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Prenatal diagnosis by transabdominal chorionic villus sampling in the second and third trimesters

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Abstract

From October 1989 through December 1993, 124 pregnant women (114 in the second trimester and 10 in the third trimester) underwent transabdominal chorionic villus sampling (CVS) for prenatal molecular or cytogenetic diagnosis. The mean gestational age was 18.2 weeks. Indications for CVS comprised single gene disease (72%), fetal anomalies detected by ultrasound (17%), advanced maternal age (6%), and previous siblings with chromosomal aberration (5%). Among the 89 fetuses at risk for single gene disease, 20 were diagnosed as affected by DNA analysis. Among the 35 fetuses at risk for chromosomal anomaly, 4 had trisomy, 3 had a 45, XO karyotype and 2 had a structural chromosomal abnormality. The miscarriage rate was 1.8% (2/114) and the spontaneous preterm birth rate was 2.4% (3/124). No maternal or other fetal complications occurred. This study suggested that second- and third trimester CVS is a safe and useful method for prenatal diagnosis.

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References

  • Beggs AH, Koenig M, Boyce FM, Kunkel LM (1990) Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 86:45–48

    Google Scholar 

  • Brambati B, Oldrini A, Lanzani A (1987a) Transabdominal chorionic villus sampling: a freehand ultrasound-guided technique. Am J Obstet Gynecol 157:134–137

    Google Scholar 

  • Brambati B, Matarrelli M, Varotto F (1987b) Septic complications after chorionic villus sampling. Lancet 1:1212

    Google Scholar 

  • Breuning MH, Reeders ST, Brunner H, Ijdo JW, Saris JJ, Verwest A, van Ommen GJB, Pearson PL (1987) Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers. Lancet 2:1359–1361

    Google Scholar 

  • Burton BK, Schulz CJ, Burd LI (1992) Limb anomalies associated with chorionic villus sampling. Obstet Gynecol 79:726–730

    Google Scholar 

  • Hogdall CK, Doran TA, Shime J, Wilson S, Teshima I (1988) Transabdominal chorionic villus sampling in the second trimester. Am J Obstet Gynecol 158:345–349

    Google Scholar 

  • Holzgreve W, Miny P, Gerlach B, Westendorp A, Ahlert D, Horst J (1990) Benefits of placental biopsies for rapid karyotyping in the second and third trimesters (late chorionic villus sampling) in high-risk pregnancies. Am J Obstet Gynecol 162:1188–1192

    Google Scholar 

  • Hsieh FJ, Chang FM, Ko TM, Chen HY (1987) Percutaneous ultrasound-guided fetal blood sampling in the management of nonimmune hydrops fetalis. Am J Obstet Gynecol 157:44–49

    Google Scholar 

  • Kalousek DK, Dill FJ, Pantzar T, McGillivray BC, Young SL, Wilson RD (1987) Confined chorionic mosaicism in prenatal diagnosis. Hum Genet 77:163–167

    Google Scholar 

  • Ko TM, Hsieh FJ, Hsu PM, Lee TY (1989) Prenatal diagnosis of Chinese homozygous α-thalassaemia 1 and haemoglobin H disease by analysis of α- and ωζ-globin genes in chorionic villi and amniocytes. Prenat Diagn 9:715–725

    Google Scholar 

  • Ko TM, Chen CF, Chiu HC, Hsieh FJ, Lee TY (1990a) Molecular analysis of 25 Chinese families with Duchenne/Becker muscular dystrophy. J Formosan Med Assoc 89:850–856

    Google Scholar 

  • Ko TM, Hsieh FJ, Lee TY (1990b) DNA polymorphism and globin chain analysis in the prenatal diagnosis or β-thalassaemia major in Taiwan. Prenat Diagn 10:237–244

    Google Scholar 

  • Ko TM, Shen MK, Hsieh FJ, Lee TY (1990c) Prenatal diagnosis of hemophilia A by analysis of chorionic villi. J Formosan Med Assoc 89:194–198

    Google Scholar 

  • Ko TM, Tseng LH, Hsieh FJ, Hsu PM, Lee TY (1992) Carrier detection and prenatal diagnosis of alpha-thalassemia of Southeast Asian deletion by polymerase chain reaction. Hum Genet 88:245–248

    Google Scholar 

  • Mornet E, Bone J, Raux-Demay M, Couillin P, Oury JF, Dumez Y, Dausset J, Cohen D, Boue A (1986) First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination. Hum Genet 73:358–364

    Google Scholar 

  • Saiki RK, Scharf S, Faloona F, Mullis KB, Horn GT, Erlich HA, Arnheim N (1985) Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 230:1350–1354

    Google Scholar 

  • Schloo R, Miny P, Holzgreve W, Horst J, Lenz W (1992) Distal limb deficiency following chorionic villus sampling? Am J Med Genet 42:404–413

    Google Scholar 

  • Smidt-Jensen S, Lundsteen C, Lind A-M, Dinesen K, Philip J (1993) Transabdominal chorionic villus sampling in the second and third trimesters of pregnancy: chromosome quality, reporting time, and feto-maternal bleeding. Prenat Diagn 13:957–969

    Google Scholar 

  • Southern EM (1975) Detection of specific segments among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517

    Google Scholar 

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Ko, T.M., Tseng, L.H., Hwa, H.L. et al. Prenatal diagnosis by transabdominal chorionic villus sampling in the second and third trimesters. Arch Gynecol Obstet 256, 193–197 (1995). https://doi.org/10.1007/BF00634491

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  • DOI: https://doi.org/10.1007/BF00634491

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