First Trimester Prenatal Diagnosis of Metabolic Diseases: A survey in countries from the European Community

  title={First Trimester Prenatal Diagnosis of Metabolic Diseases: A survey in countries from the European Community},
  author={Livia Poenaru},
  journal={Prenatal Diagnosis},
  • L. Poenaru
  • Published 1 June 1987
  • Medicine
  • Prenatal Diagnosis
This paper presents the collected data concerning First Trimester Prenatal Diagnosis of Metabolic Diseases performed in different countries of the European Community by enzymatic methods using chorionic villi. 

First trimester diagnosis of Inherited Metabolic Disease: Experience in the UK

Data are collected from four major centres in the UK which provide a prenatal diagnosis service based on specific enzyme or gene product assay, and it is important that these results are reported and similarly that any problems which arise are fully documented.

Prenatal Diagnosis of Inherited Metabolic Disease by Chorionic Villus Analysis: The Edinburgh Experience

Tests may now be carried out directly on chorionic villus samples (CVS) with results available in a matter of days with advantages to those at risk and like many new techniques specific problems may arise.

First‐trimester biochemical and molecular diagnoses using chorionic villi: High accuracy in the U.S. collaborative study

The accuracy of biochemical and molecular prenatal diagnoses using chorionic villi as the fetal source was assessed by seven centres participating in the NICHD collaborative study on the safety and

Prenatal diagnosis of single gene disorders in northern Finland.

Out of 3100 pregnancies of northern Finnish women studied for early detection of congenital defects or genetic disease, 110 were at risk for and 15 were unexpectedly found to carry a fetus with a single gene disorder.

β‐glucuronidase deficiency: Identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluid

It is confirmed that chorionic villus samples provide useful information for diagnosis of mucopolysaccharidosis VII, and one fetus showed reduced β‐glucuronidase activity following simultaneous sampling of chorionics villus and amniotic fluid at 17 weeks of gestation.

Invasive prenatal diagnostic techniques.

  • R. Wapner
  • Medicine
    Seminars in perinatology
  • 2005
Chorionic villus sampling has emerged as the only safe invasive prenatal diagnostic procedure prior to the 14(th) week of gestation and with equally experienced operators, CVS and second trimester amniocentesis have similar procedure induced miscarriage rates.

Prenatal diagnosis of purine nucleoside phosphorylase deficiency in the first and second trimesters of pregnancy

The complete deficiency of PNP activity in placental villi confirms that the prenatal diagnosis of this disorder is possible by the direct investigation of chorionic villi.

First‐trimester prenatal diagnosis of aspartylglucosaminuria

Low enzyme activity in an uncultured biopsy specimen and in cultured amniotic fluid cells in one case demonstrated that the fetus was affected and the pregnancy was terminated and the prenatal diagnosis was confirmed by showing reduced AGA activity in cultured fibroblasts of the fetus.

Prenatal diagnosis of enzyme defects.

The range of enzymic defects that can be detected prenatally are reviewed and how the method of detection depends upon the molecular basis of the defect, the tissue and subcellular site of action of the enzyme, and the nature of the fetal biopsy available is discussed.

Amniotic fluid 17-hydroxyprogesterone in early pregnancy



Evaluation of Possible First Trimester Prenatal Diagnosis in Lysosomal Diseases by Trophoblast Biopsy

It is concluded that early diagnosis of lysosomal disorders would be possible using trophoblast tissue samples from normal fetuses before voluntary abortion and from placenta after therapeutic abortions of fetuses affected by several lysOSomal diseases.

Biochemical Analysis of Chorionic Villi: A Worldwide Survey of First Trimester Fetal Diagnosis of Inborn Errors of Metabolism

The possibility of demonstrating the gene defect either directly by recombinant DNA technology or indirectly via an abnormal structure or protein function offers new perspectives for couples at risk of producing affected offspring.

Prenatal diagnosis of atypical tay‐sachs disease by chorionic villi sampling

A family at risk for atypical TSD in which the index case showed, clinically, a late onset and a gradual psychomotor deterioration and biochemically, a residual hex in leucocytes is studied.

First-trimester prenatal diagnosis of mucolipidosis II (I-cell disease) by chorionic biopsy.

We investigated the possibility of mucolipidosis type II (ML II) prenatal diagnosis by lysosomal enzyme determination on trophoblast biopsy obtained at 10 weeks of gestation in two pregnancies at

Niemann‐Pick disease type B: first‐trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development

Cultured chorionic cells were normally found to exhibit sphingomyelinase activities 3 times higher than seen in the solid biopsy, and showed a lower residual activity in the affected foetus, which may prove helpful in dubious cases.


Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy

Three prenatal diagnoses based on chorionic villi biopsy in three families at risk for Pompe's disease juvenile form are presented: a normal fetus that was diagnosed and confirmed by enzymatic assay on amniotic cells; two affected fetuses that were diagnosed and confirm on post‐abortion fetal tissues.

Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases

The data suggest the applicability of this source of fetal cells for prenatal diagnosis of fifteen respective genetically determined enzyme deficiencies with the probable exception of α‐L‐iduronidase deficiency.

First-trimester prenatal diagnosis of Tay-Sachs disease.

It was noted that a small amount of decidua or maternal blood could lead to misdiagnosis and extreme care must be taken in the preparation of chorionic villi for Tay-Sachs as well as other prenatal metabolic diagnoses.