Prenatal diagnostic

Prenatal diagnosis involves the assessment of the structure and functionality of the developing fetus’s organs within the mother’s womb. The aim is to facilitate appropriate treatment, monitoring, and planning for a birth that can help mitigate the impact of any identified abnormalities. This diagnostic approach is considered the standard method for identifying genetic anomalies, particularly when results from previous screening methods such as NIPT or serum markers indicate a high risk of genetic disorders.

Genetic testing methods used for diagnosis encompass cytogenetic analysis.
1. karyotyping (classical cytogenetics/chromosome banding technique)
2. quantitative fluorescence polymerase chain reaction (QF-PCR)
3. chromosomal microarray testing (CMA). Whole genome sequencing and whole exome sequencing.
Are available for selected cases but are not recommended as routine tests.
4. Whole genome sequencing or whole exome sequencing is selected only in specific cases and is not recommended for routine testing.

Who should get tested?

Expectant mothers who have received genetic disease screening results indicating a “high risk” status.

จุดเด่นของการตรวจ Prenatal diagnostic

Conditions Screened For

Karyotype testing
Identify variations in chromosome size, shape, and count, examining all body chromosome pairs and the complete set of all 23 pairs of chromosomes, both body and sex chromosomes, with the exception of cases involving microdeletion syndromes.

QF-PCR
Limited to detecting anomalies in the number of five critical chromosome pairs: 21, 18, 13, X, and Y

Chromosomal Microarray Analysis (CMA)
Capability to discern irregularities in chromosome structure (except for Balanced translocations and Inversions) and chromosome count for all body chromosome pairs and the full complement of 23 sex chromosome pairs
Identify conditions in symptom groups such as Microdeletion and triploidy

Contact Us

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BCC GROUP THAILAND
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