[Prenatal screening for anueploidies in the first trimester: Audit to a Fetal Medicine Centre with specialized Laboratory in Mexico]

Ginecol Obstet Mex. 2015 May;83(5):259-76.
[Article in Spanish]

Abstract

Background: Screening for aneuploidies using ultrasound and biochemical first trimester markers has an expected performance if the qualification requirements are fulfilled.

Objective: To describe the first trimester markers in Mexico through the audit to a Fetal Medicine Centre and Laboratory.

Material and method: Descriptive study conducted with the audit method of ultrasound and biochemical markers in pregnancies that prenatal screening tests in the first quarter were made between 11 + 1 and 14 + 1 weeks pregnant patients who came to the Laboratorio del Centro Médico para Atención Fetal Especializada.

Results: In 17 months n=1020 pregnancies, 962 (94.3%) single, 55 (5.4%) doubles, and 3 (0.3%) triplets. Median maternal age of 33.8 years (16-52), 413 (40.5%) > or = 35 years. 1080 foetuses with 1009 valid measurements of nuchal translucency (29.8% at external cabinets), 54% >p50; 7.3% >p95, and 1.6% > p99. Out of 1555 sera processed at the Laboratory (f-beta-hCG and PAPP-A, Roche), 641 (41.2%) were interpreted at external centres. In 914 sera the f-beta-hCG MoM were p50 = 0.72, 3.2% >p95; for PAPP-A, p50 = 0.89, 9.0% < p5. There were 850 combined tests, and in 745 an additional marker was added; the IP ductus venosus median was 0.99 MoM. A risk > or =1 in 100 resulted in 50 foetuses (4.6%); 27 underwent invasive procedure at our Centre, 19 normal karyotypes, and 8 abnormal as: 3 trisomy 21 and 5 diverse aneuploidies.

Conclusions: The qualification requirements are fulfilled for nuchal translucency, ductus venosus, and the combined test; 1 out of 3 invasive procedures resulted an aneuploidy; the estimated false positive rate is 3.9%. The Laboratory will adjust the median values of the biochemical markers. A cohort study has begun.

Publication types

  • English Abstract

MeSH terms

  • Adolescent
  • Adult
  • Aneuploidy*
  • Biomarkers / analysis
  • Chorionic Gonadotropin, beta Subunit, Human / analysis
  • Down Syndrome / diagnosis*
  • Female
  • Humans
  • Mexico
  • Middle Aged
  • Nuchal Translucency Measurement / methods
  • Pregnancy
  • Pregnancy Trimester, First
  • Pregnancy-Associated Plasma Protein-A / analysis
  • Prenatal Diagnosis / methods*
  • Ultrasonography, Prenatal / methods*
  • Young Adult

Substances

  • Biomarkers
  • Chorionic Gonadotropin, beta Subunit, Human
  • Pregnancy-Associated Plasma Protein-A