Prenatal diagnosis - Principles of diagnostic procedures and genetic counseling

Department of Genetics, Wroclaw Medical University, Poland.
Folia Histochemica et Cytobiologica (Impact Factor: 1.36). 02/2007; 45 Suppl 1(Suppl 1):S11-6.
Source: PubMed


The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous abortion. Prenatal diagnosis allowed identification of malformations and/or some genetic syndromes in fetuses during the first trimester of pregnancy. Thereafter, taking into account the severity of the disorders the decision should be taken in regard of subsequent course of the pregnancy taking into account a possibilities of treatment, parent's acceptation of a handicapped child but also, in some cases the possibility of termination of the pregnancy. In prenatal testing, both screening and diagnostic procedures are included. Screening procedures such as first and second trimester biochemical and/or ultrasound screening, first trimester combined ultrasound/biochemical screening and integrated screening should be widely offered to pregnant women. However, interpretation of screening results requires awareness of both sensitivity and predictive value of these procedures. In prenatal diagnosis ultrasound/MRI searching as well as genetic procedures are offered to pregnant women. A variety of approaches for genetic prenatal analyses are now available, including preimplantation diagnosis, chorion villi sampling, amniocentesis, fetal blood sampling as well as promising experimental procedures (e.g. fetal cell and DNA isolation from maternal blood). An incredible progress in genetic methods opened new possibilities for valuable genetic diagnosis. Although karyotyping is widely accepted as golden standard, the discussion is ongoing throughout Europe concerning shifting to new genetic techniques which allow obtaining rapid results in prenatal diagnosis of aneuploidy (e.g. RAPID-FISH, MLPA, quantitative PCR).

Download full-text


Available from: Ryszard Slezak
  • Source
    • "However, it can now be provided effectively by a combination of the ultrasonography measurement of fetal NT thickness, absence/presence of nasal bone (NB) in conjunction with biochemical testing for PAPP-A and hCG at 11 weeks to 13 weeks and six days (13 + 6 weeks) of gestation. The detection rate of these combined methods is about 85-90% in regard to trisomy 21 and 18, for a false positive rate of 5% (Agnieszka et al. 2007). "
    Dataset: RAS

    Full-text · Dataset · Oct 2013
  • Source
    • "The majority of abnormalities identified in prenatal samples are trisomy for chromosomes 13, 18, 21 and sex chromosome aneuploidies. In some countries, especially in Europe, the recommended diagnostic techniques include rapid FISH, MLPA (multiple ligation PCR amplification) and QF-PCR [4]. These methods have some advantages. "
    [Show abstract] [Hide abstract]
    ABSTRACT: Genetic testing usually helps physicians to determine possible genetic diseases in unborn babies, genetic disorders of patients and the carriers who might pass the mutant gene on to their children. They are performed on blood, tissues or other body fluids. In recent years, the screening tests and diagnostic tests have improved quickly and, as a result, the risks of pregnancy can be determined more commonly and physicians can diagnose several genetic disorders in the prenatal period. Detecting the abnormalities in utero enables correct management of the pregnancy, prenatal and postnatal medical care, and it is also important for making well informed decisions about continuing or terminating a pregnancy. Besides the improvements of conventional invasive diagnostic tests, the discovery of circulating cell-free foetal nucleic acids in maternal plasma has developed a new point of view for non-invasive prenatal diagnosis recently.
    Full-text · Article · Jun 2011 · EPMA Journal, The
  • Source
    • "A prenatal genetic counseling session is an important interaction on which life-ordeath decisions may be based. Generally, parents are presented with three options after the diagnosis of a fetal anomaly: terminate the pregnancy, continue the pregnancy while monitoring the fetus, or actively intervene with the pregnancy to treat the fetus (Agnieszka, 2007). If the parents choose to continue the pregnancy, they can choose "
    [Show abstract] [Hide abstract]
    ABSTRACT: The option of surgical fetal intervention (SFI) for the treatment of fetal anomalies is relatively new. It is generally recommended for anatomic problems that cause ongoing damage to either the developing fetus or the mother. It is important that parents considering SFI receive counseling from a medical professional before making a decision; prenatal genetic counselors are in an ideal position to do this. This study was designed to assess prenatal genetic counselors’ current knowledge, experience, and comfort level with SFI, and to compare two groups of counselors: those who work in a fetal intervention setting and those who do not. We recruited prenatal genetic counselors through the National Society of Genetic Counselors (NSGC) Listserv who had a minimum of one year of clinical experience and saw patients at least eight hours per week to take a quantitative survey. The survey consisted of multiple choice, Likert scale, and open-ended questions. We collected the survey data in SPSS and completed ANOVA and correlation analysis. We received 82 completed surveys: 28 from fetal intervention counselors and 54 from general prenatal counselors. All respondents were aware of SFI and 84% reported experience counseling for SFI. However, we found a wide range of knowledge levels from questions on details about the surgeries and the use of SFI for specific fetal anomalies. Those counselors who worked in a fetal intervention setting had significantly higher overall knowledge and comfort scores, but not experience scores. We found that 61.3% of respondents first learned about SFI in their genetic counseling training, but 41.5% felt their program did not prepare them well to counsel for it. Our findings indicate that there is a need for genetic counseling programs to increase the amount of time they spend teaching about SFI. It also indicates a need for educational materials and learning opportunities for practicing genetic counselors. Brandeis University, Graduate School of Arts and Sciences
    Preview · Article ·
Show more