This paper is only available as a PDF. To read, Please Download here.
Advances in prenatal diagnostic techniques allow for earlier, more rapid, and more
effective detection of congenital disorders. The indications, diagnostic accuracy,
and risks for invasive diagnostic techniques including amniocentesis, chorionic villus
sampling, and fetal blood sampling are reviewed. Recent advances in non-invasive detection
methods, such as fetal ultrasound and the isolation of fetal cells in the maternal
circulation are discussed. Additionally, the intrauterine diagnosis of congenital
infections and chromosomal and Mendelian disorders, as well as hematologic disorders
are summarized.
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribers receive full online access to your subscription and archive of back issues up to and including 2002.
Content published before 2002 is available via pay-per-view purchase only.
Subscribe:
Subscribe to Clinics in Laboratory MedicineAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Antenatal diagnosis of haematological disorders—“1978.”.Clin Haematol. 1978; 7: 195
- Fetal blood sampling and its complications related to the indications for fetal blood sampling.Aust N Z J Obstet Gynaecol. 1993; 33: 259
- Amniocentesis and its complications.Aust N Z J Obstet Gynaecol. 1992; 32: 97
- Special report. The status of fetoscopy and fetal tissue sampling The results of the first meeting of the International Fetoscopy Group.Prenat Diagn. 1984; 4: 79
- Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia.Hum Genet. 1986; 73: 86
- Kell typing by allele-specific PCR (ASP).Br J Haematol. 1996; 93: 728
- Composition of liquor amnii in hemolytic disease of the newborn.J Obstet Gynecol Br Comm. 1953; 60: 244
- Detection of fetal cells with 47XY, +21 karyotype in maternal peripheral blood.Hum Genet. 1992; 90: 368
- Inheritence of protoporphyria. Comparison of haem synthetase activity in skin fibroblasts with clinical features.Lancet. 1976; 2: 266
- Inheritance and bleeding in factor XI deficiency.Br J Haematol. 1988; 69: 521
- Pure fetal blood samples obtained by cordocentesis: Technical aspects of 322 cases.Prenat Diagn. 1990; 10: 93
- Prenatal diagnosis of thrombocytopenia— absent radius syndrome.Fetal Diagn Ther. 1996; 11: 224
- Limb anomalies associated with chorionic villus sampling.Obstet Gynecol. 1992; 79: 726
- Mutations revealed by sequencing the 5’ half of the gene for ataxia-telangiectasia.Hum Mol Genet. 1996; 5: 145
- Hereditary coagulopathies in pregnancy.Clin Obstet Gynecol. 1985; 28: 53
- Prenatal diagnosis of fetal hemoglobin Lepore-Boston disease on maternal peripheral.Blood. 1990; 75: 2102
- Rapid diagnosis of ß-thalassemia by mutagenically separated polymerase chain reaction (MS-PCR) and its application to prenatal diagnosis.Br J Haem. 1995; 91: 602
- Preimplantation diagnosis of alpha-thalassemia by blastomere aspiration and polymerase chain reaction: Preliminary experience.J Formos Med Assoc. 1996; 95: 203
- Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood.Nat Genet. 1996; 14: 264
- A new procedure for fetal blood sampling in utero: preliminary results of 53 cases.Am J Obstet Gynecol. 1983; 146: 985
- Fetal blood sampling during pregnancy with use of a needle guided by ultrasound. A study of 606 consecutive cases.Am J Obstet Gynecol. 1985; 153: 655
- Prenatal management of 746 pregnancies at risk for congenital toxoplasmosis.N Engl J Med. 1988; 318: 271
- Prenatal diagnosis and management of bleeding disorders with fetal blood sampling.Am J Obstet Gynecol. 1988; 158: 939
- First trimester biochemical and molecular diagnosis using chorionic villi: High accuracy in the US collaborative study.Prenat Diagn. 1992; 12: 357
- Brief report: Prenatal diagnosis of X-linked hyper-IgM syndrome.N Engl J Med. 1994; 330: 969
- In utero stem cell therapy.J Reprod Med. 1992; 37: 515
- Documentation of the plasma factor XIII deficiency in man.Ann N Y Acad Sei. 1972; 202: 190
- Chorionic villus sampling.J Reprod Med. 1992; 37: 389
- Carrier detection of the Wiskott-Aldrich syndrome.Blood. 1988; 72: 1735
- Prenatal diagnosis of hemophilia by fetal blood sampling under ultrasound guidance.Haemostasis. 1986; 16: 346
- Genetic markers on chromosome 19p and prenatal diagnosis of HLA Class II - deficient combined immunodeficiency.Pediatr Res. 1995; 38: 812
- Antenatal sex determination.Nature. 1956; 177: 330
- The therapeutic potential of fetal and neonatal hematopoietic stem cells.N Engl J Med. 1996; 335: 1839
- Dual fluorescent in situ hybridization for simultaneous detection of X and Y chromosome—specific probes for the sexing of human preimplantation embryonic nuclei.Hum Genet. 1992; 89: 18
- Detection of fetal DNA in trans-cervical swabs from first trimester pregnancies by gene amplification: A new route to prenatal diagnosis.Br J Obstet Gynaecol. 1992; 99: 508
- First babies born in the USA after preimplantation genetic diagnosis of sex-linked diseases.Am J Hum Genet. 1993; 53: A7
- Prenatal diagnosis of fetal infection: Advances from amniocentesis to cordocentesis - congenital toxoplasmosis, rubella, cytomegalovirus, varicella virus, parvovirus and human immunodeficiency virus.Pediatr Infect Dis J. 1989; 8: 459
- Determination of the platelet antigens and glycoproteins in the human fetus.Blood. 1986; 68: 488
- Congenitally abnormal prothrombin and thrombin.Ann N Y Acad Sei. 1986; 485: 56
- Detection of paternally inherited mutations for ß-thalassemia in trophoblast isolation from peripheral maternal blood.Ann N Y Acad Sei. 1994; 731: 181
- Percutaneous umbilical blood sampling: Results from a multicenter collaborative registry.Am J Obstet Gynecol. 1992; 166: 1614
- Prenatal diagnosis and treatment of genetic disorders.in: Merkatz I.R. Thompson J.E. New Perspectives on Prenatal Care. Celse vier Science Publishing Co Inc, 1990: 138
- Fetal therapy.Curr Opin Obstet Gynecol. 1992; 4: 4
- Prenatal diagnosis of compound heterozygous deficiency of protein C by direct detection of the mutation sites.Thromb Haemost. 1996; 76: 277
- Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia.Am J Med Genet. 1992; 43: 885
- Antenatal PLA1 typing and detection of GP IIB - IIIa complex.Br J Haematol. 1985; 60: 586
- Molecular basis and prenatal diagnosis of ß-thalassemia.Blood. 1988; 72: 1107
- Characterization of the p67phox gene: genomic organization and restriction fragment length polymorphism analysis for prenatal diagnosis in chronic granulomatous disease.Blood. 1993; 82: 3739
- Heterogeneous mutations in the ß-subunit common to the LFA-1, Mac-1 and p150, 95 glycoproteins cause leukocyte adhesion deficiency.Cell. 1987; 50: 193
- PCR-based determination of Rhc and RhE status of fetuses at risk of Rhc and RhE haemolytic disease.Br J Haematol. 1994; 88: 193
- Prenatal diagnosis of Kell blood group genotypes: KEL 1 and KEL 2.Am J Obstet Gynecol. 1996; 175: 455
- Red cell glycolytic intermediates in normal, anaemic and transfused human fetuses.Br J Haematol. 1989; 73: 387
- The rise and fall of chorionic villus sampling.BMJ. 1991; 303: 936
- Prenatal diagnosis of haemophilia.Baillieres Clin Haematol. 1996; 9: 243
- Prenatal determination of fetal RhD status by analysis of peripheral blood of Rhesus negative mothers.Lancet. 1993; 341: 1147
- Testing for in utero human immunodeficiency virus infection with fetal blood sampling.Am J Obstet Gynecol. 1996; 175: 489
- Enhancement of amniotic fluid cell growth for genetic amniocentesis.Clin Genet. 1991; 40: 190
- Amniography: A preliminary report.Am J Roentgen. 1930; 24: 363
- Fetal haemophilia and allied bleeding disorders.Br Med Bull. 1983; 39: 392
- Approaches to genetic diseases.in: Hoekelman R.A. Primary Pediatric Care. ed. 3. Missouri, Mosby-Year Book Co., St Louis1997
- The effects of midtrimester amniocentesis on lung function in the neonatal period.Eur J Pediatr. 1992; 151: 458
- Prevention of the haemoglobinopathies.Br Med Bull. 1983; 39: 386
- Foetal genetic diagnosis: Development of techniques for early sampling of foetal cells.Acta Pathol Microbiol Scand. 1968; 73: 73
- Human immunodeficiency virus isolated from amniotic fluid.Lancet. 1987; 2: 459
- Role of amniocentesis in the intrauterine detection of genetic disorders.N Engl J Med. 1970; 282: 596
- Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.Nat Genet. 1996; 14: 307
- von Willebrand disease.Medicine. 1997; 76: 1
- Consequences of feto-maternal haemorrhage after intrauterine transfusion.BMJ. 1988; 297: 1379
- A study of coagulation factor levels in women during labour and in their newborn infants.Thromb Diath Haemorrhagica. 1966; 16: 185
- Family studies and prenatal diagnosis in severe von Willebrand disease by PCR amplification of a variable number tandem repeat region of the von Willebrand Factor gene.Blood. 1990; 76: 555
- Cordocentesis for the diagnosis and treatment of human fetal parvovirus infection.Obstet Gynecol. 1990; 75: 501
- A rapid genotype assay for Pla haplotypes.Thromb Res. 1996; 81: 353
- Protein C level at birth.Thromb Haemost. 1984; 52: 188
- A familial hemorrhagic trait associated with a deficiency of a clot-promoting fraction of plasma.J Clin Invest. 1955; 34: 602
- In utero transplantation of stem cells in humans: Technical aspects and clinical experience during pregnancy.Bone Marrow Transplant. 1992; 9: 98
- Evolution of blood coagulation activators and inhibitors in the healthy human fetus.Blood. 1996; 88: 900
- Other clotting factor deficiencies.in: Hoffman R. Benz E.J. Shattil S.J. Hematology: Basic Principles and Practice. Churchill Livingstone, Inc, New York, NY1991: 1340
- Studies in porphyria. IV. Expression of the gene defect of acute intermittent porphyria in cultured human skin fibroblasts and amniotic cells: Prenatal diagnosis of the porphyric trait.J Exp Med. 1975; 142: 722
- Prenatal diagnosis of X-linked lymphoprolifer-ative disease using multiplex polymerase chain reaction.J Med Genet. 1995; 32: 756
- Prenatal diagnosis of Duchenne muscular dystrophy using a single fetal nucleated erythrocyte in maternal blood.Neurology. 1996; 46: 1350
- Fetomaternal transfusion depends on amount of chorionic villi aspirated but not on method of chorionic villus sampling.Am J Obstet Gynecol. 1990; 162: 1185
- Comparison of transabdominal and transcervical CVS and amniocentesis: Sampling success and risk.Prenat Diagn. 1991; 11: 529
- Reproductive pasts, reproductive futures: Genetic counseling and its effectiveness.Birth Defects. 1981; 17: 1
- Vertical transmission of HIV in a 15-week fetus.Lancet. 1986; 2: 288
- Chromosome analysis of human amniotic-fluid cells.Lancet. 1966; 1: 383
- Chorionic villus sampling and amniocentesis for prenatal diagnosis.Lancet. 1997; 349: 711
- How do carriers of hemophilia experience prenatal diagnosis?.Acta Paediatr Scand. 1989; 78: 692
- Amniocentesis vs. choriocentesis (chorionic villus sampling) and cordocentesis (fetal blood sampling).Rev Fr Gynecol Obstet. 1990; 85: 101
- Prenatal diagnosis of haemoglobin disorders by cordocentesis at 12 weeks gestation.Prenat Diagn. 1991; 11: 899
- Early diagnosis and immunologic changes in HIV-1 infected pregnant women and their children.Isr J Med Sei. 1994; 30: 421
- Antenatal detection of hemoglobinopathies: A preliminary report.Am J Obstet Gynecol. 1973; 115: 851
- Prenatal diagnosis of Down’s Syndrome.Lancet. 1968; 2: 220
- Single-cell analysis of the RhD blood type for use in preimplantation diagnosis in the prevention of severe hemolytic disease of the newborn.Am J Obstet Gynecol. 1995; 172: 533
- Chorionic villus sampling.Clin Obstet Gynecol. 1988; 31: 328
- Molecular defect (Gla + 14 — Lys) and its functional consequences in a hereditary factor X deficiency (Factor X “Vorarlberg”).J Biol Chem. 1990; 265: 11982
- In utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI).Lancet. 1996; 348: 1484
- Inherited blood clotting disorders.WHO Tech Rep Ser. 1972; 504: 1-48
- Genotype establishments for protein C deficiency by use of a DNA polymorphism in the gene.Blood. 1991; 77: 2633
Article info
Identification
Copyright
© 1999 Elsevier Inc. Published by Elsevier Inc. All rights reserved.