancer/leukemia-in-children/detection-diagnosis-staging/signs-and-symptoms.htmlTests for childhood leukemia. (2019).https://www.cancer.org/cancer/leukemia-in-children/detection-diagnosis-staging/how-diagnosed.htmlWang, Y., et al. (2016). Impact of age on the survival of pediatric leukemia: An analysis of 15083 children in the SEER database.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5347803/What causes childhood leukemia? (2019).https://www.cancer.org/cancer/leukemia-in-children/causes-risks-prevention/what-causes.htmlYarbrough, C. K., et al. (2015). Congenital acute myeloid leukemia with unique translocation t(11;19)(q23;p13.3).https://www.cureus.com/articles/2860-congenital-acute-myeloid-leukemia-with-unique-translocation-t1119q23p133Zhang, Q., et al. (2019). Analysis of 59 cases of congenital leukemia reported between 2001 and 2016.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6833372/#!po=31.2500FEEDBACK:Medically reviewed by Teresa Hagan Thomas PHD, BA, RN — By Beth Sissons on March 30, 2022 Latest newsWhat sets 'SuperAgers' apart? 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