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Results 1 - 10 of 39 for Prenatal testing
  1. Pyruvate dehydrogenase deficiency 
    ... E340K and G101del). Analysis of a family and prenatal testing. Biochim Biophys Acta. 1997 Dec 31;1362(2- ...
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency - Genetics
  2. Phosphoglycerate dehydrogenase deficiency 
    ... deficiency 3-phosphoglycerate dehydrogenase deficiency PHGDH deficiency ... de Koning TJ, Klomp LW, van Oppen AC, Beemer FA, Dorland L, van den Berg I, Berger R. Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase ...
    https://medlineplus.gov/...phosphoglycerate-dehydrogenase-deficiency - Genetics
  3. Multiple pterygium syndrome 
    ... Hubner C, Mundlos S. Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor ...
    https://medlineplus.gov/.../condition/multiple-pterygium-syndrome - Genetics
  4. Campomelic dysplasia 
    ... dysplasia. Campomelic dwarfism Campomelic syndrome Camptomelic dysplasia ... G, Baffico AM, Pappalardo E, Mura I, Ettore G, Bianca S. Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia. Congenit Anom (Kyoto). 2014 ...
    https://medlineplus.gov/genetics/condition/campomelic-dysplasia - Genetics
  5. Hepatic veno-occlusive disease with immunodeficiency 
    ... Veno-occlusive disease and immunodeficiency syndrome VODI ... PJ, Ruga E, Wilcken B, Lindeman R, Buckley MF, Roscioli T. The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, ...
    https://medlineplus.gov/...o-occlusive-disease-with-immunodeficiency - Genetics
  6. Trisomy 18 
    ... Trisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003. Am J Med ... Salvatore D, Walters C, Chavez D, Vintzileos AM. Prenatal detection of fetal trisomy 18 through abnormal sonographic ...
    https://medlineplus.gov/genetics/condition/trisomy-18 - Genetics
  7. Caffey disease 
    ... last few weeks of development before birth. Lethal prenatal cortical hyperostosis, a more severe disorder that appears ... or shortly after birth, is sometimes called lethal prenatal Caffey disease; however, it is generally considered to ...
    https://medlineplus.gov/genetics/condition/caffey-disease - Genetics
  8. Carbamoyl phosphate synthetase I deficiency 
    ... phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis. Prenat Diagn. 2001 Aug;21(8):634- ... Schafer H, Sperhake K, Colombo JP, Gal A. Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by ...
    https://medlineplus.gov/...rbamoyl-phosphate-synthetase-i-deficiency - Genetics
  9. Trisomy 13 
    ... Trisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003. Am J Med ... 18 in a defined population: epidemiological, genetic and prenatal observations. Prenat Diagn. 2003 Oct;23(10):856- ...
    https://medlineplus.gov/genetics/condition/trisomy-13 - Genetics
  10. Pachyonychia congenita 
    ... and hair. Some babies with pachyonychia congenita have prenatal or natal teeth, which are teeth that are ... Lewandowski syndrome (PC-1) Pachyonychia congenita syndrome Genetic Testing Registry: Pachyonychia congenita 1 Genetic Testing Registry: Pachyonychia ...
    https://medlineplus.gov/genetics/condition/pachyonychia-congenita - Genetics
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