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Updated: Jun 22, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Insights
Maternal age alone is an outdated method for screening chromosomal abnormalities. New guidelines recommend ultrasound and biochemical screening for improved detection rates and reduced pregnancy loss.
Area of Science:
- Obstetrics and Gynecology
- Medical Genetics
- Prenatal Diagnostics
Context:
- Prenatal diagnosis is a complex field involving multiple medical specialties.
- Existing guidelines for antenatal care and fetal medicine require updates.
- Current screening methods for chromosomal defects need re-evaluation.
Purpose:
- To provide updated, evidence-based information on prenatal diagnosis techniques and clinical governance.
- To establish optimal timing, training, and competence standards for prenatal screening.
- To recommend improved screening strategies for chromosomal abnormalities.
Summary:
- Maternal age alone is insufficient for screening chromosomal abnormalities due to low detection and high false positive rates.
- Recommended screening involves ultrasound examination between 11-13 weeks gestation and maternal serum biochemistry.
- The goal is to achieve a high detection rate (≥75%) with an acceptable false positive rate (≤5%) for trisomy 21.
Impact:
- Abandoning maternal age alone will reduce unnecessary invasive procedures and pregnancy loss.
- Implementation of recommended screening methods will enhance the accuracy of prenatal diagnosis.
- Improved prenatal screening contributes to better management of pregnancies with chromosomal defects.
Abstract:
Prenatal diagnosis is a multidisciplinary issue where obstetricians, geneticists, neonatologists and doctors representing other specialities are involved. The guideline will provide up-to-date information, based on clinical evidence optimal techniques and timing, training and competence and clinical governance issues. Prenatal screening for chromosomal defects should be performed in concordance with Polish Gynaecological Society guidelines and recommendations on antenatal care, ultrasound in pregnancy and fetal therapy, and Fetal Medicine Foundation (London, UK) rules. There is no doubt that maternal age alone as a method of screening for chromosomal abnormalities should be abandoned as it has low Detection Rate with high False Positive Rate hence high Invasive Procedure Rate and unnecessary high pregnancy loss rate. The Working Party recommends that screening methods based on ultrasound examination at 11(+0)-13(+6) wks and maternal serum biochemistry should be implemented. Special attention must be paid to ensure that sufficiently high Detection Rate is achieved (at least 75% for 5% False Positive Rate) in screening for trisomy 21.
