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Alpha thalassemia major (ATM) is a hemoglobinopathy that usually results in perinatal demise if in utero transfusions (IUTs) are not performed. We established an international registry (NCT04872179) to evaluate the impact of IUTs on survival to discharge (primary outcome) as well as perinatal and neurodevelopmental secondary outcomes. Forty-nine patients were diagnosed prenatally and 11 were diagnosed postnatally: all 11 spontaneous survivors' genotypes had preserved embryonic zeta globin. We compared three groups of patients; Group 1 were prenatally diagnosed and alive at hospital discharge (n=14), Group 2 were prenatally diagnosed and deceased perinatally (n=5), Group 3 were postnatally diagnosed and alive at hospital discharge (n=11). Group 1 had better outcomes than Groups 2 and 3 in resolution of hydrops, delivery closer to term, shorter hospitalizations, and more frequent average or greater neurodevelopmental outcomes. Earlier IUT initiation correlated with higher neurodevelopmental (Vineland-3) scores (r= -0.72, P=0.02). Preterm delivery after IUT was seen in 3/16 (19%) of patients who continued their pregnancy. When we combined our data with those from two published series, patients who received ≥2 IUTs had better outcomes than those with 0-1 IUT, including resolution of hydrops, delivery ≥34 weeks' gestation, and 5-minute Apgar scores ≥7. Neurodevelopmental assessments were normal in 17/18 of the ≥2 IUT versus 5/13 of the 0-1 IUT group (OR 2.74; P=0.01). Thus, fetal transfusions enable survival of patients with ATM with normal neurodevelopment even in patients presenting with hydrops. Non-directive prenatal counseling of expectant parents should include the option of IUTs.

Poster abstracts nasal bone was 13%, combined ultrasound & biochemical detection rate was 91%. 15/17 fetus with trisomy 21 were detected (88.8%) with 9.4% false positive results (4.7% in women younger 35) (cut off 1/250). Conclusion: Combined screening in the first trimester of pregnancy is an efficient approach for detection of fetal chromosomal diseases. Screening in the first trimester is more effective than in the second trimester of pregnancy. P01.24 Abstract withdrawn P01.25Prenatal diagnosis of tetraploidy in a 13-week fetus with omphalocele and normal nuchal translucency Centro Paulista de Medicina Fetal, BrazilIntroduction: Tetraploidy is characterized by four complete sets of chromosomes (4n = 92). Although frequently reported in spontaneous abortions, tetraploidy is extremely rare in the second and third trimesters, and ultrasound (US) findings in this period are little reported. Case Reported: A 37 years old, 12 weeks pregnant woman was referred to Centro Paulista de Medicina Fetal -Sao Paulo -Brazil -to be submitted to a first-trimester ultrasound screening. We found a fetus with a CRL = 64.7 mm, nuchal translucency (NT) = 2.0 mm, nasal bone (NB) = 2.1 mm and a large omphalocele containing stomach. A chorionic villus sampling was performed and revealed a 92,XXXX karyotype. A new US was performed in 03/31/2006 (14 weeks), with CRL = 81.8 mm, NT = 1.3 mm NB = 3.1 mm and omphalocele measuring 25 × 24 mm, with stomach in it. The parents decided for maintenance of pre-natal care. Discussion: Increased NT is a well known aneuploidy marker, and it's associated with some structural anomalies, including omphalocele. The absence/hypoplastic NB has been investigated as an aneuploidy marker too, specially Down's syndrome. Omphalocele is a major malformation that can be associated with chromosomal abnormalities. There are few reports in the literature of such cases, with tetraploidy associated with these first-trimester US findings.

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