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Updated: Jun 27, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
12:47

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on: February 3, 2012

Down syndrome serum screening also identifies an increased risk for multicystic dysplastic kidney, two-vessel cord,

Jodi D Hoffman1, Diana W Bianchi, Lisa M Sullivan

  • 1Tufts Medical Center, Boston, MA 02111, USA.

Prenatal Diagnosis
|November 27, 2008
PubMed

Insights

Maternal serum markers, used for aneuploidy screening, show significant associations with congenital anomalies like multicystic dysplastic kidney and hydrocele. This finding suggests enhanced benefits for prenatal screening programs.

Area of Science:

  • Perinatal medicine
  • Maternal-fetal medicine
  • Biochemistry

Background:

  • Prenatal screening for aneuploidy commonly utilizes maternal serum markers.
  • The FASTER trial investigated first and second-trimester screening methods.
  • Congenital anomalies represent a significant concern in pediatric outcomes.

Purpose of the Study:

  • To examine the relationship between specific maternal serum markers and common congenital anomalies.
  • To analyze pediatric outcome data from a large prospective trial.

Main Methods:

  • Nested case-control studies were employed.
  • Cases were defined by the most frequent congenital anomalies.
  • Serum markers were dichotomized as multiples of the median (MoM) and odds ratios (ORs) were calculated.

Main Results:

  • Inhibin A > or = 2 MoM associated with multicystic dysplastic kidney (MCDK) and two-vessel cord.
  • hCG > or = 2 MoM linked to MCDK and hydrocele.
  • PAPP-A > or = 2.0 MoM showed an association with hydrocele.

Conclusions:

  • Significant associations exist between maternal serum markers and congenital anomalies.
  • These findings suggest potential added value for aneuploidy screening programs.
  • Further research can refine screening protocols for congenital anomalies.
Abstract

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