Clinical Diagnostics/ PRENITA Reproductive Health

Through PRENITA, Bioserve offers a range of prenatal and post-natal screening tests that provide accurate results with actionable insights, which help the clinician to analyze and provide the best outcome to the patients. PRENITA provides the most advanced Preimplantation Genetic Screening/Diagnosis (PGS/PGD), Non-Invasive Prenatal Screening Test (NIPT), Invasive Diagnostic testing and Carrier Screening. 

  • PRENITA Reproductive Health
  • Carrier Screening
  • Non-invasive Prenatal Testing
  • QFPCR
  • Recurrent Pregnancy Loss
  • Testing for Microdeletion and Duplication

Assurance on a safe future

Carrier screening is testing an asymptomatic individual for a Genetic Disorder to understand whether they are at risk of having an affected child. Carrier screening provides the prospective parents insight about the health of their child and helps them to plan accordingly. Based on individual case studies, PRENITA Carrier Screening helps parents to identify the Genetic Conditions by opting for the appropriate tests like Next Generation Sequencing, Multiplex Ligation Probe Amplification (MLPA) or Sanger Sequencing.

Who should be offered Carrier Screening? 

  • Couples who are expecting a child or are planning a pregnancy
  • Couples with a family history of a genetic disorder
  • One of the partners is affected by a genetic disorder
  • Consanguineous Couples 
  • Couples belong to a high-risk ethnic group for specific disorders
  • Couples with an affected child for a genetic disorder or with congenital anomalies

Few of the commonly tested Genetic Disorders in India

  • Beta Thalassemia
  • Sickle Cell Anaemia    
  • Cystic Fibrosis
  • Congenital Adrenal Hyperplasia
  • Spinal Muscular Atrophy
  • Duchenne Muscular Dystrophy
  • Haemophilia A/B
  • G6PD Deficiency
Non-invasive Prenatal Testing

Prenatal Testing and its importance: Chromosomal abnormalities in the foetus constitute one of the leading causes of stillbirth and birth of infants with malformations.

Prenatal testing is important as it 

  • Identifies chromosomal abnormalities at a very early stage,
  • Enables the expecting parents in better management of healthcare conditions.
  • Early intervention.

PRENITA NIPT is a Non-Invasive Prenatal Screening Test (NIPT) performed on cell free DNA extracted from maternal blood. During pregnancy, DNA fragments from the baby in the amniotic fluid crosses the placenta and enters the mother’s bloodstream. PRENITA NIPT is performed on this DNA to check for genetic conditions such as presence of extra or missing chromosomes and small microdeletions that could affect the baby’s health. 

PRENITA NIPT IS:

  • Simple – Only requires 8-10ml of maternal blood sample
  • Safe – Noninvasive and safe for both mother and fetus
  • Early – Can be performed as early as 10th week of gestational age
  • Reliable – Higher sensitivity and specificity
  • Accurate – Comprehensive information on all the 46 chromosomes
  • Fast – Results are provided within 6-8 working days

PRENITA NIPT is ideal for expectant mothers with

  • Advanced Maternal Age
  • Positive personal or family history
  • Abnormal ultrasound findings
  • Positive maternal serum screen

Conditions tested in PRENITA NIPT:

  • Chromosomal Aneuploidies Screened:
    • Trisomy 13: Patau Syndrome
    • Trisomy 18: Edward Syndrome
    • Trisomy 21: Down Syndrome
    • XXY: Klinefelter Syndrome
    • X0: Turner Syndrome
    • XYY: Jacob Syndrome
    • XXX Syndrome
  • Microdeletions Screened:
    • DiGeorge Syndrome
    • 1p36 Deletion Syndrome
    • Angelman/Praderwilli Syndrome
    • Cri-du-chat Syndrome
    • Wolf Hirschhorn Syndrome

How do I arrange this test?

  1. Discuss with your healthcare provider
  2. Fill in the Test Request Form
  3. Your blood is collected in appropriate container provided by us

Follow up services offered by BioServe’s PRENITA

  • Personalized genetic counselling
  • Confirmatory test for pregnancies at risk
QFPCR

In prenatal condition, QFPCR aids in rapid diagnosis of the common chromosomal aneuploidies like 13, 18, 21 and gonosomal aneuploidies. QFPCR enables to provide the results within 24 hours and can be performed with small amount of specimen unlike microarray and Karyotyping. Karyotyping is a gold standard in providing a comprehensive cytogenetic view of the fetus but is subjected to failures due to slow growth in the culture and contamination. 

QFPCR is performed on Chorionic Villus Sampling and on Cells obtained from Amniotic Fluid

When is QFPCR used?

QFPCR is used as confirmatory diagnostic test for NIPT and Maternal Serum Screening.

Need of Rapid Diagnosis

Complements the conventional karyotype

Recurrent Pregnancy Loss

Recurrent Pregnancy Loss is reported to be approximately 1-2% and of which 2-5% is contributed by Genetic defects. Genetic cause behind recurrent pregnancy loss can be identified by testing the Product of Conception using Chromosomal Microarray, QFPCR and Karyotyping and this in turn helps the physicians to develop a plan to support a future successful pregnancy.

QFPCR PLUS: Tests for chromosomal abnormalities in Chromosome 13,15, 16, 18,21,22 and Sex chromosomes and test for Triploidy.

Low Resolution Microarray: Test for chromosomal abnormalities in 23 pairs of chromosomes, detects smaller deletions and duplications, mosaicism, and Loss of Heterozygosity.

Karyotyping: Test for chromosomal abnormalities in 23 pairs of chromosomes and detects balanced structural changes in the chromosome like translocations and inversions.

In addition to the testing of POC the parental karyotyping is also done to check for balanced translocations in parents because around 5% of couples with RPL are known to be carriers of Robertsonian translocations and balanced reciprocal translocations. 

Multiple congenital anomalies and mental retardation comprise a large, heterogeneous group of diseases that affect approximately 3% of new-borns and microdeletion and microduplication syndromes constitute one of the major contributing factors to this. 

Microdeletion and microduplication syndromes are disorders caused by sub microscopic deletions or duplications of contiguous genes on parts of chromosomes. 20 common Microdeletion and duplication regions are testing using this panel by MLPA technology. Both prenatal and postnatal samples can be tested. 

Identifying the Microdeletion and duplication syndrome helps the:

  • Healthcare practitioner to plan the treatment accordingly
  • Better management plan
  • Early informed decisions can be taken by the parents in prenatal condition