Chromosomal Array CNV+SNP, POC

This test measures the presence of chromosomal copy number variations (CNVs) and single nucleotide polymorphisms (SNPs). These abnormalities in the genetic material can indicate genetic disorders, structural birth defects, and potential risks for developmental delays or intellectual disabilities.

• To detect chromosomal abnormalities and genetic disorders in the feotus
• To assess the risk of miscarriage or stillbirth
• To provide valuable information for prenatal counselling and decision-making
• To aid in the diagnosis and management of certain birth defects or developmental delays

This test may be recommended in the following situations:

• A history of previous miscarriages or stillbirths
• Suspicion of genetic disorders based on ultrasound findings
• Advanced maternal age (35 years or older) or known parental carrier of genetic disorders
• Family history of chromosomal abnormalities or genetic conditions

If the results of the test are abnormal, it could indicate the presence of genetic disorders, chromosomal abnormalities, or an increased risk of developmental delays. Further evaluation and consultation with a genetic counsellor or specialist are required for accurate diagnosis and appropriate management.

During the test:

• Placental tissue or foetal samples are collected by your obstetrician/gynaecologist
• The samples are then sent to the laboratory for analysis
• The test requires about 15 days for results to be reported

Before undergoing the test:

• Provide details of any previous abortions and relevant ultrasound scan reports
• Follow your healthcare provider's instructions regarding the collection and transportation of the samples

• Karyotyping: This test analyses chromosomes to detect large-scale chromosomal abnormalities
• FISH (Fluorescent In Situ Hybridisation): It is used to identify specific genetic abnormalities or rearrangements in chromosomes
• Genetic counselling: A consultation with a genetic counsellor who interprets the results and provides guidance based on the findings

Chromosomal Microarray Analysis or Chromosomal Microarray Testing

Bad obstetric history (BOH) and recurrent pregnancy loss (RPL) are terms used to describe complications in a woman's pregnancy journey. BOH refers to a history of two or more adverse outcomes like miscarriages, stillbirths, or preterm deliveries. RPL specifically focuses on repeated miscarriages, typically defined as three or more in a row. BOH/RPL can occur due to genetic factors, anatomical issues, infections, or underlying medical conditions.